A newborn girl delivered at 38 weeks of gestation arrived with an exceptionally rare combination of three major congenital malformations: a large omphalocele containing her liver and bowel, a lumbosacral myelomeningocele with an exposed neural placode, and an occipital encephalocele. The case, reported in Clinical Case Reports, describes a neonate born to a 35-year-old mother with an eight-year history of Type 2 diabetes mellitus, and it documents both the immediate surgical management and the short-term outcome of a malformation pattern that the authors describe as exceedingly unusual.

The mother, a multiparous woman with a gravida of 10 and a para of 6 plus 4, underwent emergency cesarean section because of polyhydramnios and fetal distress. She reported taking folate supplementation during the periconceptional period and denied any teratogenic medication exposures, radiation, or illicit substance use. There was no family history of congenital malformations or genetic disorders. Antenatal imaging at 24 weeks of gestation had already suggested a midline abdominal wall defect and an occipital protrusion, and the amniotic fluid volume was significantly increased at 1900 mL, although fetal movements remained normal.

At birth the neonate weighed 3.2 kg, with Apgar scores of 7 and 9 at 1 and 5 minutes respectively. Her head circumference measured 38 cm, above the 97th percentile. Clinical examination revealed dysmorphic facial features, including a flattened nasal bridge and low-set ears. The large omphalocele contained herniated liver and bowel loops within a translucent peritoneal sac at the base of the umbilical cord. A cystic lumbosacral lesion measuring 3.2 by 1.8 cm with an exposed neural placode was consistent with myelomeningocele, and a midline occipital encephalocele presented as a cystic protrusion through a posterior cranial defect. The infant was hemodynamically stable but showed decreased spontaneous movement of the lower extremities, and her baseline blood glucose was 50 mg/dL.

Diagnostic imaging clarified the anatomy of each defect. Abdominal ultrasonography confirmed herniation of the liver and bowel into the omphalocele while the remaining intra-abdominal organs appeared normal. Spinal ultrasonography demonstrated a cystic lumbosacral lesion communicating with the spinal canal, confirming the myelomeningocele. Echocardiography showed structurally normal cardiac anatomy. Brain CT and MRI revealed obstructive hydrocephalus with obliteration of the fourth ventricle and asymmetric dilation of the lateral ventricles, together with absence of the posterior arch of C1 and cerebellar tonsillar herniation through the foramen magnum, a pattern consistent with Chiari II malformation. No midline shifting or intracranial hemorrhage was observed. The occipital encephalocele contained predominantly meninges and a small portion of gliotic brain tissue.

Initial management included intravenous fluids, empirical antibiotics, vitamin K, glycemic control, and protection of the exposed defects using sterile saline-soaked dressings, with early enteral feeding initiated. Neurosurgical closure of the lumbosacral myelomeningocele was performed on the second day of life, involving meticulous dissection, neural placode reconstitution, watertight dural repair, and layered soft-tissue closure. Hemostasis was achieved and the postoperative course was uncomplicated. The omphalocele was managed conservatively with topical silver sulfadiazine to promote epithelialization using the paint-and-wait technique, with definitive surgical repair postponed until clinical stabilization and adequate growth of the abdominal cavity. Management of the progressive hydrocephalus and the encephalocele, along with definitive omphalocele repair, remained under ongoing multidisciplinary evaluation.

At two-week follow-up the neonate was clinically stable with a well-healed spinal incision. Neurological assessment showed persistent mild weakness in the lower limbs, but the infant was feeding well and gaining weight. The authors note that the scope of the report is limited to acute presentation, initial stabilization, and short-term outcomes; serial head circumference progression, neurodevelopmental trajectories, long-term urological and bowel function, and the final outcomes of scheduled staged surgeries are not yet available.

The report places the case in the context of established knowledge about these malformations. Omphalocele is a defect of the abdominal wall in which abdominal contents herniate through a membranous sac at the base of the umbilical cord, resulting from failure of the midgut to return to the abdominal cavity after physiological herniation. Epidemiological studies have shown that omphalocele is often associated with other congenital anomalies, including cardiovascular, gastrointestinal, and central nervous system defects. Neural tube defects, which include myelomeningocele and encephalocele, arise from failure of the neural tube to close completely during early embryological development and are frequently accompanied by intracranial abnormalities such as hydrocephalus and Chiari II malformation, which relate to alterations in cerebrospinal fluid dynamics and hindbrain development.

Maternal pregestational diabetes mellitus is a well-established risk factor for a wide range of congenital abnormalities. Population-based studies have demonstrated a significant association between pregestational diabetes and neural tube defects as well as other structural malformations, including abdominal wall defects. The teratogenic effects are thought to be mediated in part by hyperglycemia-induced disruption of embryonic signaling pathways during organogenesis. Infants born to mothers with diabetes carry an increased risk of congenital anomalies and other complications compared with infants born to mothers without diabetes, and that risk is particularly elevated in pregnancies complicated by pregestational diabetes, especially when glycemic control is poor. Chronic maternal hyperglycemia may contribute to diabetic embryopathy through mechanisms involving oxidative stress and the formation of advanced glycation end products. The authors hypothesize that these mechanisms may potentially have contributed to the anomalies observed in this case, given the mother’s longstanding Type 2 diabetes with reported poor glycemic control.

The authors also point out that advanced maternal age has been reported among factors associated with omphalocele, which is relevant because the mother in this case was 35 years old. They emphasize that although maternal diabetes has been independently associated with neural tube defects and abdominal wall defects, the coexistence of occipital encephalocele, lumbosacral myelomeningocele, and omphalocele in a single neonate is exceptionally unusual. The constellation, they write, highlights the potential severity of complex congenital disruptions and reinforces the importance of optimal glycemic control before conception and throughout pregnancy, together with early antenatal screening and multidisciplinary management.

Important limitations temper any causal interpretation. Quantitative periconceptional records, precise maternal HbA1c levels, serial blood glucose logs, and specific treatment regimens were unavailable. Because of resource limitations in the authors’ country, no genetic testing of any type, including karyotyping and chromosomal microarray, could be performed, so underlying chromosomal abnormalities or syndromic conditions could not be definitively ruled out. The report’s authors conclude that although the triple constellation occurred in the context of maternal Type 2 diabetes, definitive causation cannot be established given the lack of quantitative glycemic logs and genetic testing. The case stands as a documented clinical observation of an exceedingly rare malformation complex, illustrating both the diagnostic findings and the staged management approach used in the first weeks of life.

Subject of Research: A case report of a neonate with concurrent omphalocele, myelomeningocele, and occipital encephalocele born to a mother with Type 2 diabetes mellitus.

Article Title: A Rare Constellation of Omphalocele, Myelomeningocele, and Encephalocele in a Neonate Born to a Mother With Type 2 Diabetes Mellitus: A Case Report

Article References: Amin, J. H. J., Shakeel, N., Mohammed, A. S. K., Mohammed, R., Omer, A. M. B., & Mahgoob, A. M. (2026). A Rare Constellation of Omphalocele, Myelomeningocele, and Encephalocele in a Neonate Born to a Mother With Type 2 Diabetes Mellitus: A Case Report. Clinical Case Reports, 14(11), Article e73872. https://doi.org/10.1002/ccr3.73872

Image Credits: AI Generated

DOI: 10.1002/ccr3.73872

Keywords: omphalocele, myelomeningocele, encephalocele, neural tube defects, maternal diabetes, congenital anomalies, Chiari II malformation, hydrocephalus, diabetic embryopathy, neonatal surgery, case report, Rare