Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A mentally retarded, 10-year-old female with obesity, hypotonia, clumsiness and mild ocular abnormalities excreted in her urine large amounts of alpha-aminoadipic acid. Amino acid analyser studies and gas-liquid chromatography--mass spectrometry (GC--MS) confirmed the presence of alpha-aminoadipic acid in both urine and plasma but, in contrast to most other patients with this disorder, failed to demonstrate significant levels of alpha-ketoadipic acid in urine. Other known causes of alpha-aminoadipic aciduria were eliminated by showing that levels of lysine, saccharopine and pipecolic acid in plasma and urine were normal and that the activity of glutaryl-CoA dehydrogenase was also normal. Loading with L-lysine and L-tryptophan both increased the concentration of alpha-aminoadipic acid in blood and urine compatible with the primary deficiency of alpha-ketoadipate dehydrogenase, in spite of the absence of alpha-ketoadipic aciduria. Dietary restriction of lysine and administration of vitamins B1 and B6 were unsuccessful in correcting the biochemical abnormality.
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PMID:Biochemical and clinical studies of a new case of alpha-aminoadipic aciduria. 11 47

In 1973 Cohen et al reported a new syndrome in two siblings and an unrelated individual, consisting of obesity, mental retardation, hypotonia, limb abnormalities, and a characteristic craniofacial appearance. Since then no similar cases have appeared in the literature. This report firmly establishes the Cohen syndrome as a distinct clinical entity by presenting four additional patients, including a sibling pair of normal parents, suggesting autosomal recessive inheritance. One of our four patients has normal intelligence, indicating that mental deficiency is a variable feature of the syndrome.
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PMID:Confirmation of the Cohen syndrome. 67 Nov 57

Two teen-age XY brothers with mental retardation, short stature, obesity, genital abnormalities, and contractures of their hands are described. They have generalized osteoporosis and a history of frequent fractures. Their endocrinologic evaluation was normal except for mild glucose intolerance and delayed, but normal puberty. Although these brothers are similar to individuals with Prader-Willi syndrome, their unusual hand contractures, clinically significant osteoporosis, and lack of hypotonia indicate that they represent a different entity.
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PMID:Familial syndrome of mental retardation, short stature, contractures of the hands, and genital anomalies. 75 22

Four adolescents or young adults with the Prader-Willi syndrome (hypotonia, mental retardation, hypogonadism and obesity) received a protein-sparing modified fast consisting of 1.5 g of meat protein per kilogram of ideal body weight and meeting vitamin, mineral and fluid requirements. Evaluation of nitrogen and energy metabolism revealed the development of starvation ketosis and a positive nitrogen balance. Serial whole-body potassium measurements in two patients confirmed preservation of lean tissue despite continuing loss of weight. Clinical diabetes mellitus in two subjects was rapidly ameliorated by the regimen. Short-term weight loss greater than 18 kg occurred in three of the four subjects, and reduced weight persisted during observation periods of 26 to 44 months. This degree of outpatient diet adherence by mentally deficient subjects, who do not normally experience satiety, suggests that hunger is eliminated or at least reduced by modified, protein-sparing fasting.
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PMID:Metabolic aspects of a protein-sparing modified fast in the dietary management of Prader-Willi obesity. 84 Feb 78

A 29-year-old obese man had marked tonsillar hypertrophy, somnolence, hypoxemia, and hypercapnia. Endotracheal intubation followed by tracheostomy relieved the hypoventilation. Weight loss improved the arterial blood gas levels. Sequential upright and supine flow-volume loops were compatible with a fixed upper-airway obstruction (such as would occur) with enlarged tonsils) prior to tonsillectomy. Following surgery, the expiratory flow-volume curve was abnormal in the supine position, consistent with the additional diagnosis of posterior pharyngeal hypotonia. Thus, in this patient the unique combination of tonsillar hypertrophy, posterior pharyngeal hypotonia, obesity, and a depressed respiratory center led to retention of carbon dioxide.
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PMID:Tonsillar hypertrophy in an adult with obesity-hypoventilation syndrome. The use of the flow-volume loop. 97 91

