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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors report the case of a 19 year old woman with supravalvar aortic stenosis and hypoplasia of the ascending aorta with stenosis at the origin of the innominate artery. This was a sporadic form, without mental deficiency nor facial dysmorphia. No similar case was found in the family. The patient had three attacks of bacterial endocarditis over a period of 3 years and became cured without any cardiac sequelae. In view of the onset of left ventricular failure and sequelae. In view of the onset of left ventricular failure and syncope, operation was decided. A lozange-shaped patch was placed on the aorta from the narrowed supravalvar part to the origin of the innominate artery and prolonged on the latter vessel after relief of the stenosis. This gave an excellent result.
Sem Hop 1975 Mar 14
PMID:[Supravalvular ring type aortic stenosis with hypoplasia of the ascending aorta and stenosis of the origin of the innominate artery. Surgical correction]. 17 97

The authors report a case of cerebral gigantism and review 83 cases found in the world literature. The diagnosis depends on the association of several factors, none of which alone are specific but which, on the whole, form a fairly characteristic picture. Large size at birth, leading only rarely to gigantism at adult age. Facial dysmorphia of acromegaloid type. Ecephalopathy with mental deficiency without any neuroradiological abnormality. Finally, endocrine investigations and somatotropic function were normal. No etiology has been found up to now. The most satisfactory theory is that of a hypothalamopituitary disturbance. Treatment may simple avoid excess height at adult age and is based on sex hormone therapy to accelerate bony maturation.
Sem Hop
PMID:[Cerebral gigantism. Review of the literature apropos of one case]. 18 50

In the present state of our knowledge of cytogenetics, it seems logical to distinguish Noonan's syndrome from Turner's syndrome, thanks to the following arguments: Althought there are minor differences in the morphotype, the small size and the mental retardation are the same in both cases. However there are two lines of evidence: The first, inconstant, concerns the lesser intensity of the gonad changes, especially in the female sex, explaining the relative frequency of the familial forms of the syndrome, of Noonan, which are then trasmitted as autosomic dominants with variable penetrance. The second, constant and formal until now, concern the chromosome abnormalities. Present in Turner's syndrome, which they help to define in both sexes, they are always absent in Noonan's syndrome, in boys as in girls.
Sem Hop 1978 Mar
PMID:[3 recent cases of Noonan's syndrome]. 21 29

The authors presented a case of the Williams and Beuren's syndrome, special by the existence of aorta coarctation, high blood pressure, nephrotic syndrome and renal dysplasia. The Williams-Beuren's syndrome is characterised by the association of facial anomalies, mental retardation and supra-valvular aortic stenosis. The case presented in this study demonstrates: -- the symptomatic diversity of the Williams and Beuren's syndrome; -- and the relationship of this syndrome and severe idiopathic hypercalcemia of the infant. The etiopathogenesis is also discussed.
Sem Hop
PMID:[Williams and Beuren's syndrome with hypertension and associated renal abnormalities (author's transl)]. 22 86

In 20 out of a series of 30 children with Bourneville's disease, the diagnosis was made from the association of epilepsy and multiple achromic spots, before the appearance of adenomas. A total of 27 of these 30 children had these spots, and their characteristics are reviewed, as well as the average age of onset and frequency of the other typical cutaneous signs noted in this group: sebaceous adenomas, Koenen's tumors, and leather-grained skin plaques. Severe epilepsy was a constant finding and was often resistant to treatment: West's syndrome (18 cases), and Lennox Gastaut's syndrome (16 cases). Severe mental deficiency was also an almost constant finding and was increased by behavioural disorders: 11 out of the 13 children aged more than 5 years. Other locations of the disease included more particularly the ocular (8 cases), skeletal (11 cases), and renal (1 case) regions. In 5 cases, the disease had been transmitted by a parent, but in 3 of these it had not been recognized.
Sem Hop
PMID:[Bourneville's tuberose sclerosis in children (author's transl)]. 22 12

This is a report on a now alive, 18 years old boy. He was affected by a progressive encephalitis which began between 7 and 12 years of age. The first signs were walking disorders and mental regression. The disease which developed during a few years led to a bed-ridden state and advanced mental deficiency. Strong biological arguments (analysis of the cerebrospinal fluid, virological study, brain biopsy) and comparison with several similar cases published before leading to the conclusion of rubella origin of this encephalopathy, despite of the absence of known history of congenital or acquired rubella in our case.
Sem Hop
PMID:[Progressive chronic rubella encephalitis. Report of a personal case (author's transl)]. 625 96

Within the heterogeneous group of microcephalies, a syndrome can be defined characterized by microcephaly, mental retardation, and chorioretinal dysplasia, often also with microphtalmia and embryonic remnants such as persistance of the primitive vitreum. Although this condition is usually considered autosomal recessive, the authors report a family observation consistent with dominant transmission.
Sem Hop
PMID:[Hereditary microcephaly with autosomal dominant chorioretinal dysplasia (author's transl)]. 625 36

The ataxia-opsoclonus-myoclonus syndrome that was well individualized by Kinsbourne is mostly observed in young children (less than three years old in 90 percent of the cases). From six personal cases, and from a review of ninety cases of the literature, the clinical and etiological features, as well as the evolution of the syndrome, are studied. Prodromes (infectious and digestive manifestations) and comportmental changes usually precede the sudden onset of the clinical triad. Neurologic complementary investigations are typically normal during the acute phase. The frequent association (46 percent of the cases) of this syndrome to a neuroblastoma (usually thoracic) makes it very particular from the etiological point of view. The evolution is identical whatever the type ("isolated" or "tumoral"). Corticotherapy (ACTH or corticoids) is efficient in 60 percent of the cases. But recurrences and cerebral sequelae (mental deficiency and speech disorders) are frequent.
Sem Hop
PMID:[Ataxia-opsoclonus-myoclonus syndrome]. 626 94

One hundred patients, aged between 60 and 92 years, were treated with tiapride for neurological disorders (abnormal movements, buccofacial dyskinesias, dopa therapy complications, ballism, eyelid tics, senile tremor, post-traumatic headache, delirium tremens), psychiatric disorders with more or less marked agitation and of various types (hysteria, depression, mood disturbances, hypochondria, delusions, hallucinations), or for mental deficiency, senile dementia, or arteriopathic dementia. Results were excellent, being satisfactory in 70 p. cent, and even more marked in some groups. Tolerance was very good, with some rare cases of somnolence. The efficacy and safety of tiapride makes it of particular value for treating neuropsychiatric disorders in geriatric patients.
Sem Hop
PMID:[Tiapride in the treatment of neurological and psychiatric disorders in the elderly (author's transl)]. 627 32

A karyotype 46,XY,20q-(q13 leads to qter) was found in an infant with severe mental deficiency, epilepsy, and the following dysmorphic features : upward slanting palpebral fissures, hypoplastic nasal bridge, bulbous nose, long philtrum, microretrognathia, and aplasia of the middle phalanx of fingers and toes. Adenosine deaminase activity was within the hemizygous range, permitting regional assignment of the ADA locus to 20q13 leads to qter.
Sem Hop 1982 Jun 03
PMID:[Partial monosomy 20q : a new syndrome. Regional assignment of the ADA locus on 20q132 (author's transl)]. 628 96


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