Shchagina, O.; Kurilova, V.; Zinina, E.; Porubov, V.; Efishova, S.; Polyakov, A. Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old Boy. Int. J. Mol. Sci.2023, 24, 12357.
Shchagina, O.; Kurilova, V.; Zinina, E.; Porubov, V.; Efishova, S.; Polyakov, A. Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old Boy. Int. J. Mol. Sci. 2023, 24, 12357.
Shchagina, O.; Kurilova, V.; Zinina, E.; Porubov, V.; Efishova, S.; Polyakov, A. Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old Boy. Int. J. Mol. Sci.2023, 24, 12357.
Shchagina, O.; Kurilova, V.; Zinina, E.; Porubov, V.; Efishova, S.; Polyakov, A. Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old Boy. Int. J. Mol. Sci. 2023, 24, 12357.
Abstract
We present a case of a combination of two rare hereditary disorders: Аdrenal insufficiency, obesity, 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 – based on an extreme increase in transaminase and CK levels during biochemical analysis of his blood.
Keywords
OBAIRH; DMD; double trouble; POMC
Subject
Medicine and Pharmacology, Other
Copyright:
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