Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Vitamin E malabsorption and deficiency during chronic childhood cholestasis has been associated with a progressive ataxic neurologic syndrome. Hyporeflexia, the first sign of neurologic dysfunction, may begin prior to age 2 years, but severe symptoms do not develop until age 5 to 10 years. To establish the age of onset of neuropathologic lesions, we prospectively evaluated four young children with severe cholestasis. Malabsorption and deficiency of vitamin E were documented by low serum vitamin E concentrations, low serum vitamin E to total serum lipids ratios, elevated hydrogen peroxide hemolysis, and impaired absorption of a pharmacologic dose of alpha-tocopherol. Abnormal neurologic findings in two patients were limited to areflexia, ptosis, mild truncal ataxia, and hypotonia; two patients had minimal signs of neurologic dysfunction. Sural nerve histology at age 6 to 25 months revealed a degenerative axonopathy involving large-caliber myelinated fibers, but without quantitative axonal loss. Muscle histology and histochemistry tests yielded normal results. Our study suggests that neurologic injury may occur during the first two years of life in vitamin E-deficient children with cholestatic hepatobiliary disease, obligating aggressive attempts at correcting this deficiency state at a very young age.
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PMID:Vitamin E deficiency during chronic childhood cholestasis: presence of sural nerve lesion prior to 2 1/2 years of age. 630 96

Acute-phase and convalescent-phase sera of 66 children, aged 3 months to 12 years, with neurologic disorders of unknown etiology were tested against Legionella pneumophila polyvalent and monovalent antigens (groups 1 to 4). Three significant antibody titer increases were obtained, all in children with acute cerebellar ataxia. This neurologic syndrome was characterized by sudden onset of muscle hypotonia and inability to sit or walk, with no other specific neurologic or systemic symptoms. Persisting pharyngitis always preceded ataxia. Fever of short duration was still present. Gastrointestinal disturbance occurred in two of the three children. Abnormal laboratory findings were, not always simultaneously, high ESR and leukocytosis with lymphocytosis. CSF levels and electromyographic findings were normal in two of the children. Two children received oral betamethasone. Recovery was complete within seven to ten days without antibiotic treatment. These studies indicate the possible etiologic role of L pneumophila in acute cerebellar ataxia.
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PMID:Acute cerebellar ataxia in pediatric legionellosis. 664 29

A case of a medial and caudal infarction of the midbrain in a 56 years old woman is reported. The clinical syndrome included a rapidly recovering sleepiness, an ophthalmoplegia related to damage to the caudal part of the oculomotor nuclear complex, a slow extrapyramidal dysarthria and a severe ataxia. The latter was characterized by the prevalent involvement of posture control, resulting from an axial hypotonia and the lack of balance reflexes. The CT scan showed a low density area in the central part of the midbrain. Electrophysiological investigations were carried out to study the impairment of the sensory and auditory tracts in the brainstem. In spite of the gravity of initial signs, recovery was good and the patient led a normal life 8 months later.
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PMID:[Regressing median peduncular infarction]. 669 25

The clinical symptoms of cerebellar dysfunction are reviewed in relation to modern concepts of cerebellar physiology. Special attention is given to their topodiagnostical significance. Hypotonia, hyporeflexia, asthenia, delayed onset and offset as well as slowing of voluntary movement, ataxia, dysmetria, tremor and myoclonus result from damage of the lateral cerebellar hemispheres and the dentate nucleus. Three different key patterns of postural ataxia result from lesions of the anterior lobe, the vermal part of the vestibular cerebellum and dysfunction of cerebellar afferences respectively. The long latency response (M3) is significantly prolonged in patients with anterior lobe atrophy. Oculomotor symptoms mainly result from either lesions of the cerebellar flocculus, causing dysfunction of retinal-image stabilization or from damage to the dorsal vermis (VI and VII) and the fastigial nuclei, resulting in saccadic dysmetria.
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PMID:Clinical symptoms of cerebellar dysfunction and their topodiagnostical significance. 671 11

Two patients presented in early childhood with (i) alopecia, skin rashs, and dermatitis, (ii) severe hypotonia, ataxia and motor retardation, (iii) frequent episodes of ketoacidosis with hyperlactacidemia. Propionic and methylcrotonic aciduria only appeared on high protein diet. Mitochondrial biotin-dependent carboxylase activities were decreased in the liver and leukocytes, but were similar to control values in fibroblasts cultured in a biotin-free medium. In addition, the plasma biotin was found to be significantly lower than in control subjects. These disorders responded to biotin administration, pointing to biotin-dependent multiple carboxylase deficiencies (MCD). Our report stresses the polymorphism of MCD and suggests that MCD could be of two types: impaired vitamin metabolism (absorption, plasma transport), might result in low plasma biotin with generalized MCD involving acetyl CoA carboxylase. Defective mitochondrial holocarboxylase synthetase might lead to a pure mitochondrial MCD, with fibroblastic deficiency and presumably normal biotin metabolism.
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PMID:Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosis. 719 43

