1/120. Connatal pelizaeus-merzbacher disease associated with the jimpy(msd) mice mutation.In a patient with connatal pelizaeus-merzbacher disease with the same mutation in the proteolipid protein gene as in jimpy(msd) mice the immunohistochemical study of the brain demonstrated deficiencies of myelin and proteolipid protein despite good expression of myelin basic protein. The mechanism of myelination is partly disturbed by the mutation; therefore jimpy(msd) mice can be used as a suitable model for further studies in connatal pelizaeus-merzbacher disease.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
2/120. Inappropriate liver transplantation in a child with Alpers-Huttenlocher syndrome misdiagnosed as valproate-induced acute liver failure.A 3-yr-old boy received valproic acid (VPA) for recurrent seizures. He developed coma and acute liver failure that were attributed to VPA toxicity, and underwent emergency orthotopic liver transplantation (OLTx). Despite good graft function, his neurological state worsened and led to death a few months later. The diagnosis of Alpers-Huttenlocher syndrome (AHS) was suspected, subsequently to liver Tx, in view of ongoing neurologic deterioration and magnetic resonance imaging (MRI) findings. The syndrome, recessively inherited, associates brain degeneration with liver failure, and is now considered a mitochondrial disease. Enzyme activity deficiencies of the respiratory chain were identified in muscle mitochondria, as well as morphologic abnormalities of mitochondria in the explanted liver. Guidelines for diagnosis are presented, in order to differentiate the liver failure in AHS from that induced by genuine VPA toxicity. It is recommended to avoid liver Tx in patients with AHS given the fatal neurological course of the disease.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
3/120. Fatal deterioration of neurological disease after orthotopic liver transplantation for valproic acid-induced liver damage.We describe a 12-year-old girl with an early onset neurologic disease of slow progressiveness and electro-encephalography showing epileptic activity. The girl developed fulminant liver failure 5 months after the start of valproic acid treatment. Repeated mitochondrial assays failed to prove a mitochondrial disorder, but muscle biopsies were slightly pathological. Liver histology indicated acute-on-chronic liver disease. Six weeks after a successful orthotopic liver transplantation her neurological condition deteriorated rapidly, soon leading to generalized cortical disease and death. Post-mortem brain examination showed advanced central nervous destruction. We suggest that this is a late-onset Huttenlocher variant of Alpers' syndrome, where fulminant liver failure can be triggered by valproic acid, and orthotopic liver transplantation can subsequently trigger a fatal neurologic deterioration. Our case illustrates that when a referral center receives a previously unknown patient with hepatocellular insufficiency, it might be impossible to differentiate between fulminant vs. acute-on-chronic liver failure, and the decision whether to perform a liver transplantation or not would become difficult.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
4/120. Fulminant course in a case of diffuse myelinoclastic encephalitis-- a case report.We report on a 10-year old previously healthy boy who exhibited a fulminant and nearly monophasic clinical course of demyelinating encephalitis with relapsing intracranial hypertension syndrome. Histologic examination of a diagnostic brain biopsy revealed an inflammatory demyelinating process with perivascular T lymphocytic infiltration and axonal damage reminiscent of multiple sclerosis-like lesions. In the brain, the dna of human Herpes virus 6 (HHV6) was detectable. Eleven months after the initial symptoms and on maintainance with oral steroids, MRI showed demyelination of both hemispheres as well as demyelination of the brain stem and wallerian degeneration. The boy exhibited a severe neurologic defect syndrome. The clinical and radiological course is unusual because of the asymmetric progression of the encephalitis and the extensive confluent lesions without demarcated border or enhancement of the rim after injection of gadolinium. The clinical course showed no definite steroid response. The pathogenetic relevance of HHV6 remains elusive. Although single patients with HHV6-associated encephalomyelitis have been reported, HHV6 dna is occasionally detected in brains of healthy individuals.- - - - - - - - - - ranking = 4keywords = brain (Clic here for more details about this article) |