Mental retardation, hypogonadism, obesity, and abnormal blood sugar regulation were common findings in two siblings. In addition, the 17-year-old female patient showed short stature, muscular hypotonia in infancy, and small hands with tapering fingers suggesting Prader-Willi syndrome, and the 12-year-old male patient showed retinitis pigmentosa, normal height, and normal muscular tonicity suggesting Laurence-Moon-Biedl syndrome, though polydactyly was absent. Possible consideration was discussed.
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PMID:Laurence-Moon-Biedl syndrome (?) and Prader-Willi syndrome (?) in a single family. 99 74

A case with Prader-Willi syndrome (P.W.S.) is reported. The patient manifests: obesity, hypogonadism, hypotonia, mental retardation, small hands and feet, prominent forehead, bitemporal narrowing, strabismus, hypoplastic teeth, generalized caries and thick, sticky saliva. The patient is presented at two different ages (10 and 14), and the development of the characteristics of the syndrome is described. Emphasis is given to the oral findings especially to the generalized caries, that led to an almost complete destruction of the teeth. The role of the dentist is considered to be important for the control of the dental problem of this syndrome.
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PMID:Prader-Willi syndrome: report of a case with special emphasis on oral problems. 129 Jul 59

A male case of Prader-Willi syndrome (2.8 years in age) with an interstitial deletion of a chromosome affecting 15q 11-12 region is reported. The chief complaints were hypoplastic scrotum and defect of bilateral scrotal content. The clinical features were short stature, obesity, delayed mental development, bilateral cryptorchidism, hypogenitalism, hypopigmentation, and bilateral moderate vesicoureteral reflux with a history of muscular hypotonia. Bilateral orchidopexy was done. Endocrinologically both base values of luteinizing hormone (LH) and follicle stimulating hormone (FSH) were normal although LH reserve function was impaired on gonadotropin releasing hormone (GnRH) test. Testosterone response was normal by the stimulation of human chorionic gonadotropin. An interstitial deletion of proximal 15q, and pituitary-gonadal axis in Prader-Willi syndrome are discussed in relation to the clinical features and therapy.
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PMID:[Prader-Willi syndrome associated with chromosomal aberration: report of a case]. 135 45

Obesity occurs in both clinical and animal forms in a variety of specific models which allow study of its underlining endocrine and mechanistic features. Among the neuroendocrine varieties of obesity, polycystic ovaries are probably the most common. The importance of the gonadal feedback system for regulation of food intake and obesity is indicated by the effects of castration in experimental animals which is a widely used mechanism for producing experimental obesity. Cushing syndrome and hypothalamic obesity are rare clinical syndromes. The current evidence suggests that there are two types of hypothalamic obesity from a mechanistic point of view--one associated with hyperphagia as a necessary and sufficient cause and a disturbance of the autonomic nervous system without hyperphagia as a second mechanism. Although genetic factors underlie most types of human obesity, there are several dymorphic forms of obesity including the Prader-Willy syndrome, Cohen's syndrome, Carpenter's syndrome, Ahlstrom's syndrome and the Bardet-Biedel syndrome. The Prader-Willi syndrome is characterized by obesity hypotonia hypogonadism and mental retardation. In animals, a dominant form of inheritance of obesity is seen in the yellow mouse. Current evidence suggests that this syndrome can be explained by reduced acetylation of MSH in the pituitary and/or hypothalamus. Several recessively inherited forms of obesity exist including the obese mouse, the diabetes mouse, fatty rat, the fat mouse, tubby mouse and the corpulent rat. In addition, there are a number of polygenic types of experimental obesity. The final mechanistic classification of obesity are those due to dietary manipulation. For both human beings and animals, a highly fat diet appears to be particularly problematic for the development of obesity.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Genetic, hypothalamic and endocrine features of clinical and experimental obesity. 148 Jul 57

The authors describe the clinical and cephalometric characteristics of a case of Prader-Labhart-Willi syndrome (obesity, hypogonadism, oligophrenia, hypotonia, small hands and feet). Taurodontism and enamel-dentine dysplasia are reported as the main dental features. The craniofacial region shows an increased bony interorbital distance and a low level of the cribriform plate of the ethmoid bone. The possibility that these anomalies could be related to the etiopathogenesis of the syndrome is discussed.
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PMID:[The dentomaxillofacial characteristics of the Prader-Labhart-Willi syndrome. A clinical case report]. 181 31


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