Disorder of Growth and Development in a Boy with X-bound Ichthyosis, Protracted Delivery and Low Level of Estriol in the Mother during Pregnancy
2009
Abstract
X-linked ichthyosis was diagnosed in a 2-year old boy with low maternal estriol serum levels during gestation, perinatal hypoxia, severe psychomotor retardation and cutaneous manifestations of ichtyosis. Enzymatic investigations in the proband and other family members revealed steroid sulfatase (STS) deficiency and the cytogenetic analyses using FISH method revealed the microdeletion of STS gene.
Tne central nervous systém impairement is not usually present in patients with X-linked ichtyosis. Perinatal hypoxia during prolongated delivery or postnatal hypernatremic dehydratation might be important.