Two unusual clinical and radiological presentations of biotinidase deficiency.
Biotinidase deficiency is due to a defect in recycling of biotin and is a treatable autosomal recessive inherited disorder. We describe two cases with unusual presenting symptoms and rarely described MRI findings. We propose that the diagnosis of biotinidase deficiency should be considered when there are symmetrical MRI changes in the medial thalamus, dorsal brainstem, medulla and spinal cord as in our two cases. As long as there isn't newborn screening for biotinidase deficiency in the UK; increased awareness of this disorder and recognition of biotinidase deficiency as a cause of bilateral symmetrical MRI patterns similar to our patients, would facilitate early diagnosis and prevent many of the devastating neurological sequelae associated with missing the condition.
Department of Paediatric Neurology, Great Ormond Street Hospital for Children, NHS Trust, London, UK.
N
N
Mc Sweeney
S
S
Grunewald
S
S
Bhate
V
V
Ganesan
W K
WK
Chong
C
C
Hemingway
D028921:Biotinidase Deficiency / Q000175:diagnosis*; D001921:Brain / Q000473:pathology*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D013116:Spinal Cord / Q000473:pathology*