title: A case of Kabuki make-up syndrome with central diabetes insipidus and growth hormone neurosecretory dysfunction.
abstract: A case of a 6 year old boy with Kabuki make-up syndrome with central diabetes insipidus and growth hormone neurosecretory dysfunction is reported. Magnetic resonance imaging revealed abnormal findings of the pituitary gland and stalk. Good catch-up growth was obtained by treatment with growth hormone. These findings suggest that hypothalamic-pituitary dysfunction might be involved in Kabuki make-up syndrome.
authors.affiliation: Department of Pediatrics, Ehime University School of Medicine, Japan.
authors.forename: R
authors.initials: R
authors.lastname: Tawa
authors.forename: Y
authors.initials: Y
authors.lastname: Kaino
authors.forename: T
authors.initials: T
authors.lastname: Ito
authors.forename: Y
authors.initials: Y
authors.lastname: Goto
authors.forename: K
authors.initials: K
authors.lastname: Kida
authors.forename: H
authors.initials: H
authors.lastname: Matsuda
mesh_terms: D000015:Abnormalities, Multiple; D002648:Child; D003919:Diabetes Insipidus / Q000150:complications*; D005149:Facial Expression; D013006:Growth Hormone / Q000378:metabolism*; D006801:Humans; D007030:Hypothalamo-Hypophyseal System / Q000503:physiopathology; D008297:Male; D010902:Pituitary Gland / Q000002:abnormalities; D013577:Syndrome
chemical_list: D013006:Growth Hormone