Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old Boy
Olga Shchagina,
Vera Kurilova,
Elena Zinina
et al.
Abstract:We present a case of a combination of two rare hereditary disorders: obesity, adrenal insufficiency and red hair syndrome (OBAIRH) and Duchenne muscular dystrophy (DMD) in a boy. Both diseases were diagnosed during the first year of life. OBAIRH was suggested based on the ethnicity and family history of the patient, while DMD was based on an extreme increase in transaminase and CK (creatine kinase) levels during a biochemical analysis of his blood. The OBAIRH syndrome was caused by a pathogenic homozygous vari… Show more
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