Introduction: Arteriovenous malformation is a rare pathology, often discovered accidentally in children. Generally, it presents as an intra-parenchymal hematoma following rupture of the affected vessels. The risk of r...Introduction: Arteriovenous malformation is a rare pathology, often discovered accidentally in children. Generally, it presents as an intra-parenchymal hematoma following rupture of the affected vessels. The risk of rupture is linked to the volume of the malformation, its cortical location and venous drainage. In literature, few cases of rupture have been reported in cases of meningitis, but none are associated with a brain abscess. Objective: To report a case of an intraparenchymal hemorrhage due to rupture of an arteriovenous malformation with an associated brain abscess. Observation: The authors report the case of a 2-year-old child, admitted for impaired state of consciousness associated with a right hemiparesis and seizures in a febrile context. Clinical evaluation revealed a Blantyre score of 3, fever at 40˚C, divergent strabismus of the right eye, a right pyramidal syndrome and meningeal irritative syndrome. Cerebral CT scan revealed a left fronto-parietal intra-parenchymal hematoma and a right occipital ring-enhanced lesion, suggesting a brain abscess. An MRI suggested a probable rupture of an arteriovenous malformation resulting in the intra-parenchymal hematoma. Management consisted of craniotomy to evacuate the intra-parenchymal hematoma, antibiotic therapy with vancomycin and ceftriaxone at meningeal doses. Histopathological analysis of the intraoperative sample revealed an arteriovenous malformation. The postoperative course was marked by regression of hyperthermia, persistence of spasticity, irritability and clonic movement of the right lower limb. These were managed with baclofen, phenobarbital, and ergotherapy. We observed a regression of spasticity and improved motor skills in the right limbs. At 6 months follow-up, child could interact with his social environment despite aphasia, regression of spasticity and right hemiparesis. Conclusion: Rupture of arteriovenous malformations can be enhanced by neuro-meningeal infections and particularly brain abscesses. Cerebrovascular complications of these conditions mostly have unfavorable outcomes and neurological sequelae.展开更多
Cerebral cavernous malformations are a rare and congenital vascular malformation that can present as a challenge in neurosurgical management. The term “giant cerebral cavernous malformations” still does not have a c...Cerebral cavernous malformations are a rare and congenital vascular malformation that can present as a challenge in neurosurgical management. The term “giant cerebral cavernous malformations” still does not have a clear definition in the literature, with a wide variety of results. It is known, however, that there is an association between the size of the cavernoma and postoperative sequelae, especially in those with a size greater than 3 cm in its largest diameter. We present a case report of resection of a giant brain cavernoma measuring approximately 8 cm in its largest diameter, emphasizing on clinical presentation, diagnoses and postoperative evolution. Additionally, we performed a comprehensive review of the existing literature on the subject, addressing the epidemiology, pathophysiology, diagnostic methods, treatment options, and prognosis associated with this condition.展开更多
BACKGROUND Acute lower gastrointestinal bleeding(LGIB)is a common occurrence in clinical practice.However,appendiceal bleeding is an extremely rare condition that can easily be overlooked and misdiagnosed.The preopera...BACKGROUND Acute lower gastrointestinal bleeding(LGIB)is a common occurrence in clinical practice.However,appendiceal bleeding is an extremely rare condition that can easily be overlooked and misdiagnosed.The preoperative detection of appen-diceal bleeding often poses challenges due to the lack of related guidelines and consensus,resulting in controversial treatment approaches.CASE SUMMARY We presented a case of a 33-year-old female who complained of hematochezia that had lasted for 1 d.Colonoscopy revealed continuous bleeding in the appen-diceal orifice.A laparoscopic appendectomy was performed immediately,and a pulsating blood vessel was observed in the mesangium of the appendix,accor-dingly,active bleeding into the appendicular lumen was considered.Pathological examination revealed numerous hyperplastic vessels in the appendiceal mucosa and dilated capillary vessels.CONCLUSION The preoperative detection of appendiceal bleeding is often challenging,colo-noscopy is extremely important,bowel preparation is not routinely recommend-ed for patients with acute LGIB or only low-dose bowel preparation is recom-mended.Laparoscopic appendectomy is the most appropriate treatment for appendiceal bleeding.展开更多
BACKGROUND Vascular malformations(VMs)arise as a result of errors in the process of angiogenesis and are usually present at birth,but may not become apparent until after birth.However,giant VMs of the head and face ar...BACKGROUND Vascular malformations(VMs)arise as a result of errors in the process of angiogenesis and are usually present at birth,but may not become apparent until after birth.However,giant VMs of the head and face are uncommon,with few reported cases,and the prognosis for their surgical intervention is unclear.CASE SUMMARY A 12-year-old girl was admitted to the hospital with findings of an enlarged right temporal scalp.After admission,computed tomography(CT)angiography of cerebral ateries showed a right occlusal gap and a right temporal artery venous malformation.Furthermore,cerebral angiography showed a right temporal lobe VM with multiple vessels supplying blood.The patient underwent surgery to remove the malformed vessels and the eroded skull.Two hours after the surgery,the patient's right pupil was dilated,and an urgent CT scan of the skull showed a right subdural haematoma under the incision,which was urgently removed by a second operation.After surgery,we gave continuous antibiotic anti-infection treatment,and the patient recovered well and was discharged two weeks later.CONCLUSION Surgical removal of giant haemangiomas is risky and adequate preoperative(including interventional embolisation)and intraoperative preparations should be made.展开更多
