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)

Hypercalcaemia occurs in two forms: mild and severe. In the mild form, usually in young infants the characteristic signs of the severe from (Williams syndrome) are absent, and thus it may cause diagnostic difficulties. Because of that, in infants with muscular hypotonia, growth arrest, constipation and apathy the possibility of idiopathic hypercalcaemia, apart from rickets, should be considered.
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PMID:[A case of idiopathic hypercalcemia (hypersensitivity to vitamin D 3]. 133 82

An infant presented with congenital hypotonia, poor sucking, apathy, and areflexia. Muscle biopsy at two months of age revealed numerous nemaline rods, suggesting congenital nemaline myopathy. During the ensuing months, familial dysautonomia was suggested by recurrent pulmonary infections, dysphagia, alacrima, hyperhydrosis, emotional lability, and unexplained episodes of hyperthermia and breath-holding spells. The diagnosis was confirmed by positive intradermal histamine and ocular mecholyl tests. The finding of nemaline rods adds a new facet to the recognized polymorphic presentation of familial dysautonomia.
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PMID:Familial dysautonomia manifesting as neonatal nemaline myopathy. 285 35

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

Two newborn female siblings fell ill with apathy, failure of suckling and a generalized progressive muscular hypotonia. Death occured at the age of 7 weeks, obviously caused by impairment of respiratory musculature. Biochemical studies in one child revealed carnitine deficiency especially in skeletal muscle; hepatic encephalopathy was absent. Both children had a generalized hyperaminoaciduria, an unusual finding in primary carnitine deficiency. Besides fatty metamorphosis of the liver, bilateral hydroureters and tubular calcifications of both kidneys, morphological studies showed a generalized lipid storage myopathy which predominated in Type-I-fibres and was accentuated in the muscles of the neck. Enzymehistochemical electron microscopy in longterm frozen muscle demonstrated that cytochrome-c-oxidase activity was absent not only in myopathic but also in most of the morphological unchanged muscle fibres. Only some fibres and endothelial cells displayed normal activity of mitochondria. Biochemically no cytochrome aa3 (cytochrome-c-oxidase) could be found in skeletal muscle; cytochrome b was almost undetectable. --In newborns with fatal lipid storage myopathy and carnitine deficiency it seems necessary to look for additional defects in the respiratory chain. Enzyme histochemical electron microscopy is a sensitive method in identifying cytochrome-c-oxidase even after a 12 months period of storage.
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PMID:Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle. 629 99

The purpose of this work was to review the literature about the newborn neurological pathology and to compare it with our results starting from the observation of 650 children who born at the Clinical Hospital of Porto Alegre from September 1979 to June 1980. Out of these, 100 presented with neonatal neurological pathology. These newborn were studied as to the age of the mother at the birth time, Apgar rate, weight and cephalic perimeter at the birth time, probable etiologies, and clinical picture and evolution. These newborn were compared to control groups and the results were discussed on the grounds of literature. Out of 100 newborn with neurological pathology, 65% presented with pathological neurological examination and 35% with normal neurological examination. The 65 newborn with pathological neurological examination had hypotonia, decreased deep tendon reflexes, decreased or absence of superficial reflexes in 40 cases. Hyperactivity, hypertonia and tremors were observed in 25 cases. Coma was present in 6 of these newborn with apathy and hypotonia. Seizures were present in 41 cases. EEG was performed in 29 of these 41 cases in the first five days of life. The EEG was normal in 15 (51.7%) newborn and it was pathologic in 14 (48.3%) newborn. The 100 newborn had the following diagnosis: 37 birth anoxia, 13 hemorrhages, 24 meningitis, 14 metabolic seizures, 4 sepsis, 1 kernicterus, 2 chromosomopathies, 3 malformation, 1 cerebral palsy, and 1 congenital rubeola. Out of the 37 newborn with birth anoxia, 20 (54.1%) had a good evolution, 7 (18.9%) had sequela and 10 (27.0%) died. Out of 13 newborn with hemorrhages 2 (15.4%) had a good evolution, 5 (38.5%) had sequela, and 6 (46.1%) died. Out of 24 newborn with meningitis, 18 (75.0%) had a good evolution, 5 (20.8%) had sequela, and 1 (4.2%) died. Out of 58 newborn with a good evolution, 30 had normal newborn neurological exam, and 28 had transient alterations. Out of 23 newborn who presented with sequela later on, only 5 had normal newborn neurological exam. All the 19 who died, had pathological newborn neurological exam.
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PMID:[Neurological pathology in the newborn infant]. 653 54

