Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors report the evolution since birth of a third patient belonging to a sibship affected by the infantile form of Hallervorden-Spatz disease. The diagnosis has been histologically proven in each case. Due to a lack of full clinical reports in the available literature, the emphasis has mainly been placed on the complex extrapyramidal syndrome characteristic of this disorder and illustrated by our own cases. We stree here the occurrence of extrapyramidal fits with exceptionally severe hemiballic movements and torsion spasms. Moreover the clinical signs and their succession in time are strikingly similar in our three patients. Our main purpose is to document accurately the early stages of this disorder; they are characterized by a non-specific spastic diplegia associated with mental retardation. There is a progressive but incomplete improvement during the following years. Thereafter the extrapyramidal syndrome appears. It is to early to decide whether all the infantile cases of Hallervorden-Spatz disease do indeed present a diphasic evoluation because our third patient is the only one to have been followed up since birth; relevant data are scarcely available in the other reported cases. On the other hand, it is correct to state that a spastic diplegia with mental retardation under the age of two--provided a perinatal anoxic excephalopathy has been ruled out--can lead to a wide range of conditions from normality to a neurological disorder as severe as the one reported here.
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PMID:[Infantile form of Hallervorden-Spatz disease (author's transl)]. 122 May 21

We report on a 4 generation family of individuals with an X-linked form of mental retardation involving 9 affected males and 5 obligate carrier females. Key manifestations include severe mental retardation, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with cerebellar hypoplasia (Dandy-Walker malformation), and iron accumulation in the basal ganglia with neuroaxonal dystrophy similar to Hallervorden-Spatz disease. Of the 5 known heterozygotes, 3 are dull intellectually, and one of the 3 developed a "presenile dementia." At autopsy she had iron deposition and neuroaxonal dystrophy in the basal ganglia and atrophy of the cerebral cortex. Although the clinical findings among relatives are variable, we conclude that this is a distinct, previously unrecognized X-linked mental retardation syndrome.
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PMID:New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures. 201 58

Hallervorden-Spatz disease is a rare, autosomal-recessive hereditary condition characterized by early onset of progressive movement alterations such as dystonia, rigidity, and choreoathetosis, which is usually associated with pyramidal signs and mental deterioration. The authors report two cases for which diagnosis of Hallervorden-Spatz disease was based on clinical manifestations that appeared during the first year of life, illness progression, and late-stage magnetic resonance imaging findings. The possibility that these two cases, along with other previously described rare instances with similar clinical features, be considered as a variant of subtype of the early-onset type of Hallervorden-Spatz disease is suggested. The need to differentiate these cases from cases of static encephalopathy with mental retardation and motor impairment is also stressed.
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PMID:Hallervorden-Spatz disease: two new early childhood onset cases. 1064 7

Panthothenate kinase-associated neurodegeneration (PKAN) (Hallervorden-Spatz disease) is a rare autosomal recessive chromosomal disorder characterised by progressive neuroaxonal dystrophy. The characteristic features include involuntary movements, rigidity, mental retardation, seizures, emaciation. The anaesthetic concerns include difficult airway, aspiration pneumonia, dehydration, and post-operative respiratory, and renal insufficiency. We report successful anaesthetic management of a 9-year-old intellectually disabled male child with PKAN, scheduled for ophthalmic surgery under general anaesthesia.
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PMID:Anaesthetic management of a child with panthothenate kinase-associated neurodegeneration. 2568 13

Pantothenate kinase-associated neurodegenerative diseases is a type of neurodegeneration with brain iron accumulation characterized by excessive iron deposition in specific parts of the brain. The phenotypic spectrum includes classic and atypical PKAN. The clinical presentation may range from speech disorder to severe dystonia, dysphagia, mental retardation and retinal degeneration. It is an autosomal recessive disorder characterized by a variant in the PANK2 gene, pathogenesis involves mitochondrial dysfunction, oxidative stress damage, lipid metabolism disorders and autophagy disorders. This review summarizes the clinical presentation, molecular pathogenesis, imaging modalities and genetics.
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PMID:[Clinical characteristics and molecular pathogenesis of pantothenate kinase-associated neurodegenerative disease]. 3070 42