1/53. Clinical, pathologic, and neurochemical studies of an unusual case of neuronal storage disease with lamellar cytoplasmic inclusions: a new genetic disorder?A child of first-cousin Puerto Rican parents had global developmental delay, failure to thrive, and hypotonia since early infancy. At 1 1/2 years of age, she developed clinical and electrophysiologic evidence of progressive motor and sensory neuropathy. At 2 1/2 years, she developed visual impairment and optic atrophy followed by gradual involvement of the 7th, 9th, 10th, and 12th cranial nerves. Uncontrollable myoclonic seizures began at 4 years and she died at 6 years of age. Motor nerve conduction velocities were initially normal and later became markedly slowed. Sensory distal latency responses were absent. Lysosomal enzyme activities in leukocytes and fibroblasts were normal. sural nerve and two muscle biopsies showed only nondiagnostic abnormalities. Electron microscopy of lymphocytes, skin, and fibroblasts showed cytoplasmic inclusions. light microscopy of frontal cortex biopsy showed neuronal storage material staining positively with Luxol fast blue, and electron microscopy showed cytoplasmic membranous bodies in neurons, suggesting an accumulation of a ganglioside. At autopsy, all organs were small but otherwise normal and without abnormal storage cells in the liver, spleen, or bone marrow. Anterior spinal nerve roots showed loss of large myelinated axons. The brain was small and atrophic; cortical neurons showed widespread accumulation of storage material, most marked in the pyramidal cell layer of the hippocampus. Subcortical white matter was gliotic with loss of axons and myelin sheaths. In cortical gray matter there was a 35% elevation of total gangliosides, with a 16-fold increase in GM3, a three- to four-fold increase in GM2 gangliosides, and a 15-fold elevation of lactosyl ceramide. GM3 sialidase activity was normal in gray matter at 3.1 nmols/mg protein per hour and lactosyl ceraminidase I and II activities were 70% to 80% of normal. In white matter, total myelin was reduced by 50% but its composition was normal. Phospholipid distribution and sphingomyelin content were normal in gray matter, white matter, and in the liver. These biochemical findings were interpreted as nonspecific abnormalities. The nature of the neuronal storage substance remains to be determined.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
2/53. 18Fluoro-2-deoxyglucose (18FDG) PET scan of the brain in type IV 3-methylglutaconic aciduria: clinical and MRI correlations.The clinical, 18fluorodeoxyglucose positron emission tomography (18FDG PET) and the magnetic resonance imaging (MRI) brain scan characteristics of four patients diagnosed to have 3-methylglutaconic aciduria were reviewed retrospectively. The disease has a characteristic clinical pattern. The initial presentations were developmental delay, hypotonia, and severe failure to thrive. Later, progressive encephalopathy with rigidity and quadriparesis were observed, followed by severe dystonia and choreoathetosis. Finally, the patients became severely demented and bedridden. The 18FDG PET scans showed progressive disease, explaining the neurological status. It could be classified into three stages. Stage I: absent 18FDG uptake in the heads of the caudate, mild decreased thalamic and cerebellar metabolism. Stage II: absent uptake in the anterior half and posterior quarter of the putamina, mild-moderate decreased uptake in the cerebral cortex more prominently in the parieto-temporal lobes. Progressive decreased thalamic and cerebellar uptake. Stage III: absent uptake in the putamina and severe decreased cortical uptake consistent with brain atrophy and further decrease uptake in the cerebellum. The presence of both structural and functional changes in the brain, demonstrated by the combined use of MRI and 18FDG PET scan, with good clinical correlation, make the two techniques complementary in the imaging evaluation of 3-methylglutaconic aciduria.- - - - - - - - - - ranking = 7keywords = brain (Clic here for more details about this article) |
3/53. optic atrophy and chronic acquired polyneuropathy.Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronic, multifocal disorder usually defined as limited to the peripheral nervous system. Multifocal motor neuropathy, an acquired demyelinating neuropathy with conduction block affecting motor neurons only, may be a pathogenically distinct syndrome or a predominantly motor variant of chronic inflammatory demyelinating polyneuropathy. central nervous system demyelination including optic neuropathy has been reported uncommonly previously in these entities. We report two cases and review the literature on the possible association of optic neuropathy and chronic acquired polyneuropathy.- - - - - - - - - - ranking = 3.0322024303867keywords = nervous system (Clic here for more details about this article) |
4/53. optic atrophy following prophylactic chemotherapy and cranial radiation for acute lymphocytic leukemia.Two patients with acute lymphocytic leukemia developed progressive optic nerve and chiasmal lesions eight to nine months after the initiation of identical chemotherapy protocols that included intrathecal medication and prophylactic radiation of only 2,400 rads to the central nervous system. Both patients eventually lost all vision despite additional radiotherapy, and there was no evidence of leukemia involving the central nervous system after acute lymphocytic leukemia was diagnosed. optic nerve biopsy in one case showed changes consistent with radiation necrosis.- - - - - - - - - - ranking = 11.732951284keywords = central nervous system, nervous system (Clic here for more details about this article) |
