Celiac Disease Presenting with Biotinidase Deficiency and Paraplegia

Excerpt

To the Editor: A 5-y-old girl was admitted to the pediatric metabolism clinic with complaints of inability to walk, strabismus, and back pain. The past medical history was uneventful up to 5 y of age. There was no consanguinity between the parents. Upon detection of 3-hydroxyisovalerate in the urine organic acids, and hyperintensities in the T2-weighted image of the periaqueductal region and the cervical spinal cord posterior column in cranial and spinal magnetic resonance imaging (MRI) (Figs. 1a and 2a), biotinidase activity was measured and found to be very low (4 %), confirming the diagnosis of complete biotinidase deficiency (BD). Since the patient had complete BD, genetic analysis was not considered as necessary [1]. The patient’s clinical and laboratory data at baseline and after 6 and 15 mo of treatment are shown in Table 1. Glucose, ammonia, creatine kinase and blood gas analysis were normal. Lifelong biotin replacement at a dose of 10 mg/d was started. Upon inadequate weight gain and percentile loss in follow-up, the celiac serology was studied and found to be positive with an anti-tissue transglutaminase IgA of 227 EU/ml (positive ≥25 EU/ml). Duodenal biopsy revealed increased focal intraepithelial CD3-positive lymphocytes confirming the diagnosis of celiac disease. A gluten-free diet was started 15 mo after the commencement of biotin replacement. Weight gain and percentile recovery were noticed after the diet (Table 1). A significant decrease in the periaqueductal and the posterior cervical spinal cord hyperintensities were observed on repeat MRI taken 6 mo after biotin treatment (Figs. 1b and 2b). Biotinidase activity fluctuated between 2.83 and 30 % after the diet.

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