Narcolepsy presenting as schizophrenia: a literature review and two case reports

Schizophrenia is a psychiatric disorder that causes significant disability and morbidity. Narcolepsy is a disorder, less prevalent than schizophrenia, but a disorder in which symptoms overlap with schizophrenia. This overlap in symptoms can cause narcolepsy to be confused with schizophrenia. The differences and similarities between narcolepsy and schizophrenia are discussed in the context of two cases. The first case describes an adolescent and the second case describes a refractory case of narcolepsy that did not respond to stimulants. Both cases were previously diagnosed as schizophrenia and did not respond to trials of antipsychotics and other psychotropics. The patients were reevaluated and referred to sleep testing at our facility for clinical suspicion of narcolepsy. Both patients underwent polysomnography with subsequent multiple sleep latency testing. The sleep testing results and multiple sleep latency testing criteria for narcolepsy are also discussed. The patients were treated for narcolepsy resulting in remission of the psychotic symptoms with significant behavioral improvement. We recommend that psychiatrists consider narcolepsy in the differential diagnosis when faced with refractory psychosis.     

Familial Chiari type I malformation with syringomyelia in two siblings: case report and review of the literature

Objective Familial cases of Chiari malformation with syringomyelia are rare. The majority of the reported series and case reports detail sporadic cases. The authors report two siblings who presented with Chiari type I malformation and syringomyelia (CMI+S).Clinical presentation We report two sisters who each presented with scoliosis on routine school physicals. Their clinical examination was unremarkable; however, imaging studies demonstrated a Chiari malformation with syringomyelia. Both underwent cervicomedullary decompression, and follow-up imaging studies revealed resolution of the syringomyelia.Conclusion A review of the literature reveals fewer than ten previous reports of familial CMI+S in the past 30 years. Although rare, the existence of familial cases of CMI+S suggests a genetic component to the pathogenesis of this condition in at least a proportion of patients. Neurosurgeons should be aware of the familial aggregation of CMI+S.     

成人颅内神经母细胞瘤(1例报告并文献复习)

目的探讨原发性颅内神经母细胞瘤的临床、影像及病理学特点,以及治疗策略和预后。方法回顾性分析南京军区福州总医院神经外科收治的1例成人左侧额叶神经母细胞瘤患者的临床资料,将其临床、影像及病理学特点结合相关文献进行分析,并对患者进行跟踪随访。结果本例患者行神经导航下开颅肿瘤切除术,病理学检查证实为颅内神经母细胞瘤,术后以替莫唑胺同步放、化疗,后继以6周期辅助化疗。患者已无瘤生存4年,无明显神经功能缺失表现。结论成人颅内神经母细胞瘤极为少见且恶性程度高,手术完全切除肿瘤及术后正规放、化疗可显著提高患者的生存率。     

原发性脊膜黑色素细胞瘤一例并文献复习

目的报告一例经病理证实的原发性脊膜黑色素细胞瘤,并通过相关文献复习,探讨该疾病的临床特点、诊断、治疗及预后。方法回顾性分析该病例的临床表现、影像学特征、病理学特征等资料,结合相关文献,对该罕见疾病进行探讨。结果本例患者病变位于颈7~胸1节段椎管内,为髓外硬膜下病变,术前检查完善后行颈7椎板切除、椎管内占位性病变切除、脊椎内固定术。术后病理检验结果提示脊膜黑色素细胞瘤。结论原发性脊膜黑色素细胞瘤是一种罕见的中枢神经系统良性肿瘤,具有一定的复发率,并可能向恶性黑色素瘤转变,临床需要与恶性黑色素瘤、转移性黑色素瘤等相鉴别。目前主要的治疗方案是手术治疗,手术不能完全切除的患者,辅助放疗可以有效改善预后。     

眶内眼动脉瘤合并脑海绵状血管畸形一例并文献复习

目的探讨眶内眼动脉瘤合并连续出血的脑海绵状血管畸形的临床表现特点和诊治要领。方法报告1例眶内眼动脉瘤并发反复出血的脑海绵状血管畸形患者临床资料,并复习相关文献。结果该患者先行脑海绵状血管畸形切除,分期手术作眶内眼动脉瘤夹闭,治疗结果良好。结论眶内眼动脉瘤极其罕见,应个体化制定治疗方案;手术夹闭动脉瘤颈是眶内眼动脉瘤的首选治疗方法。     

Cavernous malformation of the hypoglossal nerve: case report and review of the literature

OBJECTIVE: To describe a patient who presented with a hypoglossal nerve palsy caused by a cavernous malformation, review the literature on cavernous malformations associated with cranial nerves and the differential diagnosis of hypoglossal palsy. RESULTS: Partial resection of the lesion was achieved and the diagnosis of cavernous malformation proven histologically. CONCLUSIONS: Involvement of a cranial nerve by a cavernous malformation is very uncommon and the facial nerve is the example most frequently reported. This case report adds another possible site for this rare occurrence.     

