A case of congenital diffuse lipomatosis in ophthalmic practice

A clinical case of a childhood form of diffuse lipomatosis is considered. The clinical picture and diagnostic methods necessary for the establishment of a clinical diagnosis are reflected. When observing patients with diffuse lipomatosis, it is required to involve specialists of various specialties and conduct thorough diagnostic measures to verify the clinical diagnosis and select the appropriate treatment methods. Key words: congenital malformations of the organ of vision, germ layers, mesenchyme, connective tissue, lipomatosis.

Current issues of differential diagnosis and treatment of congenital corneal opacities in children

Purpose. To analyze the literature on the topic of congenital corneal opacities, their diagnosis, differential diagnosis, as well as the choice of optimal treatment tactics. Congenital corneal opacities (CCO), when effective treatment is delayed, usually lead to permanent loss of visual function. This diagnosis requires urgent measures. On the other hand, the rarity of neonatal corneal pathology and difficulties associated with evaluation of newborns yield the situation when more or less defined clinical practice patterns in such cases remain unclear for most pediatric ophthalmologists. Based on our own experience and the literature data, we describe the main issues of differential diagnosis and management of CCO in newborns. A broad range of developmental anomalies, congenital hereditary corneal dystrophies and metabolic diseases as the main causes of CCO are reviewed. In addition to this diagnostic paradigm, the prognosis in every particular pathology as well as treatment recommendations are given. Conclusion. Based on the presented review, the prognosis and therapeutic recommendations for a particular congenital pathology of the cornea are given. Key words: congenital malformations of the eye, children, corneal opacity, keratoplasty, low vision.

Prenatal assessment of viscero-abdominal disproportion in fetuses with gastroschisis and its clinical significance

Purpose - to present a method of prenatal assessment of viscero-abdominal disproportion in fetuses with gastroschisis during two-dimensional ultrasound examination, to compare prenatally determined indices with postnatal clinical data. Materials and methods. Extended measurements of the abdominal cavity and eventrated organs in 161 fetuses with gastroschisis were performed at different terms of pregnancy. Postnatal intraoperative data and general clinical outcomes were compared in 74 cases depending on the results of prenatal measurements: the presence and degree of pathological changes in the eventrated intestine, the degree of viscero-abdominal disproportion and type of surgical correction, presence of associated intestinal malformations and mortality. Results. A methodology for determining the index of viscero-abdominal disproportion in fetuses with gastroschisis and a working classification of its degrees was proposed. The disproportion was absent in the 2nd trimester in 80.5% of fetuses, and in the 3rd trimester only in 40.7%. During the 2nd trimester, the degree of VAD changed in 1.8% of cases, during the 3rd trimester in 11.1% of cases. Among the 55 fetuses examined in both the 2nd and 3rd trimesters, a change in the degree of VAD was registered in 78.2% of cases. Significant differences in postnatal clinical data were found in groups with absent, moderate and severe disproportion: no changes of the eventrated intestine were found in 50%, 34.1% and 7.1%, respectively, significant changes of the intestine were present in 12.5%, 36.4% and 50%, associated intestinal anomalies were diagnosed in 18.75%, 13.6% and 35.7%, primary correction with fascial closure was performed in 37.5%, 9.0% and 0%, staged repair with synthetic patch/silo and delayed abdominal wall closure in 0%, 20.5% and 57.1%. Mortality was 6.3%, 13.6% and 35.7%, respectively. Conclusions. A new method for assessing the congruence of the volumes of eventrated organs and abdominal cavity in fetuses with gastroschisis can provide important additional information for refining prenatal diagnosis, determining the severity of pathological process and predicting postnatal outcome. Prenatal evaluation of the degree of viscero-abdominal disproportion will allow to choose the correct management of pregnancy and labor, as well as to plan specialized care of the newborns. Key words: congenital malformations, prenatal diagnosis, anterior abdominal wall, gastroschisis, viscero-abdominal disproportion

Variants of prenatal ultrasound imaging of omphalocele in the fetus

Purpose - to present characteristic features of prenatal ultrasound imaging in omphalocele among patients of the Department of Fetal Medicine, to describe most common typical variants. Material and methods. A retrospective analysis of 201 ultrasound examinations in 150 patients with omphalocele in the fetus, which were referred to the Department of Fetal Medicine in 2007-2018. Results. The most common typical variants of ultrasound imaging/anatomical variants of omphalocele in the fetus are presented. According to hernia content there were following frequent variants: “intestine” in 48.15 %, "intestine + liver" in 31.11 %, "intestine + liver + stomach" in 15.56 %, "liver" in 5.19 %. A working classification of omphalocele by size is proposed and 4 gradations are distinguished: small, medium, large and giant. Incidence of chromosomal pathology was significantly higher in small-sized omphalocele (44 %) and rate of associated structural pathology was high in large (54.5 %) and giant omphalocele (72.7 %). Conclusion. The study showed significant variability of size and anatomical variants of omphalocele in the fetus. In 44.9 % of cases anatomical variants of severe pathology with large or giant size omphalocele were present. Key words: congenital malformations, abdominal wall defects, variants of omphalocele, chromosomal pathology.