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 case of CREST syndrome (calcinosis, Raynaud's phenomenon, esophageal hypomotility, sclerodactyly, and telangiectasia) that initially showed Raynaud's phenomenon, sclerodactyly and polyarthralgias, 3 years later completing the process, associated to sicca syndrome, is presented. The esophageal affectation showed a loss of peristalsis of the inferior 2/3, as well as hypotonia of the gastroesophageal sphincter. We comment the prognostic relationship between CREST syndrome and the centromeric region antibodies.
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PMID:[The CREST syndrome associated with the sicca syndrome]. 249 Oct 51

This report describes a male baby with primary hyperoxaluria type-1, presenting at 5 hours of age with cyanotic episodes, hypotonia, unexplained techypnea and tachycardia. This infant also had renal calcinosis, and middle cerebral arterial infarct with unilateral enlargement of ventricle and left porencephalic cyst on CT scan. The infant improved with diuretics, water supplementation, pyridoxine, and Albright solution.
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PMID:Primary hyperoxaluria type-1: an unprecedented presentation at birth. 1576 15

A term infant developed subcutaneous fat necrosis of the newborn (SFNN) 17 days following completion of therapeutic hypothermia for hypoxic ischaemic encephalopathy. Initial calcium was normal, however hypercalcaemia requiring hyperhydration and furosemide developed at 4 weeks. Parathyroid hormone and vitamin D were suppressed. At 13 months, she remains on low calcium formula, and has gross motor delay, central hypotonia and early hand preference. Review of 102 articles yielded 119 SFNN cases. Asphyxia was reported in 78%. Twenty-one per cent had hypoglycaemia. Twenty per cent underwent therapeutic hypothermia. Median onset of skin lesions was day 6 (range: 1-70), with a median duration of 62 days (range: 14-390). Hypercalcaemia developed in 53% (median onset day 28, range: 1-210). Fifty-two per cent of hypercalcaemia was asymptomatic. Outcome information was provided in 106/119 cases; 87% reported a full resolution. Persistent calcinosis was present in 6%. Babies treated with therapeutic hypothermia should be closely monitored for SFNN, and development of hypercalcaemia.
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PMID:Subcutaneous fat necrosis of the newborn. 3184 70