Typical Aicardi syndrome in a male

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

“…A de novo mutation with X-linked dominant is the most acceptable hypothesis since cases are identified almost exclusively in girls, but whether an increased lethality of hemizygous male conceptuses occurs and the role of skewed inactivation of the X chromosome in the phenotypic expression of AS remain unclarified [3,5]. We review medical literatures regarding male AS and find only 5 surviving cases in [7] reported the first 47 XXY male with undisputed features of AS in 1979 [8][9][10][11]. Thereafter, the remainder four male cases were debatable in diagnosis either for their 46 XY karyotype or too atypical features to fit the previously stricter diagnostic criteria [1,6].…”

“…So far, our patient should be the male AS presenting the earliest neurologic manifestation of seizure onset as early as in his neonatal period, which may be explained by these two comorbid neurologic anomalies to AS. Although severe neurological handicap is generally considered in AS regardless of genders [2,5], one male AS with mildly metal involvement has been reported [10].…”

Abstracts 20th International Science of Aphasia Conference, Rome, September 2019

“…AS is not familial and occurs only in individuals with two X chromosomes. Individuals with AS show ophthalmological and musculoskeletal deficiencies while they quite often suffer from psychiatric problems (Cabrera et al, 2011;Saddichha et al, 2007;Tuft et al, 2017). In addition, they are remarkably impaired in cognitive abilities and show cognitive decline over time (Grosso et al 2007;Zaarour & Traboulsi, 2017).…”

“…Deficits in receptive language abilities have also been reported as indicated by difficulties in following complex instructions (Jain & Dinesh, 2016;Tuft et al, 2017). On the other hand, other researchers report intact language abilities (Saddichha et al, 2007). In addition to the studies on AS cases, other studies have investigated the role of corpus callosum in language performance by testing individuals with agenesis of corpus callosum (ACC).…”

Response to Correspondence on ‘‘A Male Phenotype With Aicardi Syndrome’’

“…9 Efforts to localize the gene or genes or map a locus have been unsuccessful so far. 9 Efforts to localize the gene or genes or map a locus have been unsuccessful so far.…”