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)

We are describing two male siblings with proximal renal tubular insufficiency, cholestatic jaundice, predisposition to infection, and multiple congenital anomalies. These patients presented in the early neonatal period with micrognathia, low set ears, high arched palate, barrel shaped chest, bilateral simian creases, club feet, congenital hip dislocation, hypotonia, conjugated hyperbilirubinemia, repeated infections, and severe failure to thrive. They died at the age of 2 and of 4 months despite medical therapy. Findings of renal tubular insufficiency included persistent renal tubular acidosis, glucosuria, phosphaturia, aminoaciduria, and mild proteinuria. Kidney biopsy, liver biopsy, and a comprehensive immunologic investigation were performed on the first sibling. Kidney histology was normal except for calcification of some distal tubules. Liver biopsy revealed paucity of bile ducts, bile stasis, and some inflammatory cell infiltration. Immunologic investigation suggested a defect in polymorphonuclear cell migration and intracellular killing. Review of the literature revealed remarkably similar findings in two previously reported male siblings. These four cases probably represent a previously unrecognized familial syndrome. The possible etiology and mode of inheritance of this syndrome are discussed, and the association of hepatic and renal tubular dysfunction is reviewed.
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PMID:Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies--a new multisystem syndrome. 654 56

Two siblings with Zellweger's cerebro-hepato-renal syndrome are reported. The two children both had multiple anomalies associated with Zellweger's syndrome such as characteristic facial appearance, cerebral dysfunction, muscular hypotonia, liver abnormalities, failure to thrive, marasm and early death. One of the children, a girl, lacked several anomalies that were present in her brother. In one of the children bile acid analysis was performed by use of gas chromatography-mass spectrometry. 3 alpha,7 alpha,12 alpha-trihydroxy-5 beta-cholestanoic acid (THCA) and varanic acid, both precursors of cholic acid, were found. The defect bile acid synthesis may be due both to liver mitochondrial abnormalities and to the absence of liver peroxisomes, conditions known to occur in Zellweger's syndrome.
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PMID:Zellweger's cerebro-hepato-renal syndrome--variations in expressivity and in defects of bile acid synthesis. 665 41

In addition to the intracytoplasmic rods in approximately 1/4 muscle fibers, there were a large number of fibers with fetal muscle characteristics in a female infant who had severe muscle weakness and hypotonia, and failure to thrive since birth. A histochemical examination disclosed abnormal distribution in muscle fiber types including remarkable type 1 fiber predominance and increased number of type 2 C fibers (11.4%). Scattered throughout were fibers consisting of multiple myocytes enclosed in a single basement membrane, and small-calibered fibers containing abundant intermediate (skeleton) filaments and dispersed microtubules. Both were histologically identical to premature fibers found in the fetal muscle. The existence of an increased number of satellite cells as compared with age-matched controls was also suggestive of delayed or arrested muscle fiber maturation. A certain impaired neural influence upon the developing muscle is probably responsible for producing abnormal fiber type distribution and immature small-calibered fibers which account for small muscle bulk and muscle weakness in nemaline myopathy.
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PMID:Fetal muscle characteristics in nemaline myopathy. 668 87

A six-year-old boy presented with a history of seizures, progressive neurologic deterioration, and proteinuria. Physical examination revealed mildly coarse facies, failure to thrive, generalized hypotonia with muscle wasting, and optic atrophy; there was no organomegaly. The family history suggested an X-linked recessive inheritance. The electroencephalogram, electroretinogram, evoked potentials, and computed axial tomography of the brain were abnormal. Urine oligosaccharide chromatography, urine amino acids and organic acids, and results of leukocyte and fibroblast lysosomal-enzyme assays for the known storage diseases were normal; however, conjunctival and renal biopsy specimens contained enlarged lysosomes on electron microscopy. The patient had progressive neurologic deterioration and died of renal failure at eight years of age. A compound identified as glutamyl ribose-5-phosphate was purified from the brain (0.96 mumol per gram, wet weight) and kidney (0.60 mumol per gram, wet weight). This compound is the linkage group in ADP-ribosylation of proteins, an important regulatory process in gene expression and DNA repair. We believe this new disorder represents a glycoproteinosis that results in the cytoplasmic storage of glutamyl ribose-5-phosphate.
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PMID:Progressive neurologic deterioration and renal failure due to storage of glutamyl ribose-5-phosphate. 673 1

