Clinical case of holoprosencephaly in a term newborn girl with multiple congenital developmental defects

Abstract

Summary. Congenital developmental defects of the central nervous system (CDD CNS) constitute one of the most acute medical-social problems of modern medicine, they determine and occupy a leading position in the structure of perinatal and infantile mortality rate and disability. Considerable moral-psychological and economical loss should be mentioned here as in the majority of cases these children are disabled since their childhood and require certain costs to perform therapeutic-rehabilitation measures. One of the ways to reduce the frequency of CDD CNS is detection of factors promoting their occurrence, pre-conceptual prevention and timely prenatal diagnostics.The article presents a clinical case of holoprosencephaly (HPE) in a term newborn girl with multiple congenital developmental defects (MCDD). The child was born to the first desired pregnancy undergoing against diffuse non-toxic goiter, gestational hypertension, and fetal hydrops. The mother was 24, with secondary education, worked as a dressmaker before and during early terms of pregnancy; the father was 28, with specialized secondary education, worked as a builder. Their marriage was registered. There were no bad habits found in the family couple. Heredity on the mother’s and father’s sides was not compromised. The woman was registered on the subject of her pregnancy in time. Prenatal ultrasound examination of the fetus on the 20th week of gestation detected non-immune edema of the fetus, development delay syndrome of the fetus, MCDD CNS (holoprosencephaly, schizencephaly) and heart (ventricular septal defect). The couple refused to interrupt pregnancy. The women delivered at the obstetrical in-patient department of the III level at the term of gestation of 38 weeks. The labour was physiological. The baby’s body weight at birth was 1700 g, body length – 41 cm, head circumference – 26 cm, chest circumference – 26 cm. Assessment according to Apgar score at the end of the first and during the following minutes of life was 5 points. Assessment of physical development of the baby by means of percentile tables determined that the girl had “a small size to the gestational age” with the values of body weight and body length less than 10 percentiles. External examination of the child detected visible MCDD of the facial skeleton and numerous stigmas of dysembryogenesis including microcephaly, proboscis, and cryptophthalmus. General baby’s condition at birth and during the whole period of treatment was assessed as severe at the expense of antenatal lesion of the fetus and manifestations of multiple organ dysfunction syndrome (MODS). Ultrasound examination determined the signs of MCDD from the side of the CNS (HPE, schizencephaly, external and internal hydrocephaly) and heart (ventricular septal defect (VSD)). Clinical diagnosis. The major one: MCDD (CDD CNS: HPE, external and internal hydrocephaly, schizencephaly; CDD of the sensory organs: proboscis, cryptophthalmus; CDD of the heart: VSD). Complications: multiple organ dysfunction syndrome (MODS). Comorbid: small size at birth. In spite of an adequate treatment the infant’s condition deteriorated, and on the 4th day the girl died. Postmortem diagnosis: the main one: MCDD (CDD CNS and sensory organs; HPE, external and internal hydrocephaly, schizencephaly; CDD of the heart: VSD, common arterial trunk; CDD of the endocrine system: hypoplasia of the adrenal glands). Complications: pronounced cerebral edema and pia mater. Atrophy of the cerebral cortex and focal leukomalacia of the brain. Bilateral diffuse atelectasis, alveolar and alveolar passages slump, dyslectic lungs. Focal lung emphysema. General venous plethora and dystrophic changes of the internal parenchymal organs. Swelling of the trunk and limbs. Comorbid: small size at birth. Therefore, HPE with severe form of CDD CNS occurring both in an isolated form and as a component of gene syndromes and chromosome diseases with MCDD, is characterized by a high mortality rate of children in early terms of the postnatal period. Optimization and timely prenatal diagnostics of this pathology is essential for its prevention and constitutes one of the main tasks of modern perinatal medicine. One of the topical and unsolved issues of management of children with HPE associated with MCDD is performing prenatal consulting of parents and solution of ethical questions concerning complete resuscitation aid in the maternity room and palliative aid during postnatal period.