Brainstem and Spinal Cord Lesions Associated with Skin Changes and Hearing Loss: Think of Biotinidase Deficiency
Sébastien Cabasson, Serge Rivera,Samir Mesli,Elisabeth Dulubac
DOI: http://dx.doi.org/10.1016/j.jpeds.2014.11.023
Abstract
A 4-year-old girl presented with difficulties walking, photophobia, and, according to her family, a “strange behavior.” She was born of nonconsanguineous healthy French parents. Her past medical history was unremarkable. Neurologic examination showed slight ataxia but was otherwise unremarkable. Bilateral conjunctivitis was noted. Computed tomography of the brain, electroencephalogram, and laboratory findings including cerebrospinal fluid analysis were within normal limits. Her gait improved and she was discharged after 2 days.