A peri-trigonal giant tumefactive cavernous malformation: case report and review of literature

Introduction  

Giant cavernous malformations (GCMs) constitute an uncommon entity in the diagnostic armamentarium of the neurosurgeon. We report a 3-year-old boy with a GCM in the peri-trigonal region and review 13 other paediatric cases previously reported in literature.     

Split cord malformation and situs inversus totalis: case report and review of the literature

Introduction Situs inversus is a rare condition of visceral transposition in which the spinal axis is rarely affected.Case report The authors report a patient with situs inversus totalis and Type II split cord malformation. The patient had no symptoms and presented with scoliosis.Conclusions Recent compelling evidence from animal models and human case reports has lead to hypotheses that defects of the midline and laterality defects (e.g., situs inversus) are etiologically related. Confirmation from additional case reports of situs inversus and split cord malformation could prove useful in determining a genetic locus for split cord malformations or implicating various chemical agents that are known to produce situs inversus as potential causative factors in the production of split cord malformations.     

Split cord malformation and situs inversus totalis: case report and review of the literature

Introduction Situs inversus is a rare condition of visceral transposition in which the spinal axis is rarely affected.Case report The authors report a patient with situs inversus totalis and type II split cord malformation. This patient had no complaints and presented with scoliosis.Conclusions Recent compelling evidence from animal models and human case reports has led to hypotheses that defects of the midline and laterality defects (e.g., situs inversus) are etiologically related. Confirmation from additional case reports of situs inversus and split cord malformation could prove useful in determining a genetic locus for split cord malformations or implicating various chemical agents that are known to produce situs inversus as potential causative factors in the production of split cord malformations.     

Cerebral amyloid angiopathy presenting as a posterior leukoencephalopathy: a case report and review of the literature

Cerebral amyloid angiopathy (CAA) is well known to present with lobar intracerebral hemorrhage, dementia or transient neurological events. White matter changes with CAA have only been recently described and can be seen with either sporadic or familial CAA. We present a 50-year-old man with rapidly progressive dementia in whom MRI brain showed symmetrical white matter changes in the parieto-occipital regions. Brain biopsy revealed changes of CAA along with features of Alzheimer's disease. Immunohistochemistry revealed amyloid beta protein. The subcortical lesions were thought to occur from hypoperfusion of the distal white matter. The role of amyloid in the pathogenesis of CAA and the mechanism of leukoencephalopathy are discussed.     

Atypical choroid plexus papilloma in adults: case report and literature review

IntroductionAtypical choroid plexus papilloma is a rare tumour, recently defined by the World Health Organisation and with very few cases reported to date. Choroid plexus tumours are rare intraventricular neoplasms originating from choroid plexus epithelium, with benign papillomas being more frequent than carcinomas. Most of these lesions appear in children, mainly located in the lateral ventricles. Those arising from the fourth ventricle are more frequent in adulthood. Surgery with complete resection can be curative in papillomas, with 5-year survival rates close to 100% and occasional recurrences. Radical surgery in carcinomas is difficult and usually requires adjuvant therapy, prognosis is worse and survival rates are lower. We report a case of atypical choroid plexus papilloma in adulthood located in the fourth ventricle, describing the different therapeutic options and reviewing the existing literature.Case report38-year old male with an atypical choroid plexus papilloma located in the fourth ventricle, totally resected by posterior fossa craniectomy and telovellar approach.ConclusionAtypical choroid plexus papillomas are associated with an increased risk of recurrence or malignant transformation when compared to “typical” papillomas. At present, complete surgical excision and close follow-up seems to be the most reliable treatment. Adjuvant chemotherapy or radiotherapy should be considered in cases of partial resection, recurrence or dissemination.     

Neonatal adrenoleukodystrophy presenting with seizure at birth: a case report and review of the literature

Neonatal seizures are critical conditions because they are usually related to significant illnesses that require a specific therapy. Antepartum and peripartum seizures are very rare, and represent signs of prenatal-onset neurologic dysfunction. A review of the literature revealed that the main etiologies include severe brain malformations, multiple anomalies, and metabolic encephalopathy. A high incidence of early fatality and serious neurologic sequelae were noted. To our knowledge, this is the first case report of neonatal adrenoleukodystrophy presenting with seizure at birth. These very-early-onset seizures may require unique diagnostic and therapeutic considerations, in contrast with the later onset of seizures in neonates.     

