title: Aicardi syndrome in a 47, XXY male neonate with lissencephaly and holoprosencephaly.
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.
authors.affiliation: Division of Pediatric Neurology, Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
authors.forename: Tai-Heng
authors.initials: TH
authors.lastname: Chen
authors.forename: Mei-Chyn
authors.initials: MC
authors.lastname: Chao
authors.forename: Lung-Chang
authors.initials: LC
authors.lastname: Lin
authors.forename: Yuh-Jyh
authors.initials: YJ
authors.lastname: Jong
authors.forename: San Nan
authors.initials: SN
authors.lastname: Yang
authors.forename: Yu-Hong
authors.initials: YH
authors.lastname: Lai
authors.forename: Hsiu-Lin
authors.initials: HL
authors.lastname: Chen
mesh_terms: D000015:Abnormalities, Multiple; D055673:Acrocallosal Syndrome / Q000235:genetics / Q000473:pathology; D001921:Brain / Q000473:pathology; D004569:Electroencephalography; D016142:Holoprosencephaly / Q000235:genetics / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D054082:Lissencephaly / Q000235:genetics / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D012127:Respiratory Distress Syndrome, Newborn; D012640:Seizures; D012729:Sex Chromosome Aberrations; D013036:Spasms, Infantile; D013577:Syndrome