Familial occurrence of cerebral malformations with muscular dystrophy was described by Fukuyama as congenital cerebromuscular dystrophy. We have observed a new syndrome belonging to the same group in three siblings. These syndromes differ in the degree of CNS involvement and abnormalities in the eye. The main clinical characteristics of our cohort were dysmorphic face, hypotonia, areflexia, failure to thrive, corneal opacity, cataract, dysgenesis of the anterior chamber of the eye, and death within the 1st year of life. Hydrocephalus and agyria were verified by computed tomography. Neuropathologic examination demonstrated malformations of the CNS. The agyric hemispheres with polymicrogyria in several cortical segments and severe cortical disorganization in other segments represented the principal anomaly. Congenital muscular dystrophy was also found. The CNS anomalies demonstrated a long-lasting pathologic process extending to involve the eye and muscle, which is most likely an inborn error of metabolism with autosomal recessive inheritance.
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PMID:Cerebro-oculo-muscular syndrome: a variant of Fukuyama congenital cerebromuscular dystrophy. 682 Mar 33

A 15-month-old girl with propionic acidemia presented a failure to thrive and muscular hypotonia, who had been treated with diets low in leucine, valine, isoleucine, threonine and methionine. Supplementation with leucine gave her a catch up growth and brought about an improvement in muscular hypotonia in parallel with restoration of plasma leucine which had been below normal range during the treatment with the above diets. Oral loading test of leucine produced no ketoacidosis. These findings indicate that the restriction of leucine is not necessary in the dietary management of propionic acidemia.
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PMID:Dietary therapy in a girl with propionic acidemia: supplement with leucine resulted in catch up growth. 686 77

Growth charts of five children with Prader-Labhart-Willi syndrome were examined. Clinical diagnosis was based on usual features of this condition. These included hypotonia in infancy, obesity, mental retardation, short stature, undescended testes in boys and typical physical features. Extensive investigations have failed to reveal pathognomonic abnormalities in this syndrome. Obesity and failure to thrive, beginning in early infancy and increasing with age is a precocious and typical feature. This pattern helps to early diagnosis. Only congenital hypothyroidism could show a similar pattern.
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PMID:[Body growth in the early diagnosis of Prader-Labhart-Willi syndrome]. 687 76

Between 1977 and 1979, 12 cases of infant botulism were diagnosed in Utah, and 87 control patients (normal, nonbotulism neurologic disease, and nonbotulism systemic disease) were evaluated. Observations from these patients suggest an expanded clinical spectrum of infant botulism including asymptomatic carriers of organism; mild hypotonia and failure to thrive; typical cases with constipation, bulbar weakness, and hypotonia; and children with a picture compatible with sudden infant death syndrome. Clostridium botulinum was isolated from the stools of three normal control infants and nine control infants who had neurologic diseases that were clearly not infant botulism. These infants were termed "asymptomatic carriers" of the organism. The occurrence of the asymptomatic carrier state suggests that a diagnosis of infant botulism cannot be made on a basis of culture results alone, but must rest in historical documentation and physical confirmation of progressive bulbar and extremity weakness with ultimate complete resolution of symptoms and findings over a period of several months. A common set of environmental features characterizes the home environment of children with infant botulism and "asymptomatic carriers" and includes: nearby constructional or agricultural soil disruption, dusty and windy conditions, a high water table, and alkaline soil conditions.
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PMID:Infant botulism: clinical spectrum and epidemiology. 700 56

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

We found an abnormal 47,XX,+mar karyotype in a patient with developmental delay, hypotonia, microcephaly, failure to thrive, and cognitive delay. When metaphases were hybridized with Prader-Willi and Angelman loci-specific probes by the FISH technique, two sites were noted at opposite positions on the marker chromosome. The alphoid satellite DNA probe documented the isodicentric nature while retention of the p arms on both sides of the marker chromosome was demonstrated by beta satellite probe. The patient does not exhibit manifestations of either syndrome despite the presence of these loci in tetrasomic dose. The present investigation suggests that other marker chromosomes be reevaluated, as their clinical manifestations are quite variable.
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PMID:Two Prader-Willi/Angelman syndrome loci present in an isodicentric marker chromosome. 752 Nov 22


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