Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In developing countries, a deficiency of cobalamine and folate contributes significantly to megaloblastic anaemia. Neurological observations in infants and young children with megaloblastic anaemia have included hypotonia, developmental regression, tremors and other abnormal movements. Following therapy with vitamin B12, coarse tremors occurred in six of 51 patients (12%) with megaloblastic anaemia. The tremors, which were noticed initially in the hands and feet, gradually became generalised and disappeared during sleep. They subsided within 5-11 days. Thirteen of 25 (52%) patients developed thrombocytosis between day 3 and week 5 of follow-up. In one child, the platelet count increased to >1300 x 10(9)/L. The importance of recognising these clinical findings during treatment of megaloblastic anaemia is emphasised.
 ...
PMID:Tremors and thrombocytosis during treatment of megaloblastic anaemia. 1670 27

A 4-month-old male infant was brought to the emergency department because of striking petechial skin lesions and acrocyanosis. Routine hematology revealed leukocytosis and thrombocytosis and the infant was admitted for further investigations. Laboratory findings showed no evidence of infection, and a bone marrow aspirate demonstrated a normal number of immature cells of all lineages. Coagulation and routine biochemistry analyses were within the normal range. Three months later, the infant developed signs and symptoms of encephalopathy with episodes of hypotonia and an altered state of consciousness. A brain magnetic resonance imaging suggested the possibility of an inborn error of metabolism. The urinary organic acid and acylcarnitine profile indicated ethylmalonic encephalopathy. Mutation analysis of the ethylmalonic encephalopathy 1 (ETHE1) gene confirmed the diagnosis of ethylmalonic encephalopathy at the molecular level.
 ...
PMID:An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder. 2280 53