title: Association of isolated adrenocorticotropin deficiency with a variety of neuro-somatic abnormalities in congenital facial diplegia (Moebius) syndrome.
abstract: A male patient with recurring episodes of hypoglycemic attacks was diagnosed as having isolated ACTH deficiency as well as renal glycosuria and ichthyosis vulgaris. In addition, he had facial diplegia and abducens palsy consistent with Moebius syndrome, muscle atrophy with proximal dominancy, high arched palate, hammer toes, and mental retardation. There was electrophysiological evidence of peripheral neuropathy. Muscle biopsy of the deltoid showed mild myofiber atrophy with occasional cylindrical laminated bodies. The association of these disorders has never been reported and it could be coincidental. However, considering the high rate of association of isolated hypogonadotropic hypogonadism and Moebius syndrome with peripheral neuropathy, the present case may indicate a causal relationship between isolated ACTH deficiency and Moebius syndrome, reflecting the disorders in the organ systems derived from a common ectoderm.
mesh_terms: D000324:Adrenocorticotropic Hormone / Q000172:deficiency*; D000328:Adult; D001786:Blood Glucose / Q000378:metabolism; D005158:Facial Paralysis / Q000150:complications* / Q000151:congenital / Q000473:pathology; D013006:Growth Hormone / Q000378:metabolism; D006728:Hormones / Q000097:blood; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology; D009431:Neural Conduction; D010523:Peripheral Nervous System Diseases / Q000209:etiology*
chemical_list: D001786:Blood Glucose; D006728:Hormones; D000324:Adrenocorticotropic Hormone; D013006:Growth Hormone