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)

Certain common but seldom recognized clinical features of renovascular hypertension peculiar to infancy are emphasized in this communication from the observations made in a 9-month-old infant. Failure to thrive, extreme irritability, hypotonia, anorexia, vomiting, diarrhea, respiratory distress, and congestive heart failure are common clinical findings. Unless the physician is aware of this symptomatology or blood pressure is routinely obtained in all infants, the condition is likely to be missed. Renovascular hypertension is malignant and carries a high mortality but if diagnosed early may be cured by surgical intervention.
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PMID:Clinical features of renovascular hypertension in infancy: report of a 9-month-old infant. 115 42

Fourteen new cases of cytochrome oxidase (COX)-associated Leigh syndrome (LS) are combined with 20 reported cases to describe the clinical, laboratory, and radiological features of this devastating metabolic condition. Three clinical stages are identified. Most patients have normal neurological development during the first 8-12 months (stage I). Somatic complaints are common, including chronic diarrhea, recurrent vomiting, anorexia, and decelerating body and head growth. The second stage evolves during late infancy and early childhood when motor regression becomes evident. Eye signs, altered breathing patterns, pyramidal, extrapyramidal, and cerebellar signs emerge and sudden clinical deterioration occurs during intercurrent infectious or metabolic stress. The last stage may extend from 2 to 10 years and is manifested by extreme hypotonia, swallowing difficulties and undernutrition. Feeding assistance is necessary and seizures may occur. The CSF lactate concentration is consistently elevated and MRI abnormalities are seen in the subcortical structures. COX deficiency affects most tissues, but is not always generalized. For example, 3 patients with a cardiomyopathy had normal COX activity in cultured skin fibroblasts. Nearly normal amounts of cross-reacting material are present by ELISA and immunoblot analyses. Parental consanguinity has been found in several families, the hereditary pattern is recessive and males are affected more commonly (2:1). The biomolecular abnormality causing COX deficiency in LS is unknown, but the available evidence implicates a nuclear-encoded protein that affects the structure or the stability of the holoenzyme complex.
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PMID:Cytochrome c oxidase-associated Leigh syndrome: phenotypic features and pathogenetic speculations. 165 84

This report describes a toddler with chronic diarrhea, vomiting, and hypotonia due to surreptitious administration of syrup of ipecac by his mother (Munchausen's syndrome by proxy). Several features of this case distinguish it from previous reports of chronic ipecac ingestion in childhood: the development of grossly bloody stools; radiologic, endoscopic, and biopsy evidence of a chronic moderate colitis resembling ulcerative colitis; and the histologic finding of pseudomelanosis coli, providing an important clue to toxic ingestion. The significance and possible mechanism for genesis of pseudomelanosis coli is discussed. This case emphasizes the variability in presentation and difficulty in diagnosing long-term ipecac ingestion by proxy. Ipecac toxicity should be considered in children with unexplained colitis and vomiting.
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PMID:Hemorrhagic colitis and pseudomelanosis coli in ipecac ingestion by proxy. 167 9

Four female Mexican-American infants, two siblings, had widespread deposit of hyaline material in skin, gastrointestinal tract, adrenals, urinary bladder, ovaries, skeletal muscles, thymus, parathyroids, and other loci. Clinical features included thickness and focal nodularity of skin, relatively short limbs and neck, gum hypertrophy, hypotonia and reduced movement, joint contractures, osteoporosis, growth failure, diarrhea, and recurrent infections. Clinical onset was in the first week, and all 4 patients died by age 20 months. Infantile systemic hyalinosis appears to be a specific, presumably autosomal recessive, genetic disease, differing from the disorder called systemic hyalinosis, juvenile hyaline fibromatosis, or Puretic syndrome. The biochemical defect and the pathogenetic mechanisms responsible for the pathologic and clinical features of this condition remain to be established.
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PMID:Infantile systemic hyalinosis: report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis. 243 38

A boy, born to a mother with AIDS related complex, was immunised with BCG on the 10th day of life. At the age of 4 months he presented with a local enlarged lymph node, fever, hypotonia, and diarrhoea. Mycobacterium bovis, BCG strain, was grown from the lymph node and cerebrospinal fluid; this proved dissemination.
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PMID:Disseminated BCG in HIV infection. 319 57

