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 4.5-year-old male patient is described with chorioretinopathy, minor facial anomalies, delayed closure of the fontanel, mental retardation, moderate hypotonia, epilepsy and hepatic fibrosis. Postural control, intentional vocalising and manual dexterity were superior to the performance of patients with classical Zellweger syndrome (ZS). Morphologically distinct peroxisomes were absent in the liver. In blood elevated pipecolic acid levels and abnormal levels of bile acid intermediates were found. The plasmalogen content of erythrocytes was normal. In fibroblasts we found an accumulation of very long chain fatty acids, decreased activity of acyl CoA:dihydroxyacetone phosphate acyltransferase, and impaired de novo biosynthesis of plasmalogens. On the basis of these clinical, ultrastructural and biochemical characteristics we assume that this patient represents a milder variant of the classical cerebro-hepato-renal syndrome of Zellweger.
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PMID:A milder variant of Zellweger syndrome. 407 50

The trisomy 5p (5p13----p ter) was identified by G-banding in a proband girl, whose mother was a balanced translocation carrier 46, XX, t(5;8) (p13;p23). Based on the clinical and cytogenetic findings, previously published and our own, it is possible to define a particular phenotype associated with the dup (5p), including (5p13), or the complete short arm. Patients were of similar phenotype: mental retardation, macrocephaly, hypotonia, mongoloid eye slant, low-set ears, depressed nasal bridge, macroglossia, longer fingers, epicanthus, thick cheeks.
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PMID:[A new case of trisomy 5p]. 408 94

The oculocerebrorenal syndrome (OCRS), Lowe's syndrome, is an X-linked, recessive disease characterized by mental retardation, congenital corneal abnormalities and cataracts, growth failure, rickets, osseous abnormalities, renal dysfunction with periodic acidosis, hypotonia, and areflexia. Ultrastructural studies of skin biopsy specimens in three individuals with the disorder (aged 17, 9, and 8 years) revealed cytoplasmic, membrane-bound, electron-lucent vacuoles and some electron-dense membranous inclusion bodies in fibroblasts and Schwann cells, as well as axonal degeneration and vascular changes. Computed tomographic scans evidenced brain atrophy. Urinary excretion of glycosaminoglycans (GAG) was four to five times greater than in normal controls. The predominant urinary GAG was a low-sulfated chondroitin-4-sulfate; chondroitin-6-sulfate and heparan sulfate excretion levels were normal. A tenfold increase in urinary GAG excretion was found in one patient with oculocerebrorenal syndrome during periods of behavioral agitation. These findings suggest that the clinical stigmata of oculocerebrorenal syndrome may be related to a defect in GAG metabolism.
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PMID:Ultrastructural, neurological, and glycosaminoglycan abnormalities in lowe's syndrome. 608 20

The anaesthetic management of four paediatric patients with the Prader-Willi syndrome is reported. The syndrome is characterized by obesity, mental retardation, genital hypoplasia, hypotonia, and diabetes mellitus. All patients were anaesthetized with halothane. Succinylcholine or pancuronium were used for muscle relaxation, without evidence of abnormal response. Common anaesthetic difficulties in this syndrome are obesity, hypotonia, disturbance in thermoregulation, arrhythmias, diabetes mellitus and convulsions.
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PMID:Anaesthetic considerations in the Prader-Willi syndrome: report of four cases. 613 37

A review of the clinical profile of congenital sensory neuropathy with anhydrosis is presented. It is stressed that major diagnostic criteria of this recessively inherited condition should be limited to insensitivity to pain with normal tactile perception, anhydrosis, recurrent unexplained fever, self-mutilation, mental retardation, hypotonia, histologically normal sweat glands and variable autonomic abnormality. A case conforming to this description is reported and compared with 13 published cases. Special investigations of the autonomic nervous system through measurement of urinary catecholamine metabolites and psychophysiologic variables were conducted on this patient. Based on the analysis of 5 X 24-hour urine, values of metabolites of dopamine and epinephrine were normal. Metabolites of norepinephrine, such as 3-methoxy-4-hydroxy phenylglycol and normetanephrine, however, were significantly low when compared with those of four controls, suggesting decreased peripheral and central norepinephrine activity. Polygraph recording and evaluation of some orienting response components revealed no obvious signs of autonomic perturbation and, specifically, no phasic electrodermal activity. These two findings (biochemical and electrodermal) strongly suggest an autonomic imbalance, specifically component, both central and peripheral. It is suggested that autonomic disorder is an integral part of the syndrome and may be demonstrated by special investigations.
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PMID:Congenital sensory neuropathy with anhydrosis-a case report and investigation of autonomic nervous system abnormalities. 616 95

