Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0030552 (paresis)
 5,831 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

For two years after surgical small-intestine duplication a 9-year-old boy with the short bowel syndrome had recurrent acidosis which caused severe failure to thrive. During the acidotic crises he had behavioural disorders, unsteady gait, indistinct speech, lid raising weakness with vision paresis and occasional somnolence. These signs disappeared after the aciduria had been treated with high doses of bicarbonate. D-lactic acidosis was finally diagnosed by simultaneously determining D-lactate (8.9 mmol/l [normal < 0.5]) and L-lactate (1.4 mmol/l [normal < 1.78]) during an episode of aciduria (pH 7.3, base excess -11.8 mmol/l). Further acidotic crises were prevented by a carbohydrate-modified diet, on which he gained 8 kg in one year.
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PMID:[Recurrent D-lactic acidosis with encephalopathy in a boy with short-bowel syndrome]. 815 69

Juvenile myelomonocytic leukemia (JMML) is a distinct myeloproliferative malignancy of early childhood with a varied clinical presentation that may include failure to thrive, malaise, fever, bleeding, pallor, lymphadenopathy, and hepatosplenomegaly. Skin, pulmonary, and gastrointestinal involvement have also been reported. There are no reports of central nervous system (CNS) involvement at diagnosis of this disease. This is a report of a 21-month old boy who had a right facial paresis at presentation. A brain mass was demonstrated on magnetic resonance imaging and cerebrospinal fluid analysis confirmed CNS leukemic infiltration. We report the presence of CNS infiltration as a part of the natural course of JMML and provide a review of the literature.
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PMID:Juvenile myelomonocytic leukemia presenting with facial nerve paresis: a unique presentation. 1798 96