BACKGROUND Digital subtraction angiography(DSA),the gold standard for the diagnosis of intracranial arteriovenous malformations(AVMs),can show clean nidus resection,leading to a perceived cure.Most cases of intracrani...BACKGROUND Digital subtraction angiography(DSA),the gold standard for the diagnosis of intracranial arteriovenous malformations(AVMs),can show clean nidus resection,leading to a perceived cure.Most cases of intracranial AVM recurrence have been reported in pediatric patients.The conventional understanding indicates that AVMs arise when abnormal blood vessels develop between the fourth and eighth weeks of embryonic development,which coincides with the typical period of blood vessel formation in the brain.As such,recurrent ectopic AVM are rare in adults.CASE SUMMARY Herein,we present the case of a 31-year-old adult with a history of an intracranial AVM originally diagnosed with a symptomatic de novo cerebellar AVM formation.Recurrence was observed five years following angiographically-confirmed excision of the initial AVM.DSA performed prior to initial AVM resection indicated no cerebellar abnormalities.Moreover,the recurrent arteries exhibited differences in arteries and draining veins.In addition to reporting this case,we analyzed six previously-reported adult patients with similar ectopic recurrent AVMs.These cases are summarized to review and explore the potential causes of ectopic AVM recurrence in adults,which increase the likelihood of acquired AVM.CONCLUSION The clinical course of the reported patients demonstrated the possibility of ectopic AVM recurrence in adults.The median time between the diagnosis of the initial AVM and the occurrence of ectopic recurrent AVM in adults was 11 years(range:5–20 years).Magnetic resonance imaging follow-up for more than 10 years may be required in adult AVM-treated patients.展开更多
BACKGROUND The rare co-occurrence of oligodendroglioma and arteriovenous malformation(AVM)in the same intracranial location.CASE SUMMARY In a 61-year-old man presenting with progressive headaches,is described in this ...BACKGROUND The rare co-occurrence of oligodendroglioma and arteriovenous malformation(AVM)in the same intracranial location.CASE SUMMARY In a 61-year-old man presenting with progressive headaches,is described in this case study.Preoperative multimodal imaging techniques(computed tomography,magnetic resonance imaging,magnetic resonance spectroscopy,digital subtraction angiography,and computed tomography angiography)were employed to detect hemorrhage,cystic and solid lesions,and arteriovenous shunting in the right temporal lobe.The patient underwent right temporal craniotomy for lesion removal,and postoperative pathological analysis confirmed the presence of oligodendroglioma(World Health Organization grade II,not otherwise specified)and AVM.CONCLUSION The preoperative utilization of multimodal imaging examination can help clinicians reduce the likelihood of misdiagnosis or oversight of these conditions,and provides important information for subsequent treatment.This case supports the feasibility of craniotomy for the removal of glioma with AVM.展开更多
In this study, we present a representative case of multiple glomuvenous malformation in a 12-year-old female patient. Approximately five years ago, the patient developed multiple blue-purple papules and plaques on her...In this study, we present a representative case of multiple glomuvenous malformation in a 12-year-old female patient. Approximately five years ago, the patient developed multiple blue-purple papules and plaques on her hypogastrium and right thigh, which progressively enlarged and presented tenderness. Histopathological examination confirmed the diagnosis of glomuvenous malformation. Following two injections of lauromacrogol, a significant improvement was observed in the lesions, including a resolution of tenderness. These findings suggest that sclerotherapy not only exhibits evident therapeutic efficacy but also effectively alleviates pain while addressing both aesthetic and therapeutic concerns.展开更多
Abnormal SEP reflects dysfunction of the medial lemniscus and posterior cervical cord. These structures are likely to be affected in Chiari malformation. Therefore, SEP abnormalities may provide valuable information i...Abnormal SEP reflects dysfunction of the medial lemniscus and posterior cervical cord. These structures are likely to be affected in Chiari malformation. Therefore, SEP abnormalities may provide valuable information in patients with CM. However, the consistency of SEP abnormality or normality with the damage is a matter of research. Knowing whether median nerve somatosensory evoked potential (SEP) is useful in revealing subclinical damage in patients with Chiari malformation is important in the treatment and follow-up plan of the disease. The aim of this study was to investigate the relationship between median nerve SEP values and the severity of cerebellar ectopia in patients with Chiari type 1 malformation. Median nerve SEP values were obtained from 30 healthy individuals and 146 individuals with Chiari malformation. The cerebellar ectopia degree and McRae line length were measured. SEP values were not significantly different between groups. The McRae line was found to be significantly shorter in the control group than in the Chiari malformation group (p = 0.031). There was no correlation between the degree of cerebellar ectopia and the length of the McRae line (r = 0.002, p = 0.979). Neither cerebellar ectopy degree nor McRae line length had a relationship with SEP values (r = -0.153, p = 0.066;r = -0.056, p = 0.500, respectively). There was no difference in cerebellar ectopy degree or SEP values between the groups with cerebellar ectopy with and without a syrinx (p = 0.899;p = 0.080, respectively). Likewise, McRae line length was not found to be related to the presence of a syrinx (p = 0.139). Median nerve SEP examination was not beneficial for diagnosing asymptomatic-oligosymptomatic Chiari malformation as a subclinical injury, whether accompanied by syringomyelia or not.展开更多
Introduction: Congenital hypothyroidism is the most common causes of preventable mental retardation. It is associated with other births defects like cardiac malformations. Descriptions in Sub Saharan Africa are rare, ...Introduction: Congenital hypothyroidism is the most common causes of preventable mental retardation. It is associated with other births defects like cardiac malformations. Descriptions in Sub Saharan Africa are rare, justifying the present report. Case Report: We reported the cases of 3 female patients, diagnosed with hypothyroidism, presenting in addition pulmonary stenosis. The diagnosis was late in all the patients and we noticed clinical improvement under levothyroxine. Conclusion: Association congenital hypothyroidism and cardiac defect is not rare. Our patients are female with no history of consanguinity, presenting congenital hypothyroidism with a gland in situ associated with pulmonary stenosis. Systematic screening of other births defects is thus recommended in affected patients.展开更多
