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

Case report of a nine month old girl with Cerebral Gigantism. It is a gigantism syndrome characterized by advanced bone age, a typical craniofacial dysmorphia and a not progredient mental retardation. Etiology and pathogenesis of this syndrome are unknown.
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PMID:[Cerebral gigantism (Sotos-syndrome) (author's transl)]. 19 23

An 8-year-old boy with an uncorrected ventricular septal defect, pulmonary stenosis, mental retardation, and gigantism died 24 hours after partial resection of a large right-sided Wilms' tumor. The presence of other abnormalities, including a small umbilical hernia and overgrowth of the external genitalia, raises the possibility that this case represents a variant of the Beckwith-Wiedemann syndrome. The typical facial features of Sotos' syndrome were not present. Gross examination of the surgical specimen revealed that tumor was present in the resected margin of left renal vein. Necropsy showed that death resulted from extensive cerebral infarction due to occlusion of the left internal carotid artery and its branches by tumor emboli. Paradoxical embolism had occurred during or soon after partial resection of the tumor mass due to passage of tumor fragments into the systemic circulation through the ventricular septal defect.
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PMID:Fatal paradoxical embolism to the left carotid artery during partial resection of Wilms' tumor. 132 57

The authors report a case of a six-year-old boy with seizures, mental retardation and some classic features of tuberous sclerosis, i.e., cutaneous hypomelanotic macules, poliosis, cyst-like lesions of the right upper limb and cerebral calcifications. From birth he showed partial gigantism of the first two fingers of the right hand associated with an arteriovenous malformation of the ulnar artery and agenesis of the radial artery. The EEG and CT scan studies are also reported. The occurrence of two dysgenetic disorders in one patient as a manifestation of disturbed embryogenesis at a very early stage of development is discussed.
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PMID:Tuberous sclerosis associated with partial gigantism in a child. 340 55

Sotos syndrome, or Cerebral Gigantism is recognised as the syndromic association of mental retardation, macrocephaly and prenatal onset of accelerated growth. A kindred has been investigated in which the father and 4 affected offspring all have the Sotos syndrome. Autosomal dominant inheritance has been postulated in the past, and the family conform to this genetic pattern.
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PMID:Sotos syndrome--autosomal dominant inheritance substantiated. 406 61

We describe a familial syndrome of renal dysplasia, Wilms tumor, hyperplasia of the endocrine pancreas, fetal gigantism, multiple congenital anomalies and mental retardation. This condition was previously described by Perlman et al [1973, 1975] and we propose to call it the "Perlman syndrome." It appears to be transmitted as an autosomal recessive trait. The possible relationships between dysplasia, neoplasia and malformation are discussed.
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PMID:The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. 609 33

Nine cases of congenital hemihypertrophy of an entire half of the body ("true" hemihypertrophy) were investigated in relation to literature data. The left side was more often affected (7:2) and the abnormality was more frequent in females (5:4). Associated abnormalities were present in all cases: a single abnormality in 3 cases (mental retardation, iris heterochromia and, respectively, left foot gigantism) and 3 to 13 abnormalities in the other 6 cases. Prominent hemiface, asymmetric macroglossia on the affected side, unequally developed breasts, unilateral gigantism of the foot, iris heterochromia, duplication of the renal pelvis, were considered important signs which easily draw attention. Out of nine cases investigated, three presented associated tumors: two tumors, one cerebral (malignant ependymoma) and the other hepatic (cavernous hemangioma) in one case, hepatoblastoma in another case, and multiple skin angiomas in the affected side of the third one. The case presenting two tumors had also the greatest number (twelve) of associated abnormalities.
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PMID:Congenital hemihypertrophy. Tendency to association with other abnormalities and/or tumors. 622 Feb 11

Hemimegalencephaly (HME) is an uncommon sporadic nonfamilial congenital dysplastic abnormality of the central nervous system, characterized by enlargement of one cerebral hemisphere, with cranial asymmetry, hemiparesis, epilepsy, and mental retardation. It can occur in isolation or associated with various anomalies, namely skin disorders. The main neuropathologic findings are hemispheric gigantism, macro- and/or micropolygyria, cortical thickening with lack of lamination, blurred boundaries of the gray and white matter, and large ortho- and heterotopic neural cells. The results obtained by morphological investigations carried out on six patients with HME, compared with the findings recorded in similar studies performed on one patient with tuberous sclerosis (TS) and another with pachygyria, allow the authors to (a) confirm the dysplastic nature of HME and its autonomy from TS; (b) demonstrate that ortho- and heterotopic neuronal cells do not differentiate completely during proliferation and migration from the germinal matrix; (c) document, by means of flow cytometric study, a normal euploid DNA content in the enlarged hemisphere, consequently ruling out heteroploidy as a cause of both cell "hypertrophy" and enlargement of the malformed cerebral hemisphere.
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PMID:Hemimegalencephaly. Histological, immunohistochemical, ultrastructural and cytofluorimetric study of six patients. 911 45

We report the association of Beckwith-Wiedemann syndrome (BWS) and a residual acid sphingomyelinase (ASM) activity of about 35% in a 23 months old Hungarian boy. Besides the classical triad of exomphalos, macroglossia and gigantism some other BWS-related features: polyhydramnios (known from the praenatal history), hemihypertrophy, craniofacial dysmorphy, a mild mental retardation, bilaterally undescended testes, cardiac anomalies and a terminally developed, fatal embryonal rhabdomyosarcoma were present in the patient. The decreased activity of the ASM was measured in the patient s skin fibroblasts. This result, with hepatomegaly, mental retardation, feeding problems, a failure to thrive and muscle-hypotony, partially resembled the ASM-deficient forms of Niemann-Pick disease (NPD). Morphological analysis of the bone-marrow cells gave normal results. There was no chromosomal alteration found by conventional karyotyping of the patient s lymphocytes.BWS-associated genes as well as the human ASM gene (SMPD1) are all located at 11p15. DNA-studies by region specific markers as well as mutational analysis for the most common NPD-mutations are planned in the future. This is the first report on the simultaneous occurrence of BWS and ASM-deficiency.
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PMID:Acid sphingomyelinase deficiency in Beckwith Wiedemann syndrome. 1117 64