5/120. An autopsy case of classical Pelizaeus-Merzbacher's disease.A girl aged 8 years and 10 months at death had shown signs of a slowly progressive neurological disease with onset in early infancy. The main clinical features were nystagmus, spastic paraplegia, amd mental deterioration. Pathological examination of the brain showed severe demyelination with perivascular preservation of mylein islands, presenting a tigroid pattern. The patient is the second case of classical Pelizaeus-Merzbacher's disease in japan proven by autopsy.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
6/120. Butterfly lesion of the corpus callosum due to Schilder's disease.A 50 year old woman developed memory impairment and confusion over a 2 week period. CT scans of the brain showed a 'butterfly lesion' of the corpus callosum extending into the frontal lobes bilaterally. Stereotactic biopsy determined the lesion to be du e to demyelination. Further diagnostic investigations and the subsequent clinical course support the diagnosis of Schilder's disease.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
7/120. Rasmussen's syndrome associated with chronic brain stem encephalitis.We report a 3-year-old boy with a clinical picture of Rasmussen's encephalitis who had clinical, radiological and pathological evidence of brain stem involvement resulting in death. In addition, there were unexpected neuropathological findings of severe bilateral mesial temporal sclerosis. We discuss the novel finding of brain stem involvement in this condition and the association with mesial temporal sclerosis.- - - - - - - - - - ranking = 6keywords = brain (Clic here for more details about this article) |
8/120. Large demyelinating brain lesion mimicking a herniating tumor.We describe the case of a large brain lesion whose computed tomography appearance and clinical evolution mimicked a herniating tumor. The patient progressed to coma within 6 days of hospitalization despite high-dose steroid treatment. Emergency excision of the lesion was carried out. Histological analysis showed massive demyelination, axon preservation and no tumor cells. No lesion recurrence was seen during a 55-month follow-up. Recognition of such lesions through magnetic resonance imaging or spectroscopy may spare unnecessary surgery or biopsy. However, our case shows that such lesions may still require resection in the face of a rapid clinical progression and poor response to medical treatment.- - - - - - - - - - ranking = 5keywords = brain (Clic here for more details about this article) |
9/120. Characteristics of breathing abnormality in Leigh and its overlap syndromes.In this report we describe the respiratory patterns of six patients with Leigh syndrome, including two individual cases with accompanying clinical phenotypes of Alpers disease and mitochondrial encephalopathy with ragged red fibers. In five cases where sleep apnea was monitored, each one showed isolated or post-sigh central apnea, hiccup, apneusis-like breathing and obstructive apnea in various combinations. The remaining patient with Alpers/Leigh overlap syndrome showed an apneusis-like pattern of dyspnea. The sleep structure was examined in three patients.Two patients with brainstem lesions showed a decrease in the deep sleep stages and an absence of REM sleep. Medullary lesions were found in four patients by magnetic resonance imaging or at autopsy and involved predominantly the dorsal respiratory group (DRG) of medullary neurons. The role of DRG lesions in the pathophysiology of respiratory symptoms in Leigh syndrome is discussed.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
10/120. Detection of acute cytotoxic changes in progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome) using diffusion-weighted MRI and MR spectroscopy.Alpers-Huttenlocher syndrome (AHS) is a rare mitochondrial disorder of childhood onset that is characterized by progressive encephalopathy and hepatopathy. MRI studies are rare and have not added substantial information to the pathogenesis of the encephalopathy. diffusion-weighted MRI (DWI) and MR spectroscopy (MRS) were used in a patient with AHS during acute clinical deterioration and after improvement. DWI detected signal hyperintensity in several brain areas not restricted to any vascular territory. MRS revealed an unequivocal lactate peak and a reduced N-acetyl-aspartate-creatinine (NAA/Crea) ratio. DWI signal hyperintensity was correlated with neurologic symptoms and decreased after clinical improvement. Potentially reversible neuronal cytotoxic edema resulting from acute impairment of mitochondrial function is strongly suggested to be an important pathogenetic mechanism in AHS encephalopathy.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
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