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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on two brothers with achalasia, adrenocortical insufficiency, alacrima, short stature, microcephaly, ataxia, optic atrophy, and developmental delay. The parents and three sibs are unaffected. Achalasia, adrenocortical insufficiency, and alacrima comprise a recently characterized familial multisystem disorder of unknown cause. Achalasia has also been described in association with microcephaly and mental retardation in one family and ataxia, optic atrophy, and mental retardation in another. The above reports and these sibs may represent variants of a single pleiotropic recessive gene. We suggest that abnormalities of the central nervous system are a manifestation of the achalasia, adrenocortical insufficiency, alacrima syndrome.
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PMID:Familial achalasia associated with adrenocortical insufficiency, alacrima, and neurological abnormalities. 356 79

An ophthalmic evaluation was undertaken in 250 consecutive cases of mental retardation where no specific etiological diagnosis could be established, ie, "idiopathic" mental retardation. Visual impairment was noted in 59 of these patients, and was mainly due to primary optic atrophy, besides cortical blindness, strabismus, nystagmoid eye movements, refractive errors and various associated congenital ocular anomalies. It was encouraging to find that 191 children had active vision, including 10 patients with definite disc pallor. The importance of useful vision in these retarded children cannot be overemphasized. This is probably the first report in the literature analyzing the ocular changes and their significance in a fairly large series of idiopathic mental retardation.
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PMID:The eye in idiopathic mental retardation. 358 8

We report here two cases in a family with pleomorphic clinical features which include mitochondrial myopathy, encephalopathy, stroke-like episodes, episodic disturbances of consciousness and other multisystemic abnormalities. The other signs observed in multisystemic abnormalities were ophthalmoplegia, short stature, diabetes mellitus, diabetes insipidus, renal dysfunction, optic atrophy, retinal degeneration, impairment of hearing and mental retardation or deterioration. A symptomatological variation was observed in cases in the same family. It is suggested that these widely varying symptoms may be expressions caused by a common biochemical defect which involves different tissues in different individuals in the family. The syndromes observed in the present cases were compared with other possibly-related mitochondrial encephalomyopathies.
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PMID:Familial mitochondrial encephalomyopathy with stroke-like episodes and episodic disturbances of consciousness: a study of pedigree including three generations with multisystemic abnormalities. 362 95

Of 99 children in the Royal Blind School, Edinburgh (which serves Scotland and part of N E England), 15 had optic atrophy (hydrocephalus 4, intracranial haemorrhage 2, prematurity 2, fetal distress 2, birth asphyxia 2, cerebral atrophy 1, cardiac arrest during hernia operation 1, and leukaemia 1). Fourteen had congenital cataract, 12 congenital retinal aplasia (Leber's congenital amaurosis) and 11 retinopathy of prematurity. There were small numbers in many other diagnostic categories, including three with non-accidental head injury. Mental retardation, spasticity, and nystagmus were frequent other correlates in all diagnostic categories. 'Very probably hereditary' was a conservative attribution in 36, while 'probable' seemed appropriate for 12-that is, almost 48% were hereditary. Only about 11 cases might have been prevented through genetic counselling, which testifies to the frequency of autosomal recessive hereditary disease, although no parents were consanguineous.
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PMID:Blindness in schoolchildren: importance of heredity, congenital cataract, and prematurity. 365 73

Two cases of a complex brain malformation including the absence of a septum pellucidum and bilateral porencephaly were reported and compared with Aicardi's cases. The two cases have congenital hemiplegia or double hemiplegia and mental retardation, and one of them has optic atrophy. CT scans revealed the absence of a septum pellucidum and a specific position and shape of the clefts. The syndrome of the absence of a septum pellucidum and porencephaly may represent a specific type of true porencephaly, and the cause must occur before 16 weeks of gestation.
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PMID:The syndrome of the absence of a septum pellucidum with porencephaly. 382 56

Systemic findings in a 23-year-old white man with mucolipidosis type IV included early delayed psychomotor development, mental retardation, and mild facial dysplasia. There was urinary excretion of chondroitin sulfate. Ophthalmologic examination showed corneal haze, pigmentary retinopathy, and severe optic atrophy. Light microscopy showed massively engorged superficial and intermediate epithelial cells of both the cornea and the conjunctiva. By transmission electron microscopy these contained fine granular material consistent with acid mucopolysaccharide and concentric lamellar bodies presumably representing phospholipids. This storage phenomenon was also found in macrophages, plasma cells, ciliary epithelial cells, Schwann cells, retinal ganglion cells, and vascular endothelial cells. Light microscopy also disclosed early cataract formation, marked outer retinal degeneration, and optic atrophy.
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PMID:Ocular abnormalities in mucolipidosis IV. 391 53

A rare congenital nasal deformity due to warfarin embryopathy is reported. The commonest anomalies described in this syndrome are: hypoplasia of the nose, stippling of bone, optic atrophy and mental retardation. The various abnormalities and the mechanism of warfarin teratogenesis are discussed.
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PMID:The congenital warfarin syndrome. 395 Apr 88

A syndrome of mental retardation, microcephaly, a mongoloid slant to the palpebral fissures, microcornea, strabismus, myopia, optic atrophy, high-arched palate, preauricular skin tags and small mandible is described in four (including one set of twins) of seven sibs born to unaffected, nonconsanguineous parents of German ancestry. An autosomal recessive mode of inheritance seems most likely.
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PMID:An oculocerebrofacial syndrome. 500 10

A patient had a parathyroid adenoma and prolactin-secreting pituitary tumor, suggestive of the multiple endocrine neoplasia (MEN) I syndrome. The presence of a marfanoid habitus--found more typically in MEN III syndrome--as well as mitral valve prolapse, mental retardation, and bilateral optic atrophy suggests a new variant of the MEN syndrome, possibly representing widespread dysplasia of endocrine and other tissues.
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PMID:Multiple endocrine neoplasia, type I. Association with marfanoid habitus, optic atrophy, and other abnormalities. 613 88

Thirty-four patients with congenital cytomegalovirus infection who were symptomatic as newborns were followed in a special clinic providing periodic medical and visual examinations as well as psychometric testing and audiometry. All patients had symptoms of congenital infection by 2 weeks of age, and 31 of 34 had virus isolated from urine within the first month of life. Age at latest follow-up varied from 9 months to 14 years with a mean of about 4 years. Ten patients died and 23 surviving patients had adequate follow-up examinations; all but two had evidence of central nervous system or auditory handicaps. Microcephaly was present in 16 (70%), mental retardation in 14 (61%), hearing loss in seven (30%), neuromuscular disorders in eight (35%), and chorioretinitis or optic atrophy in five (22%). Children with symptomatic congenital cytomegalovirus infection are at very high risk for handicaps that will significantly impair development.
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PMID:Outcome of symptomatic congenital cytomegalovirus infection: results of long-term longitudinal follow-up. 615 68


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