1/132. Type 1 GM1 gangliosidosis with basal ganglia calcification: a case report.This report concerns a 10-month-old boy, admitted to the veterans General Hospital-Kaohsiung with generalized tonic convulsion and aspiration pneumonia. He was found to have had developmental regression, progressive hypotonia and hepatosplenomegaly since four months of age. physical examination revealed a large head circumference (97th percentile), frontal bossing, depressed nasal bridge, hepatosplenomegaly, broad hands and short fingers. neurologic examination showed poor control of eye movement, profound hypotonia, muscle weakness, brisk deep tendon reflexes and Babinski's sign. Hypoplasia of the vertebral bodies with anterior beaking, wedge-shaped metacarpals, spatulated ribs and a J-shaped sella turcica were displayed on bone radiographs. Cranial computerized tomography scans showed diffuse brain atrophy, dilated ventricles and calcification of the bilateral basal ganglia. Vacuolated lymphocytes were noted in a peripheral blood smear. Type 1 GM1 gangliosidosis was diagnosed based on a deficiency of beta-galactosidase activity. To our knowledge, basal ganglia calcification in type 1 GM1 gangliosidosis has never been reported in the literature. We suggest that type 1 GM1 gangliosidosis be considered in the differential diagnosis of patients with an early onset of neurologic decline, organomegaly and basal ganglia calcification.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
2/132. Non-typhoid salmonella meningitis complicated by a infarction of basal ganglia.A previously healthy 16-month-old Korean girl with symptoms of fever, vomiting, and generalized tonic seizure was diagnosed to have Group D non-typhoid salmonella meningitis. The patient was treated with ceftriaxone (100 mg/kg/day) and amikin (22.5 mg/kg/day) initially and ciprofloxacin (30 mg/kg/day) was added later because of clinical deterioration and disseminated intravascular coagulation. brain CT performed on the second day showed a well-demarcated low density lesion in the right lentiform nucleus and both caudate nuclei, without evidence of increased intracranial pressure. MRI performed on the 11th day confirmed CT scan findings as well as right subdural fluid collection, brain atrophy, and ventriculomegaly. She underwent subdural drainage and later ventriculo-peritoneal shunt operation. Despite receiving intensive treatment, she still has severe neurologic sequelae. Our case shows that infarctions of basal ganglia and thalami are not specific for tuberculous meningitis and that meningitis complicated by infarction is indicative of grave prognosis.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
3/132. Acute onset of chorea and dystonia following a febrile illness in a 1-year-old boy.A 12-month-old boy with acute onset hemichorea and dystonia following a gastroenteritis has abnormal signal intensities of his basal ganglia on brain magnetic resonance imaging (MRI). A rigorous laboratory investigation is successful in diagnosing his rare condition. A discussion of the differential of abnormal basal ganglia on MRI is presented to help illustrate this case.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
4/132. CT and MRI in severe hypophosphataemia with central nervous system involvement.We report a 38-year-old woman with extreme hypophosphataemia in whom CT and MRI disclosed bilateral lesions within the basal ganglia, thalamus and occipital lobes. After adequate substitution of phosphate the lesions grossly resolved and the patient recovered. This case is the first to demonstrate that profound changes of serum phosphate may be associated with reversible brain lesions.- - - - - - - - - - ranking = 4.0330287683872keywords = brain, central nervous system, nervous system (Clic here for more details about this article) |
5/132. Corticobasal ganglionic degeneration and/or frontotemporal dementia? A report of two overlap cases and review of literature.OBJECTIVE: According to the existing viewpoint, Corticobasal degeneration (CBD) is thought of as a predominantly extrapyramidal motor disorder that is distinct and unrelated to frontotemporal dementia (FTD), the most common form of non-Alzheimer dementias. A lack of understanding of the aetiopathogenesis, and poor correlation between the pathology and the clinical syndromes, has resulted in a disparity in the classification of cases of non-Alzheimer dementias. This report intends to highlight the overlap between FTD and CBD in the light of the evolution of these terms, and to discuss the implications of these findings on the nosology of CBD and the classification of non-Alzheimer dementias. methods AND RESULTS: Two cases who presented with cognitive dysfunction, which, on comprehensive neuropsychological testing warranted an antemortem diagnosis of FTD are reported. A detailed necropsy study of their brains, however, favoured a pathological diagnosis of CBD. The literature on the overlap between CBD and FTD is also reviewed. CONCLUSIONS: Firstly, evidence is emerging to suggest that the clear distinction drawn between FTD and CBD by the existing viewpoint, needs revision. Secondly, until such time that a comprehensive classification of non-Alzheimer dementias is evolved, it may be better to distinguish between the clinical and pathological levels of description and to classify cases, in vivo, on the basis of the clinical phenotype.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
