1/109. ataxia, ocular telangiectasia, chromosome instability, and Langerhans cell histiocytosis in a patient with an unknown breakage syndrome.An 8 year old boy who had Langerhans cell histiocytosis when he was 15 months old showed psychomotor regression from the age of 2 years. microcephaly, severe growth deficiency, and ocular telangiectasia were also evident. Magnetic nuclear resonance imaging showed cerebellar atrophy. Alphafetoprotein was increased. Chromosome instability after x irradiation and rearrangements involving chromosome 7 were found. Molecular study failed to show mutations involving the ataxia-telangiectasia gene. This patient has a clinical picture which is difficult to relate to a known breakage syndrome. Also, the relationship between the clinical phenotype and histiocytosis is unclear.- - - - - - - - - - ranking = 1keywords = ocular (Clic here for more details about this article) |
2/109. Increased density of oligodendrocytes in childhood ataxia with diffuse central hypomyelination (CACH) syndrome: neuropathological and biochemical study of two cases.We report neuropathological, biochemical and molecular studies on two patients with childhood ataxia with diffuse central nervous system hypomyelination (CACH) syndrome, a leukodystrophy recently defined according to clinical and radiological criteria. Both had severe cavitating orthochromatic leukodystrophy without atrophy, predominating in hemispheric white matter, whereas U-fibers, internal capsule, corpus callosum, anterior commissure and cerebellar white matter were relatively spared. The severity of white matter lesions contrasted with the rarity of myelin breakdown products and astroglial and microglial reactions. In the white matter, there was an increase in a homogeneous cell population with the morphological features of oligodendrocytes, in many instances presenting an abundant cytoplasm like myelination glia. These cells were negative for glial fibrillary acidic protein and antibodies PGM1 and MIB1. Some were positive for myelin basic protein, proteolipid protein (PLP), and myelin oligodendrocyte glycoprotein, but the majority were positive for human 2'-3' cyclic nucleotide 3' phosphodiesterase and all were positive for carbonic anhydrase ii, confirming that they are oligodendrocytes. Myelin protein and lipid content were reduced. The PLP gene, analyzed in one case, was not mutated or duplicated. The increased number of oligodendrocytes without mitotic activity suggests an intrinsic oligodendroglial defect or an abnormal interaction with axons or other glial cells. This neuropathological study supports the notion that CACH syndrome constitutes a specific entity.- - - - - - - - - - ranking = 0.12986370930273keywords = dystrophy (Clic here for more details about this article) |
3/109. IgG anti-GQ1b positive acute ataxia without ophthalmoplegia.IgG anti-GQ1b antibody was present in a patient with acute ataxia and areflexia without ophthalmoplegia or elementary sensory loss. Sensory nerve conduction studies and somatosensory evoked potentials were normal, but postural body sway analysis showed dysfunction of the proprioceptive afferent system. The clinical presentation and laboratory results for this patient resemble those of miller fisher syndrome, except for the lack of ophthalmoplegia. This case may represent part of an IgG anti-GQ1b syndrome.- - - - - - - - - - ranking = 147.26791683426keywords = ophthalmoplegia (Clic here for more details about this article) |
4/109. A common cause of altered mental status occurring at an uncommon age.Wernicke's encephalopathy is a neurologic disorder due to a nutritional deficiency of thiamine, characterized by ocular palsies, ataxia, and altered mental activity. While Wernicke's encephalopathy is commonly attributed to alcoholism in the adult population, it has been described in children receiving prolonged parenteral nutrition and those with malignancies and AIDS. The disease, however, is rarely diagnosed in the pediatric population during life. We report a case of Wernicke's encephalopathy in a child with prolonged starvation and aim to improve awareness of a potentially fatal but treatable disease.- - - - - - - - - - ranking = 0.2keywords = ocular (Clic here for more details about this article) |
5/109. ataxia, deafness, leukodystrophy: inherited disorder of the white matter in three related patients.The authors report three related patients, two girls and a boy, presenting a distinctive clinical phenotype characterized by early-onset, slowly progressive ataxia. Subsequently these patients experienced sensorineural deafness, resulting in complete hearing loss by the age of 12 years, and exhibited leukodystrophy on brain MRI. There was no mental deterioration. An extensive neurometabolic assessment failed to detect any anomalies in the three patients. The patients originated from a large consanguineous family in southern italy (Calabria), with a pedigree that was traced back five generations. The disease's pattern of transmission suggests an autosomal recessive trait.- - - - - - - - - - ranking = 0.32465927325682keywords = dystrophy (Clic here for more details about this article) |