Introduction: Lymphaticovenous malformations (LVM) are benign congenital anomalies of the venous and lymphatic systems, frequently presenting as complex masses in the head and neck region of children. While the clinic...Introduction: Lymphaticovenous malformations (LVM) are benign congenital anomalies of the venous and lymphatic systems, frequently presenting as complex masses in the head and neck region of children. While the clinical features of LVM are well-documented, there is a lack of comprehensive studies addressing their holistic impact on affected children and their families. Objectives: This qualitative study explores the physical, psychological, and social challenges faced by children with head and neck LVM and the emotional and financial burdens experienced by their parents. It also evaluates the effectiveness of a multidisciplinary approach in managing these challenges. Methods: Over seven months, data were collected through monthly multidisciplinary team (MDT) clinics, bi-monthly tele-clinics, and continuous email communication. The MDT included interventional radiologists, surgeons, psychologists, physiotherapists, nurse specialists, and administrative staff. Additional specialists were consulted as needed. The study focused on children’s physical symptoms (appearance concerns, pain, infections, bleeding, heaviness, tongue involvement), psychological and social issues (bullying, self-esteem, social isolation, school absenteeism), and parental concerns. Management strategies and their outcomes were also documented. Results: Children with LVM experienced significant distress due to visible deformities, chronic pain, and recurrent infections, leading to social isolation, bullying, and low self-esteem. Parents reported constant stress over their child’s well-being, concerns about social interactions, and financial strain from taking time off work for care and medical appointments. Interventions—including surgical procedures and interventional radiology treatments like sclerotherapy, counseling, laser treatments, and camouflage techniques—resulted in reported improvements across physical, psychological, and social domains. Conclusions: LVM significantly impacts the biopsychosocial well-being of both children and their parents. A multidisciplinary approach is essential for effective management, addressing not only the medical but also the psychological and social needs of affected families. Future studies with larger, multi-center cohorts are recommended to further validate these findings and explore new therapeutic strategies.展开更多
Objective:To investigate the computed tomography(CT)and magnetic resonance imaging(MRI)features of cavernous hemangioma malformation(CHM)to enhance diagnostic accuracy.Methods:The CT and MRI findings and clinical info...Objective:To investigate the computed tomography(CT)and magnetic resonance imaging(MRI)features of cavernous hemangioma malformation(CHM)to enhance diagnostic accuracy.Methods:The CT and MRI findings and clinical information of 23 patients with CHM were retrospectively analyzed.Results:CT examinations were conducted in 7 cases,while MRI was utilized in 23 cases.Additionally,SWI was employed in 5 cases and enhanced imaging techniques were applied in 14 cases.Among the observed lesions,20 cases presented with a singular lesion,whereas 3 cases exhibited multiple lesions.The lesions were located in 8 frontal lobes,6 cerebellums,2 brainstems,6 temporal lobes,1 basal ganglia,3 parieto-occipital lobes,and 2 thalamus regions.The nodules appeared as quasi-circular lesions with clear or well-defined boundaries.They presented as isodense lesions on CT scans,with one lesion showing peritumoral edema.On MRI,T1-weighted imaging(T1WI)demonstrated isointense signals,while T2-weighted imaging(T2WI)showed isointense and hyperintense signals.Additionally,10 lesions exhibited a low signal ring on T2WI.Diffusion-weighted imaging(DWI)revealed nodular or isointense low signals,while susceptibility-weighted imaging(SWI)displayed enlarged areas of low signal.Fourteen lesions underwent contrast-enhanced scanning,with 2 lesions showing no obvious enhancement,1 lesion demonstrating mild to moderate enhancement,and 11 lesions exhibiting significant enhancement.Notably,6 of these enhanced lesions were surrounded by small blood vessels.Conclusion:Cavernous hemangioma malformation is more commonly found in individual cases.CT alone lacks specificity,making it prone to misdiagnosis.A more comprehensive evaluation of cavernous hemangioma malformation can be achieved through a combination of MRI,DWI,SWI,and enhanced examination,providing valuable references for clinical assessment.展开更多
Cerebral cavemous malformation （CCM） is a frequently occurring disease in Latin American populations, but little is known about the prevalence in China. This study enrolled one Chinese family with CCM, comprising 16...Cerebral cavemous malformation （CCM） is a frequently occurring disease in Latin American populations, but little is known about the prevalence in China. This study enrolled one Chinese family with CCM, comprising 16 members; four were diagnosed with CCM which corresponded with autosomal incomplete dominance inheritance. The main clinical manifestations included headache, focal neural dysfunction, and cerebral hemorrhage. The lesions were a mixture of hyperintensity and hypointensity signals on TlWl and T2Wl, with a black hypointensity ring on T2Wl. CCM cranial magnetic resonance imaging T2Wl revealed an iron ring as a result of hemosiderin deposition. Pathological findings of CCM revealed tightly packed and variably thickened vascular channels lacking smooth muscle or elastic tissue. Intralesional hyalinosis, calcification, or bleeding of different phases and perilesional glial hyperplasia were observed, as well as hemosiderin deposition within or around the lesions. These features of this family were consistent with specific genetic, imaging and pathological features of familial CCM. Pathological characteristics reveal repeated hemorrhage, as well as intralesional and perilesional hemosiderin deposition.展开更多
BACKGROUND： A cerebral cavernous malformation-1 （CCM1） gene mutation might result in functional loss of KREV interaction trapped-1 （KRIT1）, which is related to onset of cavernous malformations （CM）. However, da...BACKGROUND： A cerebral cavernous malformation-1 （CCM1） gene mutation might result in functional loss of KREV interaction trapped-1 （KRIT1）, which is related to onset of cavernous malformations （CM）. However, data addressing sporadic CM in Chinese patients remains limited to date. OBJECTIVE： To analyze CCM1 mutation of Chinese patients with sporadic intracranial CM. DESIGN, TIME AND SETTING： Genetics experiment was performed in the Department of Neurosurgery, Huashan Hospital Affiliated to Hehai University between January 2004 and December 2005. PARTICIPANTS： Ninety patients with sporadic CM served as the CM group, and 30 healthy subjects were considered to be the control group. METHODS： Peripheral blood was collected from patients with CM and from control group subjects Genomic DNA was extracted, and exons 8, 9, 11, 12, 13, 15, 16, 17, and 18, as well as the related introns, were amplified using polymerase chain reaction. DNA sequences were compared with GeneBank. MAIN OUTCOME MEASURES： Abnormal mutable site of CCM1 gene in the two groups. RESULTS： Four exclusive mutations of CCM1 were detected in the CM group, with a sporadic CM mutational rate of 32% （6/19）. Of the four exclusive mutations, there was one missense mutation [exon 12, 1172C→T （S391 F）], one insertion mutation [exon 8, 704insT （K246stop）], one intervening sequence mutation （IVS12-4C→T）, and one synonymous mutation （exon 17, 1875C→T）. With the exception of 1875C→T, all mutations detected in the CM group led to functional changes of the KRIT1 protein, which was encoded by the CCM1 gene. Gene mutations were not detected in the control group. CONCLUSION： Four exclusive mutations of the CCM1 gene were determined in Chinese patients with sporadic CM, which led to functional changes or loss of the encoding KRIT1 protein. KRIT1 protein is considered to be the genetic basis of CM occurrence.展开更多
