Cutaneous and neurologic manifestations of biotinidase deficiency

Abstract

A male newborn with no obstetric or familial antecedents, except that his parents were cousins, developed hypotonia, lethargy, and feeding problems from birth. Analysis revealed a marked metabolic acidosis and hyperammonemia. Three weeks later, he was admitted to hospital in order to receive parenteral nutrition and to undertake a study for metabolic diseases. The boy did not improve in spite of the use of parenteral nutrition and began to present with inspiratory stridor and tachypnea. One week later, he presented with an erythematous scaling eruption, which was especially intense in the lumbosacral region ( Fig. 1a,b ).The scalp was only slightly affected. Erythematous scaling eruption, more intense in the lumbosacral region image Laboratory findings were compatible with biotinidase deficiency diagnosed by demonstrating absent enzyme activity. His parents were also studied and they were found to have partial biotinidase deficiency (30% of enzyme activity). After 37 days of life, the baby was given a treatment consisting of 20 mg of biotin per day intravenously. Biochemical and neurologic alterations improved quickly. Meckel's diverticulum and a duodenal membrane were detected at the second month of life after a gastroduodenal survey, and both were operated on. The skin lesions did not improve, however, and intravenous biotin had to be increased to 40 mg/day. The eruption disappeared after 10 days. On his first birthday, he remained asymptomatic with 40 mg of oral biotin.