The incidence of botulism remains high. This disease is burdened by a high lethality rate. It is of significant importance for the patient that therapy is instituted sufficiently early. Botulism is an intoxication with the toxin of Clostridium botulinum. In babies, botulism can be caused also by peroral infection with the bacteria or spores. It appears that intestinal germination to toxin-forming bacteria can occur in babies only. Since honey is very frequently contaminated with Clostridium botulinum spores, honey should be eliminated from baby food. The signs manifested in botulism in infants are similar to those in somewhat older children and adults: increasing muscular hypotonia, apathy, pareses of the cranial nerves, and, finally, respiratory insufficiency through paresis of the respiratory musculature. The authors report on their own observations in cases of botulism, and on current possibilities of treatment.
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PMID:[Diagnostic and therapeutic problems of botulism in infants (author's transl)]. 706 83

A female newborn, the second child of healthy non consanguineous parents, exhibited muscular hypotonia, areflexia, apathy, seizures, hepatomegaly and failure to thrive since birth. The peculiar skull shape was lacking. In the urine pipecolic acid and trihydroxycoprostanoic acid were excreted. At the age of seven weeks she died of bronchopneumonia. Lightmicroscopy revealed malformations and deficiency of myelinisation in the brain, renal cysts and fatty metamorphosis in the enlarged liver, which showed only minimal siderosis. Ultrastructurally no peroxisomes could be found in liver and kidney. No peroxisomes were detected by histochemical demonstration of catalase in frozen liver tissue which was taken immediately after death and stored for three months. Absence of peroxisomes is pathognomonic for the cerebro-hepato-renal syndrome of Zellweger and occurs in the liver irrespective of duration and degree of liver damage. It is best demonstrated by enzymehistochemical electron microscopy. With this method peroxisomes can be visualized even 30 h post mortem. In deep frozen normal liver tissue the activity of catalase remains very stable and enables the identification of peroxisomes even after a 12 months period of storage. In the cerebro-hepato-renal syndrome of Zellweger, frozen liver tissue should be stored for biochemical and diagnostic enzymehistochemical studies.
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PMID:[Morphology and diagnosis of Zellweger syndrome. A contribution to combined cytochemical-finestructural identification of peroxisomes in autopsy material and frozen liver tissue with case report]. 734 41

Comprehensive data on 30 patients with propionic acidaemia, diagnosed by selective screening for inborn errors of metabolism, are presented. The most valuable diagnostic metabolites found were methylcitric-, 3-hydroxypropionic-, and 2-methyl-3-oxovaleric acids. Hyperlysinaemia and hyperlysinuria are also characteristic findings in this disease. The metabolic pattern found in propionic acidaemia is discussed extensively as are enzymatic findings. Residual activity of propionyl-CoA carboxylase is neither a predictive marker for severity nor for outcome of the disease. Propionate fixation assays were less reliable for confirmation of propionic acidaemia and of no prognostic value. Clinical presentation of the disease is discussed in detail. Besides the well-known unspecific findings (poor appetite, feeding difficulties, vomiting, dehydration, weight loss, muscular hypotonia, dyspnoea, somnolence, apathy, convulsion, coma, severe metabolic acidosis, hyperammonaemia) various skin abnormalities have been detected in about 50% of all patients. In 27% "dermatitis acidemica" was found.
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PMID:Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients. 795 90

A 3-year-old girl with left hemiparesis suffered from bilateral paresis, motor rigidity, gait disturbance, axial hypotonia, dysarthria, apathy, and incontinence. After steroid therapy, mild improvement occurred, but muscle weakness, gait disturbance, and rigidity remained. Leigh encephalopathy was excluded on the basis of muscle biopsy and laboratory findings. Computed tomography and serial magnetic resonance imaging at an early stage revealed right-sided dominant lesions in the putamen and caudate nucleus and later bilateral striatal lesions, appearing as hyperintense signals on T2-weighted images and mixtures of hypo- and hyperintense signals on T1-weighted images. This is the first demonstration of serial magnetic resonance imaging findings in infantile bilateral striatal necrosis.
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PMID:Serial MRI in infantile bilateral striatal necrosis. 802 66

We describe the electrophysiological findings in 2 infants with deficient cobalamin intake. After normal development, psychomotor regression appeared after the 6th month, leading to severe hypotonia and apathy before the 12th month. Electrodiagnostic evaluation showed sensory neuropathy in both cases, associated with motor neuropathy in 1 case. Thus, in an acquired floppy infant syndrome, electrophysiological signs of peripheral neuropathy contributed to the diagnosis of a curable metabolic disorder.
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PMID:Neuropathy in two cobalamin-deficient breast-fed infants of vegetarian mothers. 1002 38


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