HYDROCEPHALY, SCHIZENCEPHALY, SPONDYLOCOSTAL DYSPLASIA, AND HYPOPARATHYROIDISM IN AN INFANT OF A DIABETIC MOTHER
1"Lucian Blaga" University, Faculty of Medicine, Dept. of Neonatology, Sibiu, Romania.
Insights
Infants born to mothers with diabetes face significant risks, including rare conditions like persistent hypoparathyroidism and spondylocostal dysplasia. This case highlights the complex challenges and multidisciplinary care needed for these high-risk newborns.
Area of Science:
- Neonatal Medicine
- Pediatric Endocrinology
- Medical Genetics
Background:
- Maternal diabetes mellitus is a leading cause of pregnancy complications, increasing risks for neonatal morbidity and mortality.
- Known neonatal complications include macrosomia, respiratory distress, metabolic disturbances, and congenital defects.
Observation:
- A macrosomic infant born to a mother with uncontrolled diabetes experienced a complex postnatal course.
- The infant presented with respiratory distress, hypoglycemia, persistent hypocalcemia, hyperphosphatemia, and hydrocephaly.
Findings:
- The infant developed hypoparathyroidism, hydrocephaly, schizencephaly, and spondylocostal dysplasia, requiring ventriculoperitoneal shunting.
- Despite interventions, the infant suffered seizures and recurrent respiratory infections, leading to demise at 5 months.
Implications:
- This rare case underscores the challenges in managing infants with multiple congenital anomalies born to diabetic mothers.
- A multidisciplinary approach is crucial for addressing the complex needs of these neonates.
- Highlights the importance of maternal glycemic control and prenatal care in mitigating neonatal risks.
Context:
Diabetes mellitus is the most frequent chronic complication in pregnancy and continues to contribute to increased perinatal morbidity and mortality in newborns. Macrosomia, respiratory distress syndrome, metabolic and electrolytic disturbances, and increased rates of congenital structural defects are well-known neonatal complications associated with maternal diabetes, even if well-controlled.
Case Report:
A macrosomic infant born from an insulin-dependent mother, with uncontrolled diabetes and lack of adequate prenatal care, prenatally diagnosed with hydrocephaly showed a complicated postnatal course. Initial respiratory distress syndrome and transient hypoglycemia, rapidly corrected under treatment, were followed by persistent hypocalcemia and hyperphosphatemia due to hypoparathyroidism and evolving hydrocephaly. Ventriculoperitoneal shunting was followed by resolution of hypocalcemia, but seizures associated with schizencephaly and recurrent respiratory tract infections, aggravated by spondylocostal dysplasia, concurred to infant's demise at the age of 5 months.
Conclusions:
The reported case is rare due to multiple aspects: persistent hypoparathyroidism, uncommon association of schizencephaly, and even rarely association with spondylocostal dysplasia, all these conditions requiring a multidisciplinary therapeutic approach. Also, the reported case is evocative for challenges associated with infants born from diabetic mothers.
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