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 have studied three children with de novo terminal deletion of the long arm of chromosome 1 (46,XX,del(1)(q43)). They all have minor anomalies and neurological signs (severe psychomotor developmental delay, generalized hypotonia, and seizures) that have been described previously. In addition, all of these three patients have autistic-like behavior. They avoid eye contact, show no interest in people, express little emotion, and repeat stereotypic movements such as head nodding and purposeless finger manipulation. They also spend excessive time in making unusual sounds consisting of a high-pitched shrill cry with little intonation in infancy and a harsh, strained, and glottal stridency in later life. They make no labial, lingual, or nasal sounds. We suggest that these observations may be unique clinical manifestations of certain terminal 1q deletions.
Am J Med Genet 1991 Sep 15
PMID:Neurological aspects of del(1q) syndrome. 174 17

A case of neonatal hemochromatosis in a 3-hour-old male is described. He presented with hypotonia, mild jaundice, and respiratory difficulty immediately after birth. He had no evidence of congenital infection, immune-related hemolysis or exogenous iron uptake. Postmortem examination revealed abnormal facial features. The organs were of normal weight for his age except a small liver and lungs, and a large spleen. The most prominent changes were in the liver and pancreas. The liver was coarsely nodular and fibrotic. The lobular architecture was totally distorted by innumerable multinucleated giant cells, loss or collapse of the hepatocytes, and diffuse fibrosis. A large amount of hemosiderin was seen in the liver, pancreatic acini and thyroid follicular cells. Scanty amount of hemosiderin was also found in the myocardial fibers and renal tubular cells. The pancreas showed hyperplasia and hypertrophy of the islets. The spleen showed severe congestion and a moderate extramedullary hemopoiesis but no deposits of hemosiderin. This patient had three siblings died in neonatal period, one of which had clinical features of neonatal hemochromatosis.
J Korean Med Sci 1991 Sep
PMID:Neonatal hemochromatosis--report of an autopsy case. 177 32

The authors report a seven-month-old boy with severe hypotonia, poor spontaneous movements, breathing difficulties and recurrent respiratory infections, dysmorphisms and a peculiar movement disorder: minipolymyoclonus (MPM), previously reported only in spinal muscular atrophies. MPM is characterized by nonrhythmic myoclonic jerks associated with a rhythmic tremor of the extended fingers polygraphically detected. A muscle biopsy showed pathological changes typical of congenital nemaline myopathy (CNM). The relationship between MPM and CNM may be explained on the presumptive basis of the "neurogenic" nature of this congenital myopathy or by the non-specificity of this clinical sign.
Brain Dev 1991 Sep
PMID:Minipolymyoclonus in congenital nemaline myopathy: a nonspecific clinical marker of neurogenic dysfunction. 178 61

The paper reviews literature data on the incidence of pulmonary hemorrhage (PH) in various diseases (tuberculosis, chronic nonspecific lesions of the lungs, cancer); presents new evidence on PH pathogenesis, an underlying role of pulmonary hypertension and aneurysmic vascular rearrangement of the affected site. The system to control PH is staged and implies measures to achieve temporary and final arrest of bleeding. These are to promote enhancement of coagulation, inhibition of fibrinolysis, include endobronchial and endovascular hemostasis, radical surgery. A detailed description covers a technique of artificial controlled hypotonia under drug ganglionic blockade.
Klin Med (Mosk) 1991 Sep
PMID:[Methods for the control of pulmonary hemorrhage]. 180 67

We concur with the idea that congenital muscular dystrophy (CMD) is a distinct clinical entity, and report 17 patients (2 negroes and 15 whites; 12 M and 5 F; median age 6 years, range 1 to 24 years) with genetic, clinical, laboratorial, electrophysiological and histochemical studies. All our cases have an inheritance compatible with an autosomal recessive pattern. A decrease in fetal movements was reported by 57% of the mothers, generalized hypotonia at birth was present in 82%, limb girdle and neck weakness, absent or decreased deep tendon reflexes, and limb contractures were present in all. Severe muscular wasting was found in 41%. Calf pseudo-hypertrophy was observed in one patient. A patient was severely mentally retarded and another was borderline. During a 30-month follow-up, the muscle weakness of the majority remained essentially unchanged but the degree of motor activity deteriorated and was proportional to the worsening of the limb contractures. Serum CK levels were normal or increased to a maximum of 8 times. The electromyogram was myopathic in 74%, neurogenic in 13% and normal in 13%. CT scans showed a symmetrical white matter hypodensity in the hemispheres in 8 cases. All but 5 patients were operated upon to release the limb contractures and all were submitted to physical therapy. The contractures recurred in 4 patients submitted to surgery and were probably related to the cessation of physical therapy.
Arq Neuropsiquiatr 1991 Sep
PMID:[Congenital muscular dystrophy: clinical study of 17 patients]. 180 25

