Aicardi syndrome in a 47, XXY male neonate with lissencephaly and holoprosencephaly

Tai Heng Chen, Mei Chyn Chao, Lung Chang Lin, Yuh Jyh Jong, San Nan Yang, Yu Hong Lai, Hsiu Lin Chen*

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

17 Scopus citations

Abstract

Aicardi syndrome (AS) is a rare neuro-ophthalmic disorder first described by Jean Aicardi in 1965 with a characteristic triad of corpus callosal agenesis (CCA), chorioretinal lacunae (CRL), and infantile spasms (IS). All known cases of AS have been sporadic and a responsible gene has not been identified. With 5 exceptional males, potential X-linked dominant genetic mutation characterizes AS occurring almost exclusively in girls. Most of male AS cases were still debatable in diagnosis either for their 46 XY karyotype or too atypical presentations to fit the formerly stricter diagnostic criteria. We report a 47, XXY male neonate presenting some undisputable, but otherwise some regarded as atypical features in AS. We compare his distinctively clinical pictures with previously reported male cases and find CRL is less pathognomonic and lissencephaly appears frequently among male AS. Because of insufficient genetic and biochemical markers for definite diagnosis at this moment, we suggest the experience of a relatively rare male case would help to shed light on the underlying genetic pathogenesis of AS.

Original languageEnglish
Pages (from-to)138-140
Number of pages3
JournalJournal of the Neurological Sciences
Volume278
Issue number1-2
DOIs
StatePublished - 15 03 2009
Externally publishedYes

Keywords

  • Aicardi syndrome
  • Holoprosencephaly
  • Klinefelter syndrome
  • Lissencephaly
  • Male

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