Moebius syndrome, peripheral neuropathy and hypogonadotrophic hypogonadism.
The association of congenital ophthalmoplegia and facial paresis (Moebius syndrome) with a variety of other developmental somatic defects has been widely recognised. Its co-existence with hypogonadism of hypothalamic/pituitary origin and subclinical peripheral neuropathy has been reported and in this paper we describe the second case of the Moebius syndrome in association with hypogonadotrophic hypogonadism and a progressive peripheral neuropathy of mixed axonal and demyelinating type.
D000293:Adolescent; D005158:Facial Paralysis / Q000150:complications* / Q000151:congenital; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000150:complications*; D009132:Muscles / Q000473:pathology; D009431:Neural Conduction; D009886:Ophthalmoplegia / Q000150:complications* / Q000151:congenital / Q000503:physiopathology; D010523:Peripheral Nervous System Diseases / Q000150:complications*; D013497:Sural Nerve / Q000473:pathology; D013577:Syndrome