6/109. Features of sensory ataxic neuropathy associated with anti-GD1b IgM antibody.Some reports have called sensory ataxic neuropathy (SAN) associated with IgM antibody against b-series gangliosides a chronic form of miller fisher syndrome (MFS), but this has yet to be established. We examined five patients with SAN and eight patients with IgG anti-GQ1b-positive MFS. Only one patient with SAN complained of diplopia, whose ocular movement was not limited. The other four patients had neither diplopia nor limitation of ocular movement. All the SAN patients had severe deep sense impairment, whereas one patient with MFS showed only mild vibratory sense impairment. All sera from the SAN patients had remarkably high IgM antibody titers to the b-series gangliosides GD3, GD2, GD1b, GT1b, GQ1b, GQ1b alpha, fucosyl-GD1b, and alpha galactosyl [alpha fucosyl] GD1b. An absorption study confirmed that the anti-GQ1b antibodies cross-reacted with GD3, GD2, GD1b, and GT1b. In contrast, only two samples from the MFS patients had IgG antibody to GD3, and no sample reacted with GD2, GD1b, or GT1b. SAN has different clinical or serological features from MFS, and therefore is not a chronic form of it.- - - - - - - - - - ranking = 0.4keywords = ocular (Clic here for more details about this article) |
7/109. Mitochondrial myopathy presenting as ataxia with dilated cardiomyopathy.Mitochondrial disorders are multisystem diseases with very heterogeneous clinical manifestations. Common cardiac features include cardiomyopathy and conduction defects. We report a five-year-old boy who presented with signs of congestive cardiac failure and was diagnosed to have dilated cardiomyopathy. Six months later, he developed progressively worsening ataxia, hypotonia, other cerebellar signs, hearing loss, severe sensory peripheral neuropathy and lactic acidosis. Electronmicroscopy of skeletal muscle biopsy was consistent with mitochondrial myopathy.- - - - - - - - - - ranking = 0.54521248411572keywords = myopathy (Clic here for more details about this article) |
8/109. Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation.PURPOSE: To report a late-onset cone-rod dystrophy that revealed a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome as a consequence of the T8993G mitochondrial mutation. methods: Observational case series. A 42-year-old female disclosed a late-onset retinal dystrophy. The family history revealed that her three sons, one of them deceased at the age of 4, had mental and neurologic impairment of variable severity. The retinal dystrophy of the mother was classified as a cone-rod dystrophy. Retinal dystrophy was subsequently diagnosed in the two surviving sons. Screening for mutation in the mitochondrial dna (mtDNA) was performed because of the combination of neurologic involvement and retinal dystrophy in this family. RESULTS: Molecular analysis of the mtDNA revealed the ATPase-6 gene T8993G mutation in the mother and the two sons. CONCLUSION: This family illustrates the remarkably variable expression of retinal and systemic manifestations related to the T8993G mutation ranging from an isolated late-onset cone-rod dystrophy to a severe neurodegenerative process with a dramatic outcome. genetic counseling for retinal dystrophies requires careful evaluation of the familial medical history.- - - - - - - - - - ranking = 0.714250401165keywords = dystrophy (Clic here for more details about this article) |
9/109. Leptomeningeal signet-ring cell carcinomatosis presenting with ophthalmoplegia, areflexia and ataxia.We report a very rare case of occult leptomeningeal carcinomatosis (LC) in whom repeated cytological examination did not show malignant cells in cerebrospinal fluid (CSF) and the primary focus was not discovered by extensive survey. The patient presented with ophthalmoplegia, ataxia and areflexia mimicking miller fisher syndrome (MFS) at the initial stage, and later, the clinical profile and laboratory findings including CSF examination simulated tuberculous meningitis. Postmortem autopsy disclosed metastatic signet-ring cell carcinoma infiltrating into cranial nerves and leptomeninges. We would like to emphasize that LC sometimes shows symptoms and signs similar to MFS or tuberculous meningitis.- - - - - - - - - - ranking = 122.72326402855keywords = ophthalmoplegia (Clic here for more details about this article) |
10/109. Episodic coma in a new leukodystrophy.Among the leukodystrophies of a hypomyelinating nature, childhood ataxia with diffuse central nervous system hypomyelination exhibits the unique feature of rapid decrease in mental status after relatively minor head injuries or otherwise noncomplicated febrile illnesses. This article reports the case of a child with progressive spastic quadriparesis in whom unconsciousness developed repeatedly as a result of minor head trauma and required prolonged critical-care nursing. Although cognition is believed to be relatively preserved in this disorder, this child developed progressive cognitive decline. A detailed review of the literature is presented along with discussion of the potential mechanisms of neurologic deterioration.- - - - - - - - - - ranking = 0.25972741860546keywords = dystrophy (Clic here for more details about this article) |
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