Glioblastoma multiforme presenting with ischemic stroke: case report and review of the literature

A 58-year-old woman presented with acute onset of global aphasia. Imaging studies revealed a left frontotemporal enhancing tumor and ischemic stroke in the territory of the middle cerebral artery. The patient was operated on, and the diagnosis of glioblastoma multiforme was confirmed. At the time of surgery, several branches of the left middle cerebral artery were found embedded in the tumor. One branch, which was infiltrated by tumor and completely occluded, was resected to achieve complete resection. Postoperatively, the stroke area within the middle cerebral artery territory increased, together with worsening of the patient's clinical status, thus requiring urgent decompressive craniectomy. Thereafter, the patient gradually improved, and received radiation therapy and chemotherapy with no recurrence after 24 months of follow-up. To our knowledge, glioblastomas presenting with ischemic stroke are rare, and such patients should be considered to be at high surgical risk.     

Cloacal exstrophy with extensive Chiari II malformation: case report and review of the literature

Introduction

Cloacal exstrophy is a rare condition characterized by a defect in the abdominal wall with extrusion of malformed abdominal contents. The normal separation of the genitourinary and gastrointestinal systems does not occur. While patients with cloacal exstrophy have a high incidence of spinal defects, cranial defects are rare. Chiari malformation has been rarely reported in children with cloacal exstrophy, although the embryogenesis is unknown.

Objective

In this report, the authors describe a child with cloacal exstrophy and a large myelocystocele. The child also had an extensive Chiari II malformation.

Results

We review the relevant embryology and suggest a possible mechanism for Chiari formation in this patient.     

Lipomyelomeningocele and arteriovenous malformation: case reports and a review of the literature

Introduction The caudal end of the human embryo is a major site of multipotential cells. We now present two cases of simultaneous arteriovenous malformation and lipomyelomeningocele and review the literature regarding this potential association.Discussion In the context of rarity and following a review of the literature, both an arteriovenous malformation and lipomyelomeningocele in the same patient appears to be more than serendipitous. The natural history of these vascular malformations in patients with concomitant lipoma or lipomyelomeningocele cannot be determined from such a small group. However, only one patient in our review was found to have consequences thought to be related to their arteriovenous malformation, which was in the upper thoracic region and not related to a lipomyelomeningocele.     

Central neurocytoma presenting with intraventricular hemorrhage: case report and review of literature

We report a case of a 25 year old man presenting with acute headache, vomiting and nuchal rigidity. Computed Tomography (CT) scan and MRI without contrast showed a right ventricular hemorrhage surrounding a mass lesion. The tumor and hematoma were completely removed by neurosurgical transcortical-transventricular approach. Anatomopathological analysis revealed a central neurocytoma. Central neurocytoma seldom present with hemorrhage. We review 16 cases of neurocytoma with hemorrhage. It is important to recognize central neurocytoma as a cause of intraventricular hemorrhage, especially in adolescents and young adults. Outcome is often favorable when the tumor is completely removed. In some patients the clinical course is more aggressive and additional treatment such as radiotherapy, radiosurgery or chemotherapy is needed.     

Pediatric intramedullary cavernous malformation of the conus medullaris: case report and review of the literature

Cavernous malformations of the conus medullaris are rare lesions; only 9 cases have been reported in the literature. Most cases are described in adults and only one case has been reported in pediatric age group. In this report, the authors describe a 16-year-old male presenting with acute myelopathy due to an intramedullary cavernous malformation of the conus medullaris. The clinical, radiological and surgical features of this patient are presented and discussed and relevant literature of this rare lesion is reviewed.     

Sparganosis presenting as a conus medullaris lesion: case report and literature review of the spinal sparganosis

BACKGROUND: Sparganosis is a rare parasitic infection affecting various organs, including the central nervous system. In rare cases, sparganosis may involve the spinal cord, usually at the thoracic area. We herein report, to our knowledge, the first case of sparganosis presenting as a conus medullaris lesion and review the literature of sparganosis involving the spinal cord. OBSERVATION: A 42-year-old man presented with progressive perianal paresthesia and sphincter disturbances. Results of enzyme-linked immunosorbent assay of the cerebrospinal fluid and surgical biopsy were consistent with sparganum infection affecting the conus medullaris. We reviewed 7 other cases of spinal sparganosis. CONCLUSIONS: Sparganosis may present as a conus medullaris lesion. This possibility should be considered when clinicians encounter patients with a conus medullaris lesion or cauda equina syndrome with uncertain diagnosis.