Growth hormone deficiency associated with moyamoya disease in a 16 year-old boy

Moyamoya disease is a rare cerebrovascular disorder which, according to a few literature reports, can coexist with hypothalamic-pituitary dysfunction. We report a 16 year-old boy referred to our Department because of short stature and headaches. He additionally, at admission, presented discrete facial dysmorphy, bruxism, luxation of temporomandibular joint and cryptorchidism. The height was 146 cm (-4.3 SDS); the sexual development was P2G2A1 and the bone age 11.5 years. The intellectual development was normal. No focal neurological deficits were observed. Based on baseline and stimulated hormonal values, isolated growth hormone deficiency was diagnosed. Malformation of the cerebral vessel was suspected on magnetic resonance imaging and upon angiocomputed tomography and panangiography, a picture suggesting moyamoya disease was obtained. Growth hormone has been administered with daily injections at the dose of 0.025 mg/kg/24h, and the first year height velocity was 12 cm/yr. No adverse events resulting from the treatment have been noted so far. This case indicates that GH deficiency may be associated with moyamoya disease, possibly resulting from chronic cerebrovascular insufficiency.