The first case of a rare combination of congenital pathologies described

Experts reported, for the first time, a unique case of simultaneous occurrence of trisomy X and pigmentary incontinence (PI, Bloch-Sulzberger syndrome) in a prematurely born girl with extremely low birth weight.

The article was published in the first issue 2024 of in the journal of Obstetrics and Gynecology.

Clinical case observed by specialists from Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, A.N. Bakulev National medical research center for cardiovascular surgery, and Peoples' Friendship University of Russia, has not been previously described in the world medical literature.

Fetal growth restriction (FGR) is the leading cause of stillbirth, neonatal morbidity, and mortality. Modern genetic diagnostic techniques can identify not only chromosomal, but also submicroscopic and monogenic disorders, which may be the cause of FGR.

In the clinical case described, specialists performed non-invasive prenatal screening for fetal aneuploidies using maternal blood used in the management of high-risk pregnancies. Based on these results, a sex chromosome disorder was suspected in the female fetus. According to the combined first-trimester screening, the patient was classified as having a high risk of developing preeclampsia (1:24) and FGR (1:97). Despite preventive measures, preeclampsia occurred at the end of the second trimester. Due to a further increase in the severity of preeclampsia, an increase in edema with generalization, and the addition of ascites and pleural effusion at 29 weeks and 4 days, the woman underwent an emergency cesarean section.

A live preterm girl was born with Apgar scores of 6 at 1 min and 7 at 5 min, birth weight of 900 g (5.3 percentile, − 1.6 Z-score), and body length of 32 cm (0.4 percentile, -2.6 Z- score), which meets the criteria for fetal growth restriction. Chromosomal analysis performed because of the high risk of trisomy X (based on NIPS results) showed a karyotype of 47, XXX.

From the first day of life, the newborn developed skin lesions characteristic of pigmentary incontinence, inherited in an X-linked type with multiple elements of vesiculopustular rashes on the limbs, trunk, and back. On the 12th day of life, in addition to vesicles, warty rashes with hyperkeratosis were observed along Blaschko’s lines.

“This clinical observation, which has not been previously reported in the world literature, the combination of trisomy X and pigmentary incontinence in a child with early intrauterine growth restriction provides insight into the capabilities and limitations of modern invasive and noninvasive methods for ante- and postnatal diagnosis of combined genetic pathologies,” the authors of the article conclude.

By continuing to use our site, you consent to the processing of cookies that ensure the proper functioning of the site.