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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 a case of Laurence-Moon-Bardet-Biedl Syndrome with all five recognised features: tapetoretinal dystrophy, polydactily, obesity, mental retardation and hypogonadism. Nevertheless the correct diagnosis was delayed due to the fact, that the patient has a macular dystrophy (instead of a pigmentary retinopathy). He had an operation of the polydactily during childhood. This was not revealed at first. The case underlines the importance of an exact anamnesis of the parents.
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PMID:[Case report of Laurence-Moon-Bardet-Biedl syndrome]. 188 81

The Bardet-Biedl syndrome is a rare autosomal recessive disorder characterized by pigmentary retinopathy, obesity, polydactyly, hypogonadism, and mental retardation. Renal abnormalities, hypertension, acquired heart disease, and hepatic fibrosis also occur in homozygotes. Two adult Bardet-Biedl sibs, a man with hypertension and cardiomegaly and a woman with biliary cirrhosis, and 75 relatives in 5 generations of the extended family were identified. Hospital records for major illnesses, death certificates, and autopsy reports were examined. The frequent observation of obesity, hypertension, diabetes mellitus, and renal disease in first-degree relatives, obligate gene carriers, and other blood relatives raise the possibility that Bardet-Biedl heterozygotes are also predisposed to these disorders.
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PMID:Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs. 187 34

The Kearns-Sayre syndrome is identified by the triad of progressive external ophthalmoplegia, atypical pigmentary retinopathy, and conduction disturbances. In addition, clinical manifestations may include mental retardation, sensorineural deafness, cerebellar ataxia, and facial and peripheral muscle weakness. Morphologic alterations in skeletal muscle may be characterized by ragged-red fibers. Two patients with Kearns-Sayre syndrome underwent electrophysiological examination. The first patient had a first and second degree AV block (Mobitz type II), right bundle branch block, and left axis deviation. The His-bundle electrogram showed a prolonged HV interval as a hint at an intraventricular conduction delay. The signal-averaging technique and endocardial mapping revealed ventricular after-depolarizations. The second patient had an unsuspicious ECG, recurrent atrial tachycardias, normal atrial and ventricular conduction, and after-depolarizations in endocardial mapping. Two months later he showed a second degree AV block combined with clinical symptoms. Pacemakers were implanted in both patients. Beside disturbances of the conduction system in both patients signs of electrical instability of the myocardium were found. In this way the Kearns-Sayre syndrome may be seen as a form of cardiomyopathy.
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PMID:[Electrophysiologic findings in patients with Kearns-Sayre syndrome--report on 2 cases]. 240 85

We studied a family with the Bardet-Biedl syndrome and diabetes mellitus. Two affected brothers and one affected sister were examined. Two older sisters with stigmata of the syndrome had died of unclear causes. The 18-year-old brother was obese, was mentally retarded, and had pigmentary retinopathy and insulin-dependent diabetes mellitus. The 16-year-old sister, who died in a diabetic coma during the course of the investigation, had polydactyly, hypogenitalism, obesity, mental retardation, and pigmentary retinopathy. The 8-year-old brother had all the features of the syndrome, but no overt diabetes mellitus. Electroretinography showed severe cone and rod dysfunction. Patients with the Bardet-Biedl syndrome should be screened for the presence of abnormalities in glucose metabolism.
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PMID:A family with the Bardet-Biedl syndrome and diabetes mellitus. 273 Apr 6

The association of microcephaly and mental retardation with a non-pigmentary retinopathy is described in three siblings of consanguineous parents. The electroretinogram showed the distinctive appearance of markedly attenuated "b" wave but normal "a" wave suggestive of a retinal dystrophy primarily affecting post-receptoral elements in the inner retina. This appears to be an autosomal recessive condition which has not been previously reported.
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PMID:Autosomal recessive microcephaly, mental retardation with nonpigmentary retinopathy and a distinctive electroretinogram. 277 41

This article reviews several autosomal recessive syndromes characterized by pigmentary retinopathy and, in many, combined with deafness, hypogonadism, and/or mental retardation. These syndromes are manifested in infancy and childhood. Although no specific treatment is available, an early diagnosis can be the first step in initiating symptomative management and preventive measures for the patient and family.
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PMID:Seven hereditary syndromes with pigmentary retinopathy. A review and differential diagnosis. 389 11

This paper contains abstracts from publications of the late Sir Norman McAlister Gregg, published in 1941 and 1944, in which he demonstrated the association between rubella in pregnancy and defects in the baby. Besides cataract and retinopathy with which ophthalmologists are familiar, there occur deafness, deafmutism, cardiac defects, mental retardation, pulmonary and renal abnormalities and diabetes.
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PMID:Congenital cataract following German measles in the mother. Abstracts from the publications of the late Sir Norman McAlister Gregg. 390 70

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

The visual outcome in cases of congenital cataract, managed both surgically and conservatively, is outlined. Final vision was better in cases with partial cataract, about 40% of whom attained 6/24 or better vision. With total cataracts, none could achieve this level of vision, with the majority (84%) attaining only 6/60 or less acuity. Visual results were also better in patients without nystagmus, 34% of whom attained 6/24 or better vision, while in cases with nystagmus, only 15% could come up to this level. Cataracts necessitating early surgery had a worse prognosis than cataracts necessitating late surgery. Visual results were best in cases with bilateral cataracts, partial cataracts, absence of associated ocular anomalies, the absence of nystagmus and in patients requiring later surgery. The important causes of nonimprovement of vision were amblyopia and after-cataract. Retinal detachment, retinopathy, and degenerative myopia were some of the less frequent causes of poor vision, while mental retardation was another important factor. Full cooperation from the parents is absolutely essential in the proper visual rehabilitation of the handicapped child.
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PMID:Congenital cataract: management and results. 664 86

Two sisters with Laurence-Bardet-Biedl-Moon syndrome were observed. This consists of mental retardation, pigmented retinopathy, polydactyly, obesity and hypogenitalism. Both had carcinoma of the endometrium shortly after age 40. The question is raised whether factors in this syndrome predispose to carcinoma of the endometrium.
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PMID:[Two sisters with Laurence Bardet-Biedl-Moon syndrome and concomittant carcinoma of the body of the uterus (author's transl)]. 736 92


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