6/132. Bilateral basal ganglia lucencies following acute febrile illness.Bilateral striatal necrosis in children without damage elsewhere in the brain can present as an acute neurological disorder or as a progressive disorder. Three children of 6, 7 and 12 years age developed dystonic posture of limbs without any cranial nerve involvement or alteration of sensorium soon after recovery from acute high grade febrile illness of 3-4 days duration. Computerized tomographic scan of head showed bilateral necrosis of basal ganglia. We think that these patients probably constitute a clinically and radiologically distinct subgroup of disorder that produce bilateral striatal necrosis in children. The cause of the syndrome is unknown.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
7/132. Bilateral basal ganglia-thalamic lesions subsequent to prolonged fetal bradycardia.We report two infants with bilateral basal ganglia-thalamic lesions subsequent to prolonged fetal bradycardia. Cardiotocogram revealed severe bradycardia lasting for more than 20 min in both. They demonstrated a significant encephalopathy, abnormal muscle tones and signs of brainstem injury. Clinical or electrical seizures were not observed in either of them. CT during early neonatal period demonstrated decreased tissue attenuation in basal ganglia and thalami in the absence of extensive cortical changes. Both of them developed severe mental retardation and quadriplegia. MRI in late infancy demonstrated abnormal high intensity areas in bilateral basal ganglia, thalami and around central sulci on T2-weighted image. Close correlation between prolonged fetal bradycardia and basal ganglia-thalamic lesion was suggested.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
8/132. Psychiatric symptoms as late onset of Wilson's disease: neuroradiological findings, clinical features and treatment.We describe a case of Wilson's disease with late psychiatric onset. Major depressive disorder was the first clinical manifestation at the age of 38 years. After pharmacotherapy with antidepressive agents, a manic episode was observed. Extrapyramidal hand tremor and micrography were the first neurological signs. Emotional lability occurred during worsening of extrapyramidal signs. diagnosis was based on urinary and serum copper levels, ceruloplasmin serum level, Kayser-Fleischer ring, and liver biopsy that detected cirrhosis. magnetic resonance imaging revealed basal ganglia hyperintensity on T1-weighted images, and hypodensity in the central part and hyperintensity in the peripheral part of the lentiform nucleus on T2-weighted images. Hyperintensity on T2-weighted images was also observed in the dorsal part of the midbrain. 123I-iodobenzamide single photon emission computed tomography (IBZM-SPECT) detected a normal distribution of the drug in the brain, with better signal in the right side and deficit of D2-dopaminergic receptors in the basal ganglia. Abnormal manganese erythrocyte level was observed. Treatment was based on penicillamine, zinc salts, low-copper diet, antidepressant agents, interpersonal psychotherapy and neurorehabilitation.- - - - - - - - - - ranking = 2keywords = brain (Clic here for more details about this article) |
9/132. 'face of the giant panda' sign in Wilson's disease: revisited.We report a patient, with Wilson's disease, who showed the characteristic radiological sign known as 'face of the giant panda sign' on magnetic resonance imaging (MRI) of the brain.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
10/132. adult polyglucosan body disease.We describe a case of adult polyglucosan body disease with characteristic clinical symptoms of peripheral neuropathy, upper motor neuron signs, and bowel and bladder dysfunction. sural nerve biopsy revealed diagnostic intra-axonal polyglucosan bodies. On electron microscopic examination, the inclusions were located mainly within myelinated nerve fibers and consisted of branched filaments that were 6 to 8 nm wide. The diagnosis of adult polyglucosan body disease was confirmed by a skin biopsy from the axilla showing similar inclusions in myoepithelial cells of apocrine glands. This report provides additional evidence that skin biopsy, to date advocated by a single case report only, may be a less invasive and simpler diagnostic alternative to sural nerve or brain biopsies.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
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