A 75-year-old man presented with knee pain due to medial osteoarthritis of the knee in the orthopedic outpatient clinic. Conservative treatment was started with steroid infiltration. Besides his knee complaint reporte...A 75-year-old man presented with knee pain due to medial osteoarthritis of the knee in the orthopedic outpatient clinic. Conservative treatment was started with steroid infiltration. Besides his knee complaint reported a bilateral painless swollen calf muscle without traumatic cause, and also without any pain at night, fever or medical illness. On physical examination the soleus muscle had a swollen aspect in both calfs. The skin appeared normal without deformities and the arterial pulsations were intact. An X-ray did not show abnormalities in the tibia. Magnetic resonance imaging of the legs revealed bilateral multiple saccular intramuscular venous malformations involving the soleus muscle. Intramuscular venous malformations in skeletal muscles are rare, especially when the occurrence is bilateral. Bilateral venous malformations have the potential to be missed because of the intramuscular localization. Symptoms of intramuscular venous malformation can be often mild and overlap with nonexercise related compartment syndrome, claudication, lymphedema and post thrombotic syndrome or muscle strains.展开更多
BACKGROUND Brain arteriovenous malformations(bAVMs)remains one of the most prevalent causes of intracranial hemorrhage and stroke-like syndromes in the young adult population.Although it has been agreed upon that defi...BACKGROUND Brain arteriovenous malformations(bAVMs)remains one of the most prevalent causes of intracranial hemorrhage and stroke-like syndromes in the young adult population.Although it has been agreed upon that definitive treatment using either single or multi-modal approach is warranted for successful bAVM management,much debate still revolves regarding the optimal timing of definitive treatment.CASE SUMMARY In this report,we present a case of delayed,definitive endovascular treatment for ruptured bAVM in a 21-year-old female,3 mo post-ictus.The bAVM,with a left pericallosal feeding artery and cortical draining veins,was successfully obliterated through embolization using the Onyx 18.On follow-up the patient has recommenced her daily activities and experiences only mild occasional headaches with mild motor deficits.The report leads to our review on an important issue regarding the optimal timing of ruptured bAVM definitive management and bring forward the current evidence available on delayed vs immediate definitive bAVM intervention.We also highlight current issues that need to be addressed for clearer guidelines on definitive therapy initiation.CONCLUSION Current treatment paradigms of ruptured bAVM remains elusive,with substantial heterogeneity in the current literature.A consensus on the definition of“acute”vs“delayed”,management goal,follow-up length and outcome parameters are required to support formation of a clear paradigm.展开更多
BACKGROUND Ischemic colitis with inferior mesenteric arteriovenous malformation(AVM)is a rare disease.Although a few reports have been published,no report has described the natural history of idiopathic mesenteric AVM...BACKGROUND Ischemic colitis with inferior mesenteric arteriovenous malformation(AVM)is a rare disease.Although a few reports have been published,no report has described the natural history of idiopathic mesenteric AVM.CASE SUMMARY A 50-year-old male was admitted to our hospital due to abdominal pain that had persisted for 3 mo and bloody diarrhea.He had no history of trauma or abdominal surgery.He had undergone two colonoscopies 6 mo and 2 years ago,and they showed only a polyp.He was diagnosed with ischemic colitis with inferior mesenteric AVM following contrast-enhanced abdominal computed tomography(CT)and underwent rectal low anterior resection.He has not had a recurrence of symptoms for 3 years.His history showed that he had undergone non-enhanced abdominal CT 2,5,and 8 years ago when he had attacks of urinary stones.Retrospectively,dilation of blood vessels around the rectosigmoid colon could have been detected 5 years ago,and these findings gradually became more evident.CONCLUSION This is the first report of the natural history of inferior mesenteric AVM.展开更多
Introduction: The congenital malformations of the ear are rare and often isolated, may be unilateral or bilateral, and can be associated with another syndromic malformation. Such malformations so not necessarily impac...Introduction: The congenital malformations of the ear are rare and often isolated, may be unilateral or bilateral, and can be associated with another syndromic malformation. Such malformations so not necessarily impact aesthetics and social relations. Case Presentation: The authors report the case of Samuel M, male born at 38 WA, who is the first child of healthy parents from the same socio-cultural area. His birth weight was 2800 g and he did not have any risk factors for deafness or concept of obstetrical trauma. He presented with congenital malformation manifesting as bilateral ear aplasia with unilateral facial paralysis. Computed tomography revealed abnormalities of the inner ear;functional explorations, such as PEA and OEA, showed findings in favor of bilateral cophosis. ASSR (Auditory Steady-State Responses) was not performed. The announcement of the serious diagnosis of deafness requires multidisciplinary care in order to plan a therapeutic program to limit the impact on the development of language, schooling, and consequently, the socio-professional future of children. Conclusion: This clinical case underlines the fact that interest of the clinical interview before possible multiple surgery does not always guarantee the satisfaction of the desire for repair in this type of patient.展开更多
A 28-year-old man presented with anemia symptoms and intermittent tarry stool passage for three days. No stigmata of hemorrhage were identified using esophagogastroduodenoscopy, ileocolonoscopy, and contrast-enhanced ...A 28-year-old man presented with anemia symptoms and intermittent tarry stool passage for three days. No stigmata of hemorrhage were identified using esophagogastroduodenoscopy, ileocolonoscopy, and contrast-enhanced computed tomography. He then developed massive tarry stool passage with profound hypovolemic shock and hypoxic respiratory failure. Emergent angiography revealed active bleeder, probably from the jejunal branches of the superior mesenteric artery, but embolization was not performed due to possible subsequent extensive bowel ischemia. His airway was secured via endotracheal intubation with ventilator support, and emergent antegrade singleballoon enteroscopy was performed at 8 h after clinical overt bleeding occurrence; the procedure revealed a 2-cm pulsating subepithelial tumor with a protrudingblood plug at the distal jejunum. Laparoscopic segmental resection of the jejunum with end-to-end anastomosis was performed after emergent endoscopic tattooing localization. Pathological examination revealed a vascular malformation in the submucosa with an organizing thrombus. He was uneventfully discharged 5 d later. This case report highlights the benefit of early deep enteroscopy for the treatment of small intestinal bleeding.展开更多
