Disorder of Growth and Development in a Boy with X-bound Ichthyosis, Protracted Delivery and Low Level of Estriol in the Mother during Pregnancy

Česká verzia

Authors: E. Flachsová ¹; J. Kytnarová ¹; J. Ledvinová ²; H. Poupětová ²; E. Kočárek ³; V. Malinová ¹; J. Zeman ¹
Authors place of work: Klinika dětského a dorostového lékařství VFN a UK 1. LF, Praha přednosta prof. MUDr. J. Zeman, DrSc. ¹; Ústav dědičných metabolických poruch VFN a UK 1. LF, Praha přednosta doc. MUDr. V. Kožich, DrSc. ²; Ústav biologie a lékařské genetiky FN Motol, Praha přednosta prof. MUDr. M. Macek Jr., DrSc. ³
Published in the journal: Čes-slov Pediat 2009; 64 (3): 120-126.
Category: Case Report

Summary

X-linked ichthyosis was diagnosed in a 2-year old boy with low maternal estriol serum levels during gestation. The prolonged delivery was terminated by Caesarian section due to fetal hypoxia and turbid amniotic fluid. Apgar score was uneventful, but early postnatal adaptation was complicated by failure to thrive and hypotonia followed on by hypernatremic dehydration and aspiration pneumonia in the second week of life. At this time, cutaneous manifestations of ichthyosis was also observed and severe psychomotor retardation developed since early infancy. Enzymatic investigations in the proband, his mother and her relatives including grandmother, sister and her son revealed steroid sulfatase (STS) deficiency and the cytogenetic analyses using FISH method revealed the microdeletion of STS gene.

The central nervous system impairment is usually not present in patients with X-linked ichthyosis. Although in our patient the role of hypernatremic dehydration and/or eventual hypoxia during aspiration pneumonia cannot be excluded as a cause of the postnatal CNS impairment, we suppose that also the perinatal hypoxia might be important in a boy with prolonged delivery resulting from low maternal estrogens and placental STS deficiency. Because the STS deficiency affects approximately 1 in 2–6000 males, the low estriol level in pregnant woman should be an alerting marker for physicians to give a though to possibility of X-linked ichthyosis.

Key words:
X-linked ichthyosis, steroid sulfatase, estriol, prolonged delivery, psychomotor retardation, growth impairment

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