In the surgical treatment of gastric ulcer (G,U,), the same techniques have been employed as have been used in duodenal ulcer (D.U.). This correspondence also holds true with superselective vagotomy and proximal gastric vagotomy (P.G.V.). The technique was primarily indicated in the treatment of D.U. and had very exciting preliminary results, above all owing to its reduced morbidity both immediately and late after surgery, and to its almost null mortality. With a view to analyzing the results of the use of P.G.V. in the treatment of gastric ulcer, thirteen patients were operated upon who were bearers of G.U. not associated with D.U. nor prepyloric ulcer. There were no operating accidents or immediate post-operative complications, nor was there any mortality. In the post-operative period following lasting an average of 17.7 months, we observed the clinical manifestation of the ulcer and symptoms accompaning the operation in addition to performing endoscopy on all of the patients. Eight patients were absolutely asymptomatic after surgery; one had slight dysphagia that diminished about 3 months after P.G.V. Three patients had recurrence of the symptoms of ulcer and one complained of intense epigastric fullness, vomting, weight loss, and a crisis of diarrhea. Radiologic and endoscopic examinations showed that this last patient had hypotonia and marked gastric stasis that were corrected surgically by means of antrectomy and the reconstitution of GI tract by the BI technique, with good results. In three patients endoscopy showed postoperative recurrence of the G.U., one of whom is assymptomatic with the clinical treatment; the other two were submitted to antrectomy with BI anastomosis in one and a 2/3 gastrectomy with BI reconstruction in the other. The cure of the lesion in 23% of the cases in the post-operative follow-up lasting an average of 17.7 months permits us henceforward to contra-indicate the P.G.V. used per se for the treatment of G.U.
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PMID:[Critical analysis of the treatment of gastric ulcer by proximal gastric vagotomy]. 666 Oct 91

Phosphorus depletion in malnutrition has not generally received attention. Serum phosphorus was measured in healthy infants (1.8 mmol/L), in well-nourished infants with acute dehydrating gastroenteritis, and in infants suffering from malnutrition. Serum phosphorus levels were found to be low in well-nourished infants with acute dehydrating gastroenteritis (1.32 mmol/L) an exceptionally low in infants with kwashiorkor (1.10 mmol/L) especially when the latter condition was accompanied by severe diarrhoea (0.66 mmol/L). Hypophosphatemia, as well as hypokalemia, was associated with marked hypotonia. Low levels of serum phosphorus occurred in nine of the 10 malnourished children who died.
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PMID:Serum phosphorus in protein energy malnutrition. 682 Nov 15

Early clinical symptoms were analyzed from all known 43 children with aspartylglucosaminuria, born during 1974-1989 in Finland. Pre- and perinatal histories appeared normal for all children, except for muscular hypotonia and weak sucking in some babies. Three infants had abduction stiffness in the hips, needing follow-up. Other abnormalities found in infancy were umbilical or inguinal hernias and unusual susceptibility to respiratory and ear infections. This susceptibility diminished clearly in most patients after six years of age. Episodic diarrhea, described earlier, appeared to be a rather infrequent symptom and a less valuable diagnostic clue. New clinical phenomena were talipes planovalgus or clubfoot, needing surgical treatment, and aggressive behavior, needing, occasionally, child psychiatric consultation or treatment. In addition, angiokeratoma of the skin, not an infrequent phenomenon among adult patients, was found in one child. The main indications for further studies were delayed speech, attention deficit and clumsy or delayed motor functions. The disease is easily misdiagnosed and, universally, probably underdiagnosed. Its incidence in Finland was recalculated and appeared to be at least 1 in 18,500 live-born babies in this country.
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PMID:Early clinical symptoms and incidence of aspartylglucosaminuria in Finland. 833 96

Two neonates with a history of diarrhea, abrupt apnea, and suspected sepsis were proved to have infantile botulism. Initial symptoms in both infants suggested other diagnoses. Electrophysiologic studies were important in confirming the diagnosis. Early severe infantile botulism may be rare but should be considered in neonates who have hypotonia and respiratory arrest or a sepsis-like clinical picture.
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PMID:Early severe infantile botulism. 828 69

To delineate further the clinical spectrum of Menkes disease, an X-linked recessive disorder of copper transport, we studied 4 related males, ranging in age from 4-38 years, with a unique phenotype that combines manifestations of classical and mild Menkes disease and occipital horn syndrome (OHS). The propositus, and 18-year-old man, was evaluated following an intracerebral hemorrhage at age 15 years and was noted to have marked hypotonia, motor delay with mental retardation, bladder diverticula, failure to thrive, and diarrhea from infancy; seizures from age 3 years; and abnormal hair (pili torti) and face, cutis laxa, and multiple joint dislocations. Radiographic abnormalities included occipital exostoses, tortuous cerebral blood vessels with multiple branch occlusions, and hammer-shaped clavicles. Biochemical studies demonstrated reduced copper and ceruloplasmin levels in serum, and abnormal plasma catecholamine ratios. We reported previously the molecular defect in this family, a splice-site mutation that predicts formation of approximately 20% of the normal Menkes gene product [Kaler et al., 1994: Nat Genet 18:195-202]. Here, we detail the clinical course and physical features and radiographic findings in these 4 individuals, and compare their phenotype with classical and mild Menkes and OHS. Unusual Menkes disease variants such as this may escape recognition due to anomalies that appear inconsistent with the diagnosis, particularly prolonged survival and later onset of seizures. Males with mental retardation and connective tissue abnormalities should be evaluated for biochemical evidence of defective copper transport.
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PMID:Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype. 891 40


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