Vascular anomalies represent a wide spectrum of pathology with different clinico-pathological characteristics. Approximately 60% of them occur in the head and neck region. A variety of therapeutic modalities have been...Vascular anomalies represent a wide spectrum of pathology with different clinico-pathological characteristics. Approximately 60% of them occur in the head and neck region. A variety of therapeutic modalities have been reported to manage vascular anomalies over the years, including surgical resection,展开更多
Vascular anomalies constitute some of the most difficult diagnostic and therapeutic enigmas that can be encountered in the practice of medicine. The clinical presentations are extremely protean and can range from an a...Vascular anomalies constitute some of the most difficult diagnostic and therapeutic enigmas that can be encountered in the practice of medicine. The clinical presentations are extremely protean and can range from an asymptomatic birthmark to fulminant。展开更多
文摘Introduction: Arteriovenous malformation is a rare pathology, often discovered accidentally in children. Generally, it presents as an intra-parenchymal hematoma following rupture of the affected vessels. The risk of rupture is linked to the volume of the malformation, its cortical location and venous drainage. In literature, few cases of rupture have been reported in cases of meningitis, but none are associated with a brain abscess. Objective: To report a case of an intraparenchymal hemorrhage due to rupture of an arteriovenous malformation with an associated brain abscess. Observation: The authors report the case of a 2-year-old child, admitted for impaired state of consciousness associated with a right hemiparesis and seizures in a febrile context. Clinical evaluation revealed a Blantyre score of 3, fever at 40˚C, divergent strabismus of the right eye, a right pyramidal syndrome and meningeal irritative syndrome. Cerebral CT scan revealed a left fronto-parietal intra-parenchymal hematoma and a right occipital ring-enhanced lesion, suggesting a brain abscess. An MRI suggested a probable rupture of an arteriovenous malformation resulting in the intra-parenchymal hematoma. Management consisted of craniotomy to evacuate the intra-parenchymal hematoma, antibiotic therapy with vancomycin and ceftriaxone at meningeal doses. Histopathological analysis of the intraoperative sample revealed an arteriovenous malformation. The postoperative course was marked by regression of hyperthermia, persistence of spasticity, irritability and clonic movement of the right lower limb. These were managed with baclofen, phenobarbital, and ergotherapy. We observed a regression of spasticity and improved motor skills in the right limbs. At 6 months follow-up, child could interact with his social environment despite aphasia, regression of spasticity and right hemiparesis. Conclusion: Rupture of arteriovenous malformations can be enhanced by neuro-meningeal infections and particularly brain abscesses. Cerebrovascular complications of these conditions mostly have unfavorable outcomes and neurological sequelae.
文摘Cerebral cavernous malformations are a rare and congenital vascular malformation that can present as a challenge in neurosurgical management. The term “giant cerebral cavernous malformations” still does not have a clear definition in the literature, with a wide variety of results. It is known, however, that there is an association between the size of the cavernoma and postoperative sequelae, especially in those with a size greater than 3 cm in its largest diameter. We present a case report of resection of a giant brain cavernoma measuring approximately 8 cm in its largest diameter, emphasizing on clinical presentation, diagnoses and postoperative evolution. Additionally, we performed a comprehensive review of the existing literature on the subject, addressing the epidemiology, pathophysiology, diagnostic methods, treatment options, and prognosis associated with this condition.
文摘BACKGROUND Acute lower gastrointestinal bleeding(LGIB)is a common occurrence in clinical practice.However,appendiceal bleeding is an extremely rare condition that can easily be overlooked and misdiagnosed.The preoperative detection of appen-diceal bleeding often poses challenges due to the lack of related guidelines and consensus,resulting in controversial treatment approaches.CASE SUMMARY We presented a case of a 33-year-old female who complained of hematochezia that had lasted for 1 d.Colonoscopy revealed continuous bleeding in the appen-diceal orifice.A laparoscopic appendectomy was performed immediately,and a pulsating blood vessel was observed in the mesangium of the appendix,accor-dingly,active bleeding into the appendicular lumen was considered.Pathological examination revealed numerous hyperplastic vessels in the appendiceal mucosa and dilated capillary vessels.CONCLUSION The preoperative detection of appendiceal bleeding is often challenging,colo-noscopy is extremely important,bowel preparation is not routinely recommend-ed for patients with acute LGIB or only low-dose bowel preparation is recom-mended.Laparoscopic appendectomy is the most appropriate treatment for appendiceal bleeding.
文摘BACKGROUND Vascular malformations(VMs)arise as a result of errors in the process of angiogenesis and are usually present at birth,but may not become apparent until after birth.However,giant VMs of the head and face are uncommon,with few reported cases,and the prognosis for their surgical intervention is unclear.CASE SUMMARY A 12-year-old girl was admitted to the hospital with findings of an enlarged right temporal scalp.After admission,computed tomography(CT)angiography of cerebral ateries showed a right occlusal gap and a right temporal artery venous malformation.Furthermore,cerebral angiography showed a right temporal lobe VM with multiple vessels supplying blood.The patient underwent surgery to remove the malformed vessels and the eroded skull.Two hours after the surgery,the patient's right pupil was dilated,and an urgent CT scan of the skull showed a right subdural haematoma under the incision,which was urgently removed by a second operation.After surgery,we gave continuous antibiotic anti-infection treatment,and the patient recovered well and was discharged two weeks later.CONCLUSION Surgical removal of giant haemangiomas is risky and adequate preoperative(including interventional embolisation)and intraoperative preparations should be made.
