1/8. Thoracic spine arachnoid ossification with and without cord cavitation. Report of three cases.Thoracic spine arachnoid ossification is a relatively rare disease that affects mainly women and causes sensory, motor, and sphinctal symptoms associated with inferior limb pain. Based on three cases, the authors comment on pathogenic and surgery-related aspects of the disease. The patient in Case 1 was followed over the course of 23 years. Spinal cavitation is highlighted in Case 2, and yellow, gross, half-ring ossification is described in Case 3. calcium deposits usually occur in the middle and lower thoracic spine where the majority of trabeculated arachnoid cells are located. Operative treatment does not interrupt the ossification process, which continues over time, causing progressive deterioration in the patient. Spinal cavitation can occur due to spinal cord tethering, stretching, and central cord edema formation, accompanied by cerebrospinal fluid blockage and pulse pressure changes. The results of surgical intervention are poor, offering short-term recovery with later deterioration. Multiple pathogenic factors are involved in this clinical syndrome including metabolic changes.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/8. Pontocerebellar hypoplasia type 1: new leads for an earlier diagnosis.Pontocerebellar hypoplasia type 1 is a rare disease characterized by pontocerebellar hypoplasia and anterior horn cell degeneration. The oldest reported child died at the age of 26 months. Two siblings were diagnosed with pontocerebellar hypoplasia type 1 after the death of the second sibling at 40 months of age from respiratory failure and the unexpected finding of anterior horn cell degeneration on her autopsy. The older sibling was a boy who was labeled as having cerebral palsy. He died at 14 months of age from pneumonia following a clinical course similar to his sister's, who was born 5 years after his death. Both siblings had significant global developmental delay with axial and peripheral hypotonia initially. Peripheral hypertonia with brisk reflexes developed later but were absent prior to death. Extensive investigations in the second sibling ruled out known metabolic (including congenital disorders of glycosylation) and mitochondrial diseases using skin fibroblast cultures and enzyme analysis. genetic testing for Friedreich's ataxia; neuropathy, ataxia, and retinitis pigmentosa (NARP); spinal muscular atrophy; and spinocerebellar ataxia type 1, 2, 3, 6, 7, and 8 gene abnormalities was negative. The elecroretinogram showed a previously unreported finding of abnormal and progressive rod/cone response. Our cases provide clinical and previously unreported electroretinographic evidence for neurodegeneration in pontocerebellar hypoplasia type 1 and call for the expansion of the disease phenotype.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/8. Longitudinal analysis of hearing loss in a case of hemosiderosis of the central nervous system.OBJECTIVE: To describe cochleovestibular aspects of superficial hemosiderosis of the central nervous system. BACKGROUND: Superficial hemosiderosis of the central nervous system is a rare disease in which cochleovestibular impairment, cerebellar ataxia, and myelopathy are the most frequent signs. Chronic recurrent subarachnoidal hemorrhage with bleeding into the cerebrospinal fluid is the cause of deposition of hemosiderin in leptomeningeal and subpial tissue, cranial nerves, and spinal cord. Removing the cause of bleeding can prevent irreversible damage to these structures. Because this is the only effective treatment, an early diagnosis is crucial. STUDY DESIGN: Retrospective case review. SETTING: Tertiary referral center. PATIENT: A 72-year-old woman with superficial hemosiderosis of the central nervous system that developed when she was age 39. methods: Neurologic and imaging diagnostic examinations and longitudinal evaluation of cochleovestibular features were performed. neurosurgery was not performed. RESULTS: Progressive bilateral sensorineural hearing loss and severe vestibular hyporeflexia developed within 15 years, which can be attributed to lesions in the cochleovestibular system. Additional pathology of the central nervous system developed later. CONCLUSION: The patient demonstrated cochlear and vestibular findings that are typical of this pathologic condition. It is the first documented case with extensive serial audiometry used to precisely outline the degree of hearing deterioration during the course of the disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/8. Case of idiopathic thoracic spinal cord herniation with a chronic history: a case report and review of the literature.Idiopathic spinal cord herniation is a rare