5/53. Optic glioma with characteristic bilateral optic atrophy in a 3-year-old girl.We report a case of optic glioma with bilateral optic atrophy. A 3-year-old girl presented with vomiting and left hemiparesis. She had hypothalamic dysfunction, right ptosis, right monocular nystagmus, left facial palsy, left hemiparesis, and left pes adductus. neuroimaging studies showed obstructive hydrocephalus with a large suprasellar calcified tumor with a ring-like enhancement mimicking craniopharyngioma. Visual-evoked potentials showed delayed latency of N75 in the right occipital lead. The tumor, a pilocytic astrocytoma in the right optic tract and chiasma, was partially removed via a right frontotemporal craniotomy. The right optic nerve had shrunk to half the normal diameter and became twisted downwardly. intracranial pressure (ICP) increased to 40 cm H2O. The fundus had bilateral optic atrophy without disc swelling. To our knowledge, this is the first report of a lamina/dot sign of the optic disc in a small child with a brain tumor and a normal neuroretinal fiber layer. These ocular findings may result from possible interruption of the axonal flow caused by the tumor and not increased ICP.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
6/53. Bilateral optic atrophy following diabetic ketoacidosis.diabetic ketoacidosis (DKA) can result in neuropathic abnormalities of the somatic and the autonomous nervous systems. We report the case of a 50-year-old man with Type 1 diabetes of 20-year duration who after severe DKA lost vision in his right eye and only retain partial vision in his left. This case demonstrates that optic neural tissue is vulnerable to haemodynamic and metabolic complications of DKA.- - - - - - - - - - ranking = 1.5161012151933keywords = nervous system (Clic here for more details about this article) |
7/53. Ocular histopathologic study of a patient with the T 8993-G point mutation in Leigh's syndrome.OBJECTIVE: To report the histopathologic findings of eyes from a patient with Leigh's syndrome associated with the T 8993-G point mutation in mitochondrial dna (mtDNA). DESIGN: Case report. INTERVENTION: A child with hypotonia, developmental delay, persistent lactic acidosis, seizures, and ataxia died of aspiration pneumonia at 15 months of age. Analysis of dna isolated from blood was positive for the T to G point mutation at position 8993 in mtDNA, and the proportion of mutant genomes was estimated at approximately 95%. The type and distribution of abnormalities seen in the brain at autopsy were consistent with those in patients with Leigh's syndrome. MAIN OUTCOME MEASURES: The left eye was examined by light microscopy, and segments of the right eye were examined by transmission electron microscopy. Genetic analysis on dna isolated from blood was performed. RESULTS: Thinning of the nerve fiber and ganglion cell layers was present in the nasal aspect of the macula, and mild atrophy of the temporal aspect of the optic nerve head and optic nerve was present. Electron microscopic study disclosed numerous distended mitochondria in all cells, but particularly in the retinal pigment epithelium, nonpigmented ciliary epithelium, and corneal endothelium. CONCLUSION: This is a report of the ocular histopathologic findings in Leigh's syndrome with the T 8993-G point mutation. The light microscopic findings were similar to those of patients with similar features reported previously. In addition, ultrastructural abnormalities of mitochondria were present.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
8/53. Complicated hereditary spastic paraplegia with peripheral neuropathy, optic atrophy and mental retardation.An 8-year old girl with a not previously described type of complicated hereditary spastic paraplegia (HSP) is presented. Spasticity in her lower limbs had already been recognized during infancy and worsened progressively. Severe delay in mental development was observed. Peripheral neuropathy and optic atrophy developed at 5 years of age. On brain magnetic resonance imaging, an abnormally thin corpus callosum was observed. Involvement of the fasciculus gracilis was suggested by somatosensory evoked potentials. To our knowledge, there has been no reported case of complicated HSP with peripheral neuropathy, optic atrophy and mental retardation so far. We postulate that our patient is a sporadic case of not previously described complicated HSP.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
9/53. Scleroderma, stroke, optic neuropathy: a rare association.A known case of scleroderma presented with right hemiparesis, focal seizures, optic atrophy and gangrene of digits. There was no evidence of peripheral nerve or muscle involvement. MRI showed multifocal infarcts in both cerebral hemispheres. MR angiography revealed poor flow in bilateral carotid arteries with collateralization from posterior circulation. She improved with phenytoin, nifedipine, antibiotics and immunosuppressants. The rarity of central nervous system affliction in scleroderma and large vessel vasculitis is discussed along with review of literature.- - - - - - - - - - ranking = 5.8664756420002keywords = central nervous system, nervous system (Clic here for more details about this article) |
10/53. Delleman (oculocerebrocutaneous) syndrome: few variations in a classical case.Delleman syndrome involves a group of congenital abnormalities affecting the eye, skin and central nervous system. It is a rare and sporadic disorder. We report on a 4-year-old male child who presented to us with oculocerebrocutaneous syndrome featuring: focal alopecia on the left side of the scalp, left periorbital skin appendages, a left-sided orbital dermoid, a large left-sided intracranial cyst,optic atrophy. About 35 such cases have been reported in the literature so far. To our knowledge optic atrophy associated with oculocerebrocutaneous syndrome has not been reported previously. Our patient had only a single seizure and his IQ was normal.- - - - - - - - - - ranking = 5.8664756420002keywords = central nervous system, nervous system (Clic here for more details about this article) |
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