基金Supported by Beijing Municipal Science and Technology Project,No.Z201100005520095.
文摘BACKGROUND Digital subtraction angiography(DSA),the gold standard for the diagnosis of intracranial arteriovenous malformations(AVMs),can show clean nidus resection,leading to a perceived cure.Most cases of intracranial AVM recurrence have been reported in pediatric patients.The conventional understanding indicates that AVMs arise when abnormal blood vessels develop between the fourth and eighth weeks of embryonic development,which coincides with the typical period of blood vessel formation in the brain.As such,recurrent ectopic AVM are rare in adults.CASE SUMMARY Herein,we present the case of a 31-year-old adult with a history of an intracranial AVM originally diagnosed with a symptomatic de novo cerebellar AVM formation.Recurrence was observed five years following angiographically-confirmed excision of the initial AVM.DSA performed prior to initial AVM resection indicated no cerebellar abnormalities.Moreover,the recurrent arteries exhibited differences in arteries and draining veins.In addition to reporting this case,we analyzed six previously-reported adult patients with similar ectopic recurrent AVMs.These cases are summarized to review and explore the potential causes of ectopic AVM recurrence in adults,which increase the likelihood of acquired AVM.CONCLUSION The clinical course of the reported patients demonstrated the possibility of ectopic AVM recurrence in adults.The median time between the diagnosis of the initial AVM and the occurrence of ectopic recurrent AVM in adults was 11 years(range:5–20 years).Magnetic resonance imaging follow-up for more than 10 years may be required in adult AVM-treated patients.
文摘BACKGROUND The rare co-occurrence of oligodendroglioma and arteriovenous malformation(AVM)in the same intracranial location.CASE SUMMARY In a 61-year-old man presenting with progressive headaches,is described in this case study.Preoperative multimodal imaging techniques(computed tomography,magnetic resonance imaging,magnetic resonance spectroscopy,digital subtraction angiography,and computed tomography angiography)were employed to detect hemorrhage,cystic and solid lesions,and arteriovenous shunting in the right temporal lobe.The patient underwent right temporal craniotomy for lesion removal,and postoperative pathological analysis confirmed the presence of oligodendroglioma(World Health Organization grade II,not otherwise specified)and AVM.CONCLUSION The preoperative utilization of multimodal imaging examination can help clinicians reduce the likelihood of misdiagnosis or oversight of these conditions,and provides important information for subsequent treatment.This case supports the feasibility of craniotomy for the removal of glioma with AVM.
文摘In this study, we present a representative case of multiple glomuvenous malformation in a 12-year-old female patient. Approximately five years ago, the patient developed multiple blue-purple papules and plaques on her hypogastrium and right thigh, which progressively enlarged and presented tenderness. Histopathological examination confirmed the diagnosis of glomuvenous malformation. Following two injections of lauromacrogol, a significant improvement was observed in the lesions, including a resolution of tenderness. These findings suggest that sclerotherapy not only exhibits evident therapeutic efficacy but also effectively alleviates pain while addressing both aesthetic and therapeutic concerns.
文摘Abnormal SEP reflects dysfunction of the medial lemniscus and posterior cervical cord. These structures are likely to be affected in Chiari malformation. Therefore, SEP abnormalities may provide valuable information in patients with CM. However, the consistency of SEP abnormality or normality with the damage is a matter of research. Knowing whether median nerve somatosensory evoked potential (SEP) is useful in revealing subclinical damage in patients with Chiari malformation is important in the treatment and follow-up plan of the disease. The aim of this study was to investigate the relationship between median nerve SEP values and the severity of cerebellar ectopia in patients with Chiari type 1 malformation. Median nerve SEP values were obtained from 30 healthy individuals and 146 individuals with Chiari malformation. The cerebellar ectopia degree and McRae line length were measured. SEP values were not significantly different between groups. The McRae line was found to be significantly shorter in the control group than in the Chiari malformation group (p = 0.031). There was no correlation between the degree of cerebellar ectopia and the length of the McRae line (r = 0.002, p = 0.979). Neither cerebellar ectopy degree nor McRae line length had a relationship with SEP values (r = -0.153, p = 0.066;r = -0.056, p = 0.500, respectively). There was no difference in cerebellar ectopy degree or SEP values between the groups with cerebellar ectopy with and without a syrinx (p = 0.899;p = 0.080, respectively). Likewise, McRae line length was not found to be related to the presence of a syrinx (p = 0.139). Median nerve SEP examination was not beneficial for diagnosing asymptomatic-oligosymptomatic Chiari malformation as a subclinical injury, whether accompanied by syringomyelia or not.
文摘Introduction: Congenital hypothyroidism is the most common causes of preventable mental retardation. It is associated with other births defects like cardiac malformations. Descriptions in Sub Saharan Africa are rare, justifying the present report. Case Report: We reported the cases of 3 female patients, diagnosed with hypothyroidism, presenting in addition pulmonary stenosis. The diagnosis was late in all the patients and we noticed clinical improvement under levothyroxine. Conclusion: Association congenital hypothyroidism and cardiac defect is not rare. Our patients are female with no history of consanguinity, presenting congenital hypothyroidism with a gland in situ associated with pulmonary stenosis. Systematic screening of other births defects is thus recommended in affected patients.