Myopathy may be associated with the syndrome of seroconversion in individuals infected by the human immunodeficiency virus (HIV) or may represent the initial symptom of AIDS. In 1990, 39-year old white, single homosexual who was admitted 1 month prior had experienced an episode of edema and pain in the left thigh that faded with the use of nonhormonal antiinflammatory drugs. 15 days later both forearms became enlarged accompanied by pain and erythema. Erythromycin and cefalexine were used without success. Intermittent fever started to appear before admission accompanied by dyspnea when straining. Examination showed tachypnea, oral candidiasis, and enlargement of both upper arms with pain and local erythema without articular involvement. Neurological examination revealed hypotonia and generalized hyperreflexia with intact muscle strength. Serology was positive for HIV, rheumatic activity tests were negative, and muscle biopsy indicated multifocal myonecrosis. Creatinine phosphokinase was 1019 IU (decrease to 44 IU after treatment), aldolase was 19 IU (decrease to 5.6 IU), and glutamic-pyruvic transminase was 50 IU (decrease to 22 IU). Radiography of the thorax indicated interstitial infiltration. Fiberoptic bronchoscopy indicated Pneumocystis carinii pneumonia. Sulfamethoxazole and trimetropim treatment cured the dyspnea and hypoxemia, but the enlargement of both arms progressed. Capillaroscopy indicated vasculitis that was treated without success with indomethacin (150 mg/day), for 7 days; prednisone (40-80 mg/day) for 10 days; and dexamethasone (280 mg/day) for 2 days. 6 days after methotrexate (50 mg/dose/week) treatment the fever disappeared and the enlargement in the extremities receded, but a lower dose of 7.5 mg caused the return of fever and edema in the right thigh. The myopathy remained asymptomatic for 5 months with a weekly dose of 15 mg of methotrexate.
Arq Neuropsiquiatr 1991 Sep
PMID:[AIDS and myopathy: report of a case and review of the literature]. 180 40

Two brothers presented with olivopontocerebellar atrophy of neonatal onset. The clinical features (failure to thrive, hypotonia, liver disease, effusions, and visual inattention) were similar to those of the four cases already reported, as were the necropsy findings of olivopontocerebellar atrophy, hepatic steatosis and fibrosis, and microcystic renal changes. The clinical similarities between this and the disialotransferrin developmental deficiency syndrome were noted. The characteristic abnormality of serum transferrin found in the latter syndrome was also found in the two cases reported here. We suggest that both syndromes are caused by the same, or related, defects in glycoprotein metabolism.
Arch Dis Child 1991 Sep
PMID:Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome. 192 7

A 5-month-old male infant was referred to us for evaluation of progressive hypotonia. He had growth retardation, feeding difficulty and general weakness. Brain sonography and computed tomography demonstrated symmetrical lesions in the caudate, lenticular nuclei, thalamus and hypothalamus, suggesting bilateral necrosis. Lactate and pyruvate levels in the blood and cerebral spinal fluid were persistently elevated. A biopsy of the quadriceps muscle showed increased subsarcolemmal mitochondrial enzyme activity on light microscopy. Electron microscopy of the muscle showed deformed and bizarre mitochondria. The patient eventually died at the age of 8 months. Autopsy showed bilateral necrotic foci in the caudate, lenticular nuclei, thalamus, hypothalamus, midbrain, and pons. Histopathologic findings included spongiform degeneration of the affected brain tissue. The characteristic clinical and pathological findings confirmed this case as subacute necrotizing encephalo-myelopathy of Leigh's type. To our knowledge, this is the first autopsy-proven case of Leigh's disease in Taiwan.
J Formos Med Assoc 1990 Sep
PMID:Subacute necrotizing encephalomyelopathy (Leigh's disease): report of a case. 198 41

In children there is a good effect of diazepam on convulsions after intravenous or rectal administration. This is not the case in neonates. We describe a newborn to whom diazepam was given because of a convulsion and who exhibited serious side effects: coma, hypotonia and feeding difficulties. We point out the risks of using diazepam in neonates.
Ned Tijdschr Geneeskd 1990 Sep 01
PMID:[Risks of diazepam in newborn infants]. 221 21

An 18 month old girl with partial monosomy for the long arm of chromosome 22 is described. The karyotype was 46,XX,del(22)(pter----q13.1::q13.33----qter). To our knowledge this is the first report of monosomy for this specific segment of chromosome 22. Clinical features include developmental delay in all areas, hypotonia, macrosomia, full cheeks, eyebrows, and eyelids, mild epicanthus, wide nasal bridge, long philtrum, and thick lower lip. Parental chromosome studies were normal.
J Med Genet 1990 Sep
PMID:Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter). 223 53


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