The authors investigated the cerebellar function of patients with chronic implanted electrodes. The investigations were carried out using elicited compulsion events--evoked potentials and motor reactions--in different functional motor states, i.e., rest and contraction. The compulsion events are the result of motor control processes which eliminate the transient effect of stimuli. In connection with the cerebellum, these motor control processes in some ways mirror the function of the cerebellum. The evoked potentials recorded in the cerebellum have specific features and specific functional dependence as well. On stimulation of the cerebellum, the first effect on motor activity is always inhibitory. Altering the cerebellar function by high frequency stimulation appears to cause cerebellar symptoms such as hypotonia and ataxia.
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PMID:The function of the human cerebellum studied by evoked potentials and motor reactions. 746 4

We report on a 13-year-old girl with late infantile neuronal ceroid lipofuscinosis (NCL) in whom PET scanning with [18F]-2-fluoro-2-deoxy-D-glucose ([18F]/FDG) was performed. Early psychomotor development was normal. At the age of 2 years, neurological signs such as hypotonia and incoordination appeared, followed by visual failure and ataxia. At the age of 4, funduscopic examination showed macular degeneration and papillary atrophy. At the age of 9, myoclonic jerks were observed; subsequently, generalized seizures together with failing vision, mental deterioration, and visual and auditory hallucinations appeared. Brain MRI showed severe cortical and subcortical atrophy. A skin biopsy detected the presence of 'finger-print' inclusions in the cytoplasm of smooth muscle fibers. Late infantile NCL (Jansky-Bielschowsky disease) was diagnosed. FDG/PET revealed a severe reduction of metabolism in all the cortical and subcortical structures. A regional analysis of the distribution of the tracer revealed marked bilateral hypometabolism, particularly in calcarine, lateral, occipital, and temporal cortices and in the thalamus.
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PMID:Positron emission tomography in neuronal ceroid lipofuscinosis (Jansky-Bielschowsky disease): a case report. 757 68

A syndrome is reported of congenital non-progressive, gradually slightly improving, ataxia in 3 out of 5 male sibs, issues of a first-order consanguineous mating. Additional characteristic features included: moderate microcephaly, generalised muscle weakness and hypotonia, nystagmus, and moderate mental retardation. A pyramidal syndrome of hyperreflexia and Babinski signs, without any spasticity, became manifest in the 2nd or 3rd year of life. In all three, the caudal part of the vermis was absent, the enlarged IVth ventricle opening up via Magendie's foramen into the cisterna magna. The middle and rostral vermian parts as well as the sagittal paravermian parts of the cerebellar hemispheres were hypoplastic. The differential diagnosis of this syndrome is analysed and the developmental pathogenetic mechanisms likely to produce the typifying distribution of aplasia are indicated.
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PMID:Non-progressive familial congenital cerebellar hypoplasia. 772 36

Primary degeneration of the granular layer of the cerebellum is an autosomal recessive disorder exhibiting characteristic clinical features: hypotonia, strabismus, delayed motor development, nonprogressive ataxia, delayed language development with dysarthria and mental retardation. We studied fourteen children, seven of each gender. Neuroimaging tests including pneumoencephalography, computed tomography (CT) and magnetic resonance imaging (MRI) showed severe cerebellar atrophy in all. MRI best demonstrated the cerebellar lesion, revealing great uniformity amongst the cases. Vertebrobasilar angiography was performed in two cases and showed marked hypoplasia of the cerebellar arteries, predominantly the posterior inferior cerebellar artery (PICA) and its branches. Necropsy was performed in three cases; cerebellar atrophy with loss of granular cells and diverse abnormalities of the Purkinje cells was found in two. The third, the sister of one of the other two cases, had a similar but shorter clinical course and died at three months of age. Her sister, who died at 5 years of age, presented a severe cerebellar atrophy with typical changes in the granular cell layer and Purkinje cells. In the third patient, who lived three months, only focal cerebellar folial atrophy with no microscopic changes in the granular cell layers was present. Though this case cannot objectively be included in the cerebellar atrophy syndrome with granular cell loss, her family history and clinical picture suggest the same disease. The findings observed in our series and the study of cases described in the literature, suggest that there are several forms of this disease which differ mainly in severity and neurological evolution. The cerebellar lesion seems to be a progressive atrophic process with the most severe changes during the early years of life.
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PMID:Primary degeneration of the granular layer of the cerebellum. A study of 14 patients and review of the literature. 782 90

We describe two brothers and a cousin with common clinical features, including mild mental retardation, motor delays, hypotonia with truncal ataxia, esotropia, and mild facial and hand dysmorphia. The initial routine chromosome study failed to detect any abnormality in the proband. Based on a high index of clinical suspicion, high-resolution chromosome studies were performed on the proband's parents. A small reciprocal translocation t(10;14) (q26.1;q32.3) was detected in the father. The breakpoint on the derivative chromosome 14 was further placed telomeric to the immunoglobulin heavy-chain gene cluster at the band q32.33 by fluorescence in situ hybridization. Studies of the proband and two affected paternal cousins revealed that each had inherited the same derivative chromosome 10 from their carrier parents. This unbalanced karyotype resulted from an adjacent-1 segregation of the 10;14 translocation.
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PMID:Familial translocation t(10;14) (q26.1;q32.3): report of three offspring with 10q deletion and 14q duplication. 783 95


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