文摘Introduction: Lymphaticovenous malformations (LVM) are benign congenital anomalies of the venous and lymphatic systems, frequently presenting as complex masses in the head and neck region of children. While the clinical features of LVM are well-documented, there is a lack of comprehensive studies addressing their holistic impact on affected children and their families. Objectives: This qualitative study explores the physical, psychological, and social challenges faced by children with head and neck LVM and the emotional and financial burdens experienced by their parents. It also evaluates the effectiveness of a multidisciplinary approach in managing these challenges. Methods: Over seven months, data were collected through monthly multidisciplinary team (MDT) clinics, bi-monthly tele-clinics, and continuous email communication. The MDT included interventional radiologists, surgeons, psychologists, physiotherapists, nurse specialists, and administrative staff. Additional specialists were consulted as needed. The study focused on children’s physical symptoms (appearance concerns, pain, infections, bleeding, heaviness, tongue involvement), psychological and social issues (bullying, self-esteem, social isolation, school absenteeism), and parental concerns. Management strategies and their outcomes were also documented. Results: Children with LVM experienced significant distress due to visible deformities, chronic pain, and recurrent infections, leading to social isolation, bullying, and low self-esteem. Parents reported constant stress over their child’s well-being, concerns about social interactions, and financial strain from taking time off work for care and medical appointments. Interventions—including surgical procedures and interventional radiology treatments like sclerotherapy, counseling, laser treatments, and camouflage techniques—resulted in reported improvements across physical, psychological, and social domains. Conclusions: LVM significantly impacts the biopsychosocial well-being of both children and their parents. A multidisciplinary approach is essential for effective management, addressing not only the medical but also the psychological and social needs of affected families. Future studies with larger, multi-center cohorts are recommended to further validate these findings and explore new therapeutic strategies.
文摘Objective:To investigate the computed tomography(CT)and magnetic resonance imaging(MRI)features of cavernous hemangioma malformation(CHM)to enhance diagnostic accuracy.Methods:The CT and MRI findings and clinical information of 23 patients with CHM were retrospectively analyzed.Results:CT examinations were conducted in 7 cases,while MRI was utilized in 23 cases.Additionally,SWI was employed in 5 cases and enhanced imaging techniques were applied in 14 cases.Among the observed lesions,20 cases presented with a singular lesion,whereas 3 cases exhibited multiple lesions.The lesions were located in 8 frontal lobes,6 cerebellums,2 brainstems,6 temporal lobes,1 basal ganglia,3 parieto-occipital lobes,and 2 thalamus regions.The nodules appeared as quasi-circular lesions with clear or well-defined boundaries.They presented as isodense lesions on CT scans,with one lesion showing peritumoral edema.On MRI,T1-weighted imaging(T1WI)demonstrated isointense signals,while T2-weighted imaging(T2WI)showed isointense and hyperintense signals.Additionally,10 lesions exhibited a low signal ring on T2WI.Diffusion-weighted imaging(DWI)revealed nodular or isointense low signals,while susceptibility-weighted imaging(SWI)displayed enlarged areas of low signal.Fourteen lesions underwent contrast-enhanced scanning,with 2 lesions showing no obvious enhancement,1 lesion demonstrating mild to moderate enhancement,and 11 lesions exhibiting significant enhancement.Notably,6 of these enhanced lesions were surrounded by small blood vessels.Conclusion:Cavernous hemangioma malformation is more commonly found in individual cases.CT alone lacks specificity,making it prone to misdiagnosis.A more comprehensive evaluation of cavernous hemangioma malformation can be achieved through a combination of MRI,DWI,SWI,and enhanced examination,providing valuable references for clinical assessment.
基金the Medical Health Science and Tech-nology General Program of Guangzhou,No. 2009-YB-042
文摘Cerebral cavemous malformation （CCM） is a frequently occurring disease in Latin American populations, but little is known about the prevalence in China. This study enrolled one Chinese family with CCM, comprising 16 members; four were diagnosed with CCM which corresponded with autosomal incomplete dominance inheritance. The main clinical manifestations included headache, focal neural dysfunction, and cerebral hemorrhage. The lesions were a mixture of hyperintensity and hypointensity signals on TlWl and T2Wl, with a black hypointensity ring on T2Wl. CCM cranial magnetic resonance imaging T2Wl revealed an iron ring as a result of hemosiderin deposition. Pathological findings of CCM revealed tightly packed and variably thickened vascular channels lacking smooth muscle or elastic tissue. Intralesional hyalinosis, calcification, or bleeding of different phases and perilesional glial hyperplasia were observed, as well as hemosiderin deposition within or around the lesions. These features of this family were consistent with specific genetic, imaging and pathological features of familial CCM. Pathological characteristics reveal repeated hemorrhage, as well as intralesional and perilesional hemosiderin deposition.
文摘BACKGROUND： A cerebral cavernous malformation-1 （CCM1） gene mutation might result in functional loss of KREV interaction trapped-1 （KRIT1）, which is related to onset of cavernous malformations （CM）. However, data addressing sporadic CM in Chinese patients remains limited to date. OBJECTIVE： To analyze CCM1 mutation of Chinese patients with sporadic intracranial CM. DESIGN, TIME AND SETTING： Genetics experiment was performed in the Department of Neurosurgery, Huashan Hospital Affiliated to Hehai University between January 2004 and December 2005. PARTICIPANTS： Ninety patients with sporadic CM served as the CM group, and 30 healthy subjects were considered to be the control group. METHODS： Peripheral blood was collected from patients with CM and from control group subjects Genomic DNA was extracted, and exons 8, 9, 11, 12, 13, 15, 16, 17, and 18, as well as the related introns, were amplified using polymerase chain reaction. DNA sequences were compared with GeneBank. MAIN OUTCOME MEASURES： Abnormal mutable site of CCM1 gene in the two groups. RESULTS： Four exclusive mutations of CCM1 were detected in the CM group, with a sporadic CM mutational rate of 32% （6/19）. Of the four exclusive mutations, there was one missense mutation [exon 12, 1172C→T （S391 F）], one insertion mutation [exon 8, 704insT （K246stop）], one intervening sequence mutation （IVS12-4C→T）, and one synonymous mutation （exon 17, 1875C→T）. With the exception of 1875C→T, all mutations detected in the CM group led to functional changes of the KRIT1 protein, which was encoded by the CCM1 gene. Gene mutations were not detected in the control group. CONCLUSION： Four exclusive mutations of the CCM1 gene were determined in Chinese patients with sporadic CM, which led to functional changes or loss of the encoding KRIT1 protein. KRIT1 protein is considered to be the genetic basis of CM occurrence.
