877 Muscle Carnitine Deficiency in a Patient with Persistent Neonatal Diabetes and Hypokalemia

Autor:	Pinar T. Ozand, L Koski, Judith V. McLaughlin, Noel K Maclaren, M Gumbinas, Marvin Cornblath, R Bejar
Rok vydání:	1978
Předmět:	Coma medicine.medical_specialty Proximal muscle weakness Photophobia business.industry Hypoglycemia medicine.disease Hypokalemia Surgery Neonatal diabetes mellitus Anesthesia Pediatrics Perinatology and Child Health Failure to thrive medicine medicine.symptom Myopathy business
Zdroj:	Pediatric Research. 12:510-510
ISSN:	1530-0447 0031-3998
DOI:	10.1203/00006450-197804001-00882
Popis:	A 3 year old Cuban female with persistent neonatal diabetes mellitus developed corneal opacities, photophobia, hirsuitism and failure to thrive following a prolonged episode of hypoglycemia with coma and seizure at 8 months of age. Generalized myopathy with marked proximal muscle weakness was noted at 2 years of age. Persistent hypokalemia was noted from 2½ years of age. Electromyography and nerve conduction velocities at 3 years of age showed mild non-specific changes but the creatine-phosphokinase was elevated at 197mU/ml (N 1.6) and 0.09 (N>1.1) μM/gm muscle respectively. Additionally hyperaldasteronism and hyperreninemia were also noted in face of a normal blood pressure.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::8a978b56bf8c28ee46855e747ecc3dcd https://doi.org/10.1203/00006450-197804001-00882 Zobrazit plný text záznamu