Literature DB >> 15493741

Holoprosencephaly presenting as membranous aplasia cutis and diabetes insipidus: report of one case.

Mi-Mi Tiang1, Beng-Huat Lau, Ting-Xian Lee, Ming-I Ling.   

Abstract

Membranous aplasia cutis is characterized by the presence of a cystic-like nodule located at the midline of the scalp, which is surrounded by a ring of long, dark hair, called a 'hair collar' sign; it always contributes to underlying central nervous malformation. Herein, we report a 2-month-old male infant who was admitted to our ward due to diabetes insipidus complicated with hypernatremia. Physical examination revealed the unique 'hair collar' sign, which is a rare presentation of congenital aplasia cutis. Imaging study revealed holoprosencephaly. Thus, the aim of this report is to remind pediatrician that in a neonate who has "membranous aplasia cutis" with hair collar sign, imaging studies, including brain sonography, computed tomography or magnetic resonance imaging of the brain, should be performed because of the great possibility of underlying central nervous system malformation.

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Year:  2004        PMID: 15493741

Source DB:  PubMed          Journal:  Acta Paediatr Taiwan        ISSN: 1608-8115


  2 in total

1.  Hypocalcemia due to tubular dysfunction in a patient with holoprosencephaly.

Authors:  Masaho Negishi; Kenichi Kano; Naoto Shimura; Osamu Arisaka
Journal:  Clin Exp Nephrol       Date:  2005-09       Impact factor: 2.801

Review 2.  Holoprosencephaly.

Authors:  Christèle Dubourg; Claude Bendavid; Laurent Pasquier; Catherine Henry; Sylvie Odent; Véronique David
Journal:  Orphanet J Rare Dis       Date:  2007-02-02       Impact factor: 4.123

  2 in total

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