disease that presents with slowly progressive myelopathy. This article describes the clinical findings of a patient with a chronic history. A 68-year-old woman initially presented at the age of 32 years with left leg weakness. After slowly progressive neurological deterioration over 34 years, she became completely paraplegic. At the age of 66 years, magnetic resonance imaging resulted in a diagnosis of idiopathic spinal cord herniation at the T6/7 level. Surgery was performed to reduce aching of the lower extremities. The spinal cord was released from the dural defect through a T5-T8 laminectomy. The dural defect was enlarged by resecting its periphery to prevent reherniation of the spinal cord. After the surgery, pain in the lower extremities resolved and her motor function slightly improved. Although operative treatment is naturally recommended at the early stage of this disease, our case suggests that some symptoms can be resolved by surgical treatment despite prolonged, severe preoperative symptoms.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/8. cladosporium trichoides cerebral phaeohyphomycosis in a liver transplant recipient. Report of a case.cerebral phaeohyphomycosis (also referred to as cerebral chromomycosis), one of the diseases caused by the dematiaceous (black) fungi, is most commonly caused by cladosporium trichoides (referred to by some as Xylohypha bantiana) and is a rare disease, with 31 culture-proven cases reported to date. Although most cases have occurred in immunocompetent hosts, recent experimental evidence suggests that host immunosuppression may predispose patients to the disease. The authors report a case of fatal cerebral phaeohyphomycosis in a liver transplant patient, the first to occur in a transplant patient of any type, to the best of the authors' knowledge. This case provides support for the hypothesis that immunosuppressed patients may be at increased risk for development of this disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/8. Superficial hemosiderosis of the central nervous system.Superficial hemosiderosis (SH) of the CNS is a rare disease caused by repeated subarachnoid hemorrhage, with progressive superficial siderosis of the CNS. We report a patient with SH whose clinical picture was marked by progressive gait ataxia, hearing loss, dysarthria, and recurrent episodes of hemifacial spasm. iron and ferritin levels in the CSF were significantly higher than in a control group of patients. Six month's treatment with the iron-chelating agent trientine dihydrochloride led to clinical improvement, with a concomitant reduction of CSF iron level. We suggest that, in addition to magnetic resonance imaging findings, CSF levels of iron and ferritin should be used as diagnostic criteria for SH, as well as to estimate the efficacy of iron chelation treatment.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/8. Superficial siderosis of the central nervous system: an underestimated cause of hearing loss.Superficial siderosis of the central nervous system (CNS) is a rare disease resulting in the accumulation of haemosiderin in the meninges, the brain surface, the spinal cord and the cranial nerves. The pigment is deposited as a result of chronic bleeding in the subarachnoid space. This produces a clinical picture of deafness, ataxia, cranial nerve deficits and in the latest stages dementia. In some cases the source of bleeding can be identified, whilst in others it can not. Despite its rarity the disease should be considered in the differential diagnosis of sensorineural deafness, particularly as it is a progressive and in some cases curable disease which is easily diagnosed by magnetic resonance imaging (MRI). In this case report the haemosiderin was derived from an ependymoma of the fourth ventricle with extension into the cerebello-pontine angle. The first symptom was a worsening sensorineural hearing loss.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/8. uveitis and central nervous system vasculitis.vasculitis confined to the central nervous system (CNS) is a rare disease usually characterized by headache and focal neurologic symptoms. patients with primary vasculitis of the CNS may have symptoms and laboratory findings of systemic disease such as fatigue and elevated erythrocyte sedimentation rate, but by definition, focal inflammation should not be present outside the CNS. We describe 3 patients with uveitis in association with this diagnosis. The recognition of this association adds to the complex differential diagnosis of uveitis in association with CNS disease, and indicates that "isolated" angiitis of the CNS may display clinical features outside the brain and spinal cord.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |