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A case of Kabuki make-up syndrome with central diabetes insipidus and growth hormone neurosecretory dysfunction |
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| Authors: | RITSUKO TAWA YUKIKAZU KAINO TAKUO ITO YOSHINORI GOTO KAICHI KIDA HIROSHI MATSUDA |
| Institution: | Department of Pediatrics, Ehime University School of Medicine, Shigenobu, Ehime 791-02, Japan |
| 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. |
| Keywords: | diabetes insipidus growth hormone neurosecretory dysfunction hypothalamic-pituitary dysfunction Kabuki make-up syndrome magnetic resonance imaging |