Hypomelanosis of Ito associated with precocious puberty Journal Article


Authors: Rutland, B. M.; Edgar, M. A.; Horenstein, M. G.
Article Title: Hypomelanosis of Ito associated with precocious puberty
Abstract: Hypomelanosis of Ito has been associated with precocious puberty in two cases. This study reports a third case involving a female with hypomelanosis of Ito including severe mental retardation and seizure disorder with autonomic symptoms (gastroesophageal reflux and asthma). At age 5 she developed vaginal discharge, thelarche, and adrenarche. Soon after, she died of pneumonia stemming from her neurologic deficits. A postmortem examination revealed normal gonads and endocrine organs. The breasts and vulva were prematurely developed. Central nervous system findings included megalencephaly, neuronal eosinophilic inclusions, leptomeningeal neuroglial heterotopias, and cortical dysplasia. Both previously reported cases of hypomelanosis of Ito associated with precocious puberty had abnormal gonads and responded to cyproterone acetate therapy, indicating a peripheral mechanism of precocious puberty (gonadotrophin- independent). The current case, which was autopsied, lacks significant gonadal pathology, and has extensive neurologic involvement that suggests that a central mechanism of precocious puberty (gonadotrophin-dependent) can also be associated with hypomelanosis of Ito. © 2006 Elsevier Inc. All rights reserved.
Keywords: child; child, preschool; case report; disease association; precocious puberty; brain; asthma; seizure; cyproterone acetate; autopsy; gastroesophageal reflux; hypopigmentation; breast development; eosinophil; hypomelanosis; cell inclusion; mental deficiency; vagina discharge; incontinentia pigmenti; adrenarche; alexander disease; puberty, precocious
Journal Title: Pediatric Neurosurgery
Volume: 34
Issue: 1
ISSN: 1016-2291
Publisher: Karger  
Date Published: 2006-01-01
Start Page: 51
End Page: 54
Language: English
DOI: 10.1016/j.pediatrneurol.2005.06.004
PUBMED: 16376280
PROVIDER: scopus
DOI/URL:
Notes: --- - "Cited By (since 1996): 1" - "Export Date: 4 June 2012" - "CODEN: PNEUE" - "Source: Scopus"
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  1. Mark Allen Edgar
    45 Edgar