Alopecia, Dermatitis and Seizures since Infancy: A Case of Biotinidase Deficiency

Abstract

Abstract Background: Biotinidase deficiency is a rare autosomal recessive metabolic disorder, having a wide spectrum of neurological, cutaneous, and immune-dysfunction-related clinical manifestations, which may be overlooked as common pediatric ailments. Clinical Description: A 2-year–7-month-old girl child, second born to third-degree consanguineous parents, presented with fast breathing and altered sensorium for a day, with a history of seizures and skin lesions since early infancy, developmental delay, and ataxia. Management and Outcome: Investigations revealed a normal septic screen, with metabolic acidosis which was unresponsive to therapy. After stabilizing the child with respiratory and vasopressor support, investigations for immunodeficiency were sent. Tandem mass spectrometry revealed increased C5OH levels, suggestive of holocarboxylase deficiency. Specific enzyme assay showed biotinidase activity deficiency. The child was initially empirically treated with metabolic cocktail comprising carnitine, biotin, thiamine, C0-enzyme Q10, and riboflavin, followed by specific therapy with biotin. The child showed dramatic clinical improvement and normalization of blood gas. Treatment has been advised lifelong with biotin supplementation. Conclusion: Careful observation by a pediatrician can identify the typical combination of clinical features in a child, suggestive of biotinidase deficiency. Evaluation and management of the condition are simple and rewarding.