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)

From June. 1987 to Dec. 1988, data was collected from 12 cases with Congenital Brain Anomalies. The cases involved 7 girls and 5 boys with ages ranging from 2 days to 15 years old. Abnormalities diagnosed were Cavum-septi pellucidi; Cavum vergae; Cystic dilated cavum; Cavum veli interpositi; Lissencephaly with dysgenesis of the corpus callosum; Dysgenesis of the corpus callosum associated the midline dorsal cyst; Holoprosencephaly, alobar type; Schizencephaly associated with Hydranencephaly; Encephaloclastic porencephaly; Severe hydrocephalus; Variant type of Dandy-Walker cyst with dysgenesis of the corpus callosum; Arnold-Chiari malformation. The patients were initially seen OPD primarily for seizures and other complaints such as nystagmus with visual impairment, hypotonia, facial anomalies, Yolk-sac tumor, prematurity, dyspnea and hydrocephalus. Among these, Holoprosencephaly was easiest to diagnose because it was combined with facial anomalies. However the others required evaluation by CT. CT offers very efficient diagnostic modality which is better than a Cranial Echo. It is also safer than the invasive angiography and not as expensive as MRI.
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PMID:[Congenital anomalies of the brain in computed tomography]. 276 27

Neuronal migration disorders of the cerebral cortex form a heterogeneous group of abnormalities, characterised by mental retardation, epilepsy and hypotonia. They are prevalent in 1% of the population and in 20-40% of the untreatable forms of epilepsy. Disorders at the start of the migration result in nodular heterotopias. Bilateral periventricular nodular heterotopias are X-linked disorders, in which cortical neurons are unable to leave their position at the ventricular surface due to the absence of filamin 1. The large group of lissencephalies can be divided into a number of syndromes, each of which is characterised by a gene mutation (LIS1, DCX, RELN). These mutations result in agyria and pachygyria, which are characteristic for this group. A number of these abnormalities, especially the smaller nodular heterotopias and focal cortical dysplasia, may be treated by neurosurgical excision.
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PMID:[Development and developmental disorders of the human brain. III. Neuronal migration disorders of the cerebrum]. 1126 8