文摘A 75-year-old man presented with knee pain due to medial osteoarthritis of the knee in the orthopedic outpatient clinic. Conservative treatment was started with steroid infiltration. Besides his knee complaint reported a bilateral painless swollen calf muscle without traumatic cause, and also without any pain at night, fever or medical illness. On physical examination the soleus muscle had a swollen aspect in both calfs. The skin appeared normal without deformities and the arterial pulsations were intact. An X-ray did not show abnormalities in the tibia. Magnetic resonance imaging of the legs revealed bilateral multiple saccular intramuscular venous malformations involving the soleus muscle. Intramuscular venous malformations in skeletal muscles are rare, especially when the occurrence is bilateral. Bilateral venous malformations have the potential to be missed because of the intramuscular localization. Symptoms of intramuscular venous malformation can be often mild and overlap with nonexercise related compartment syndrome, claudication, lymphedema and post thrombotic syndrome or muscle strains.
文摘BACKGROUND Brain arteriovenous malformations(bAVMs)remains one of the most prevalent causes of intracranial hemorrhage and stroke-like syndromes in the young adult population.Although it has been agreed upon that definitive treatment using either single or multi-modal approach is warranted for successful bAVM management,much debate still revolves regarding the optimal timing of definitive treatment.CASE SUMMARY In this report,we present a case of delayed,definitive endovascular treatment for ruptured bAVM in a 21-year-old female,3 mo post-ictus.The bAVM,with a left pericallosal feeding artery and cortical draining veins,was successfully obliterated through embolization using the Onyx 18.On follow-up the patient has recommenced her daily activities and experiences only mild occasional headaches with mild motor deficits.The report leads to our review on an important issue regarding the optimal timing of ruptured bAVM definitive management and bring forward the current evidence available on delayed vs immediate definitive bAVM intervention.We also highlight current issues that need to be addressed for clearer guidelines on definitive therapy initiation.CONCLUSION Current treatment paradigms of ruptured bAVM remains elusive,with substantial heterogeneity in the current literature.A consensus on the definition of“acute”vs“delayed”,management goal,follow-up length and outcome parameters are required to support formation of a clear paradigm.
文摘BACKGROUND Ischemic colitis with inferior mesenteric arteriovenous malformation(AVM)is a rare disease.Although a few reports have been published,no report has described the natural history of idiopathic mesenteric AVM.CASE SUMMARY A 50-year-old male was admitted to our hospital due to abdominal pain that had persisted for 3 mo and bloody diarrhea.He had no history of trauma or abdominal surgery.He had undergone two colonoscopies 6 mo and 2 years ago,and they showed only a polyp.He was diagnosed with ischemic colitis with inferior mesenteric AVM following contrast-enhanced abdominal computed tomography(CT)and underwent rectal low anterior resection.He has not had a recurrence of symptoms for 3 years.His history showed that he had undergone non-enhanced abdominal CT 2,5,and 8 years ago when he had attacks of urinary stones.Retrospectively,dilation of blood vessels around the rectosigmoid colon could have been detected 5 years ago,and these findings gradually became more evident.CONCLUSION This is the first report of the natural history of inferior mesenteric AVM.
文摘Introduction: The congenital malformations of the ear are rare and often isolated, may be unilateral or bilateral, and can be associated with another syndromic malformation. Such malformations so not necessarily impact aesthetics and social relations. Case Presentation: The authors report the case of Samuel M, male born at 38 WA, who is the first child of healthy parents from the same socio-cultural area. His birth weight was 2800 g and he did not have any risk factors for deafness or concept of obstetrical trauma. He presented with congenital malformation manifesting as bilateral ear aplasia with unilateral facial paralysis. Computed tomography revealed abnormalities of the inner ear;functional explorations, such as PEA and OEA, showed findings in favor of bilateral cophosis. ASSR (Auditory Steady-State Responses) was not performed. The announcement of the serious diagnosis of deafness requires multidisciplinary care in order to plan a therapeutic program to limit the impact on the development of language, schooling, and consequently, the socio-professional future of children. Conclusion: This clinical case underlines the fact that interest of the clinical interview before possible multiple surgery does not always guarantee the satisfaction of the desire for repair in this type of patient.
文摘A 28-year-old man presented with anemia symptoms and intermittent tarry stool passage for three days. No stigmata of hemorrhage were identified using esophagogastroduodenoscopy, ileocolonoscopy, and contrast-enhanced computed tomography. He then developed massive tarry stool passage with profound hypovolemic shock and hypoxic respiratory failure. Emergent angiography revealed active bleeder, probably from the jejunal branches of the superior mesenteric artery, but embolization was not performed due to possible subsequent extensive bowel ischemia. His airway was secured via endotracheal intubation with ventilator support, and emergent antegrade singleballoon enteroscopy was performed at 8 h after clinical overt bleeding occurrence; the procedure revealed a 2-cm pulsating subepithelial tumor with a protrudingblood plug at the distal jejunum. Laparoscopic segmental resection of the jejunum with end-to-end anastomosis was performed after emergent endoscopic tattooing localization. Pathological examination revealed a vascular malformation in the submucosa with an organizing thrombus. He was uneventfully discharged 5 d later. This case report highlights the benefit of early deep enteroscopy for the treatment of small intestinal bleeding.
文摘Vascular anomalies represent a wide spectrum of pathology with different clinico-pathological characteristics. Approximately 60% of them occur in the head and neck region. A variety of therapeutic modalities have been reported to manage vascular anomalies over the years, including surgical resection,
文摘Vascular anomalies constitute some of the most difficult diagnostic and therapeutic enigmas that can be encountered in the practice of medicine. The clinical presentations are extremely protean and can range from an asymptomatic birthmark to fulminant。