A new syndrome of craniosynostosis is described in two unrelated male children. Associated anomalies include severe exophthalmus; maxillary and mandibular hypoplasia; soft tissue hypertrophy of the palatal shelves; low-set ears with soft, pliable auricles; thoracic anomalies; multiple abdominal hernias; arachnodactyly; and camptodactyly. Functional disorders include infantile hypotonia, developmental delay, mental retardation, and obstructive apnea. Karyotypes were normal. An etiology for this recurrent pattern syndrome has not yet been established in the absence of a family history of similar anomalies in both cases.
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PMID:A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias. 618 56

Histological changes of muscle from a 17-month-old boy with pyruvate dehydrogenase deficiency are presented. The patient had muscle hypotonia, mental retardation, seizures, lactic acidosis and hyperalaninemia. Deficient activity of the pyruvate dehydrogenase complex was found in his platelets (about 25% of normal) and of pyruvate dehydrogenase in his biopsied muscle (about 5% of normal). A muscle biopsy specimen showed an increased proportion of type IIC fibers (24%), fiber-type grouping and lipid droplet accumulation.
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PMID:Histological changes of muscle in a patient with pyruvate dehydrogenase deficiency. 623 Sep 47

Two Dutch siblings are described suffering from muscular weakness, hypotonia, severe joint contractures, mental retardation and epileptic fits. E.M.G. showed a characteristic myopathic pattern. Muscle biopsy revealed changes consistent with congenital muscular dystrophy. On CT marked hypodensities of the cerebral white matter were noticed. These findings are consistent with congenital muscular dystrophy of the Fukuyama type, a peculiar form of congenital muscular dystrophy, extremely rare outside Japan.
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PMID:Two Dutch siblings with congenital muscular dystrophy (Fukuyama type). 631 92

EMG and nerve conduction studies have limitations and require particular consideration in children. The indications and the main results are considered from the study of 1624 EMGs in 1385 children under 15 years old seen over a period of 3 years. Classification of cases was based on clinical criteria. The diagnostic yield of EMG is emphasized in the evaluation of 122 children with hypotonia and weakness (all under 3 years old); abnormalities were demonstrated in 48% leading to the diagnosis of spinal muscular atrophy in 16%, of congenital myopathies in 11%, and of peripheral neuropathies in 8%. In 103 children with hypotonia associated with mental deficiency and/or seizures, evidence of a peripheral neuropathy was shown in 20%. EMG abnormalities allowing the diagnosis of hereditary motor and sensory neuropathies or myopathies were demonstrated in a wide range of clinical conditions. EMG appears to be useful for the early detection of hereditary myopathies or neuropathies in asymptomatic children. It may have also a prognostic value as in adults, especially in nerve traumas.
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PMID:[Value of electromyography in the child. Apropos of 1,624 examinations performed over a 3 year period]. 632 4

A new familial observation of Cohen syndrome in two sisters is reported. Both children exhibited the typical features of Cohen syndrome, i.e. obesity, hypotonia, mental deficiency and a dysmorphic syndrome mainly involving the facies and extremities. More accurate delineation of the nosologic limits of this syndrome is ensured by a critical review of the 17 observations published in the medical literature, which include 9 familial cases: the contribution of subsequent observations to the initial description is pointed out. Attention is drawn to the unusual course of the obesity which typically occurs after five years of age, in contrast to common obesities. Furthermore, Cohen syndrome is remarkable by the morphologic abnormalities, particularly those of the facies, which should suggest the diagnosis. As in our observation, data from the literature is in support of autosomic recessive inheritance which implies restrictive genetic counseling.
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PMID:[Cohen's syndrome in 2 sisters]. 632 7


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