A case of Kabuki make-up syndrome with central diabetes insipidus and growth hormone neurosecretory dysfunction.
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.
Tawa
R
R
Department of Pediatrics, Ehime University School of Medicine, Japan.
Kaino
Y
Y
Ito
T
T
Goto
Y
Y
Kida
K
K
Matsuda
H
H
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
D013006:Growth Hormone