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)

The apparently rare cytogenetic abnormality of partial trisomy 15 was diagnosed by the authors in a patient presenting with developmental retardation, macrocephaly with ventricular enlargement and prominent subarachnoid spaces, hypotonia, low-set ears, hyperextensible wrists and hands, high arched palate, tapering fingers, right esotropia, and bilateral metatarsus adductus. Clinical findings in this case are similar to previously reported cases of proximal duplications of chromosome 15 and bear some similarity to the Prader-Willi syndrome. However, our patient did not have the severe hypotonia, early failure to thrive, or genital abnormalities seen in classical Prader-Willi syndrome. This case supports the theory that a variety of cytogenetic aberrations in proximal 15q can cause a "Prader-Willi-like" syndrome. Increased clinical suspicion is needed when patients are seen with hypotonia, retarded development and mild dysmorphism if the variety of phenotypes are to be delineated.
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PMID:Proximal duplications of chromosome 15: clinical dilemmas. 369 32

Three women with neurohypophyseal diabetes insipidus, treated for prolonged periods, including pregnancy, with L-deamino-8-d-arginine vasopressin, gave birth in our hospital. Two of the infants had severe congenital heart disease, one of which was associated with trisomy 21. The third baby, born prematurely, presented with mild intrauterine growth retardation; at the age of 21 months, the boy had severe failure to thrive, hypotonia, and motor retardation. These three cases raise doubts as to the safety of diabetes insipidus or its treatment in pregnancy.
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PMID:L-deamino-8-d-arginine vasopressin treatment in pregnancy and neonatal outcome. A report of three cases. 371 35

We observed a deficiency of both the mitochondrial and cytosolic forms of fumarase in a male infant with mitochondrial encephalomyopathy who presented at one month of age with failure to thrive, developmental delay, hypotonia, cerebral atrophy, lactic and pyruvic acidemia, and fumaric aciduria. The patient died at eight months of age. Isolated skeletal-muscle mitochondria showed selective defects in the oxidation of glutamate (31 ng atoms of oxygen consumed per minute per milligram of mitochondrial protein, as compared with 94 +/- 19 [mean +/- SD] in five controls) and of succinate (18 vs. 145 +/- 18 ng atoms of oxygen per minute per milligram of protein), whereas isolated liver mitochondria oxidized these and other substrates normally. Fumarase activity was virtually absent in both liver mitochondria (53 vs. 2878 +/- 248 nmol per minute per milligram of protein [5 controls]) and skeletal-muscle mitochondria (23 vs. 1997 +/- 717 nmol per minute per milligram [12 controls]). Seventeen other mitochondrial enzymes had normal activity in both liver and muscle mitochondrial extracts. Fumarase activity was also significantly reduced in homogenates of liver tissue (less than 1 vs. 90 +/- 25 mumol per minute per gram of wet weight [five controls]) and skeletal muscle (less than 1 vs. 21 +/- 4 mumol per minute per gram [five controls]), indicating a deficiency of both mitochondrial and cytosolic fumarases. Organ differences in intramitochondrial accumulation of fumarate may have accounted for the selective oxidative defects observed in the skeletal-muscle mitochondria but not liver mitochondria. All these findings are consistent with a profound combined fumarase deficiency.
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PMID:Fumarase deficiency: a new cause of mitochondrial encephalomyopathy. 373 29

Nephrogenic diabetes insipidus usually presents with polyuria, polydipsia, fever, vomiting, dehydration and failure to thrive. However, in infancy polyuria may be absent because of dehydration and reduced glomerular filtration rate. In 2 cases the main presenting feature was hypotonia, with marked head lag. Family studies confirmed the X-linked mode of inheritance of the disease; in case 1 the disease appeared to have arisen as a new mutation in the mother, and in case 2 the carrier status was traced back to the great-grandmother. Pitfalls in the diagnosis and detection of the carriers are discussed. Treatment with thiazide diuretics and prostaglandin synthesis inhibitors is effective in reducing urine volumes and polydipsia. The early detection of the disease and adequate management may prevent such complications as megacystis, mega-ureter and hydronephrosis, with resulting renal failure. Mental and physical retardation may also be avoided.
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PMID:Nephrogenic diabetes insipidus presenting with infantile hypotonia. A report of 2 cases. 373 62

The pattern of growth of 235 very low-birthweight children, whose weights were appropriate for gestational age, was characterised by a significant decline in weight, length and head circumference from birth to discharge from hospital, followed by partial recovery in all three measures of growth by two years corrected age. 29 per cent of the children were below the 10th percentile for weight at two years, and this group had a significantly higher incidence of major disabilities, poorer muscular development, more hypotonia and lowered performance on the psychomotor index of the Bayley Scales of Infant Development than their heavier peers. These children's mothers more often perceived them as actively disliking close physical contact, and they were reported by their mothers to have had more infections, minor surgery and chronic otitis media. Taken together, the suboptimal weight-gain, delayed gross motor development and increased maternal perceptions of 'sickliness' and lack of 'cuddliness' in these children are reminiscent of non-organic failure to thrive.
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PMID:Sequelae of growth failure in appropriate for gestational age, very low-birthweight infants. 375

