Last modified: 2014-04-03
Abstract
We present a case of 6 months old female child who was born of nonconsanguineous marriage.She had normal neurodevelpment till the age of 6 months.
On administration of top feeding with high protein formula,she develped respiratory distress followed by altered sensorium.She developed severe dystonia of both limbs.She had severe acidosiswith moderately high lactate and ammonia.Her blood sugar was withi normal rangewith normal range of all electrolytes.She was treated as metabolic acidosis with plenty of dextrose combind with insulin drip.MRI showed symmetrical lesions in globus pallidi which showed elevated choline and lactate peakon MR spectroscopy.There were puctate hemorrhages in right parietal rgion.Her tandem mass spectrometry showed very high C5 OH and urine gAS chromatography revealed metabolites of multipke carboxylase deficiency.Her biotinidase enzyme assay was 3 microgram/dl.
She was given biotin10 mg twice a day.initially, she was conscious with relief of dystoniashe developed fulminating fungal infection of intestine later on.
However she died of fulminating fungal septicemia.
Multiple carboxylase is a rare autosomal rcessive disorder which usally manifests in infancy.
Good outcome with Biotin is well known but it could be fulminant in few.Our case remindsto institute compulsory new born screening for metabolic disorders in the developing countries like India.
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References
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Bousounis DP,1993