We evaluated 31 consecutive patients, including 11 children, with creatine kinase variants (CKV) in our laboratory during a year. All had a clinical history of central hypotonia with myocardial damage resulting in severe central hypoxia. Seven of the 11 were neonates and had Apgar scores of 2.8 (SD 2.3) at 1 min and 4.8 (SD 2.4) at 5 min, which reflected their severe birth hypoxia. For the seven neonates, the mean value for total serum creatine kinase (EC 2.7.3.2; CK) was 773 (SD 553) U/L. The mean percentage CKV was 20.7% (SD 12.5%). The other four children were being evaluated for failure to thrive; all had birth asphyxia with residual cerebral palsy and seizure activity. These older children had a lower percentage of CKV (7.3%, SD 1.01%) than did the neonates, but the total CK (725, SD 1335 U/L) was not significantly different. In four neonates there was a three- to 20-day delay in the appearance of CK variant, which followed a marked increase in total CK activity. Tissue necrosis is apparently an important factor in the pathogenesis of Type I CK variant.
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PMID:Creatine kinase variant type I in children with anoxic insult. 395 19

Six patients are described in whom a deficiency of cytochrome oxidase in muscle tissue was found. Four patients suffered from the syndrome of 'floppy babies' with profound hypotonia, muscle weakness and failure to thrive. They died within the first 6 months of life. Two patients suffered from Leigh's and Alpers' syndrome, respectively. In all patients lactate level was elevated in one or more body fluids, whereas in 4 patients a generalized amino-aciduria was found. With electronmicroscopy structurally abnormal mitochondria were seen in the muscle of 5 out of the 6 patients.
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PMID:[Mitochondrial myopathy associated with cytochrome oxidase deficiency]. 609 82

A newborn female, the second child of consanguineous parents, exhibited general muscle hypotonia, apathy, hepatomegaly and failure to thrive from birth and signs of craniofacial dysmorphia were present. Pipecolic and trihydroxicoprostanoic acid were excreted in the urine and serum transferrin, ferritin and iron were markedly elevated. At the age of 7 weeks the baby died of respiratory insufficiency. Besides malformations of the brain, renal cysts, liver damage with hypoplastic intrahepatic bile ducts and cholestasis, increased storage of iron and cytochemically proven deficiency of peroxisomes in liver and kidney, morphological studied provided evidence of a mitochondrial myopathy in striated muscle with the accumulation of enlarged bizarre mitochondria, showing only minor structural abnormalities. No defects of NADH-reductase, succinate-dehydrogenase or cytochrome-c-oxidase were demonstrated histochemically. Cytochemical-ultrastructural investigation of mitochondrial ATPase revealed activation of the ATP-synthesising enzyme even before the addition of an uncoupler, this indicating loosely coupled oxidative phosphorylation. In addition a high rate of subcellular autophagy with segregation of mitochondria and focal loss of fibrils was present. Muscle damage in Zellweger syndrome appears to be the consequence of complex, interacting metabolic processes. The mitochondrial myopathy thereby induced allows a better understanding of general muscle hypotonia, one of the leading symptoms of this disorder.
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PMID:Mitochondrial myopathy with loosely coupled oxidative phosphorylation in a case of Zellweger syndrome. A cytochemical-ultrastructural study. 614 41

A case of cytochrome c oxidase deficiency primarily affecting skeletal muscle is described. The child was admitted at 4 weeks due to failure to thrive and examination at that time revealed weakness and hypotonia. His condition deteriorated until at 11 weeks respiratory arrest necessitated artificial ventilation and death occurred at 14 weeks. Biochemical investigation showed lactic acidaemia and generalised aminoaciduria. Histochemical examination of muscle obtained at biopsy showed strong reactions for some oxidative enzymes, but by contrast cytochrome c oxidase could not be detected. Cytochrome c oxidase activity was less than 5% of control values in an extract of fresh muscle. The reduced-minus oxidised absorption spectra of muscle mitochondrial fractions prepared from post-mortem tissue showed an absence of cytochrome aa3 and a partial deficiency of cytochrome b. Ultra-structural examination showed abnormal mitochondria with loss of cristae and an abnormal granular matrix. The family history suggests autosomal recessive inheritance.
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PMID:Fatal infantile mitochondrial myopathy due to cytochrome c oxidase deficiency. 631 67

Congenital laryngeal stridor (CLS) and laryngomalacia are terms used to describe a common disorder characterized by onset, at or soon after birth, of a harsh respiratory sound mostly audible during inspiration. Typically, laryngoscopy reveals flaccid supraglottic structures which tend to prolapse medially toward the glottis during inspiration. Despite reports of this disorder dating back to the mid-19th century, specific etiology and pathogenesis remain nebulous. Analysis of findings in 30 infants indicate that there are often associated manifestations of delayed development in neuromuscular control. Associated findings include gastroesophageal reflux, obstructive and central apnea, hypotonia, failure to thrive, and pneumonitis. A retrospective review of relevant medical literature along with results of laryngeal dissections and analysis of clinical findings in the 30 cases leads to the conclusion that CLS may be a mild form of localized hypotonia rather than an isolated idiopathic type of anatomic abnormality.
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PMID:Congenital laryngeal stridor (laryngomalacia): etiologic factors and associated disorders. 649 35


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