Obstructed Hemivagina and Ipsilateral Renal Agenesis Syndrome in a Neonate.

Obstructed hemivagina with an ipsilateral renal anomaly (OHVIRA) syndrome is a congenital malformation that presents as a uterine didelphys with an obstructed hemivagina and an associated ipsilateral renal aberration. The clinical symptoms usually manifest after menarche. Unlike the typical presentation in adolescence, this case report features a neonatal presentation of OHVIRA syndrome with an unusual renal association. A female twin delivered at 35 weeks of gestation was transferred to our institution after birth from an outside hospital due to respiratory distress and for evaluation of the left multicystic dysplastic kidney identified on prenatal ultrasound. Physical examination and lab results, including a complete blood count, and a basic metabolic panel, including blood urea and serum creatinine, were within the normal range for age. Abdominal and pelvic ultrasound showed multicystic dysplastic left pelvic kidney, congenital hepatic cyst measuring 6 mm, uterine didelphys with duplication of the vaginal canal, and obstructed left hemivagina corresponding to the OHVIRA syndrome. Further testing revealed a normal chromosomal microarray, small patent foramen ovale on the echocardiogram, no vertebral or rib anomalies on the spinal x-ray, normal hearing test, and mild optic cupping on the ophthalmological evaluation. The pediatric surgeon and urologist recommended an outpatient follow-up and elective surgery in the future. This is a unique case presenting in the neonatal period with an unusual association. Timely intervention can help prevent obstetric complications.

Diagnosis of Congenital Cytomegalovirus (cCMV) in an Asymptomatic Neonate on Placental Pathology.

Congenital Cytomegalovirus (cCMV) is the most common intrauterine infection, with an incidence of 0.5% to 1.3% in the United States of America (USA). The majority of cCMV infections are asymptomatic at birth. In this case report, we present a full-term neonate who was admitted to the neonatal intensive care unit (NICU) for early onset sepsis and had an incidental finding in the placenta suggestive of Cytomegalovirus infection that was later confirmed on polymerase chain reaction (PCR) test in the blood. The infant was further evaluated for signs of CMV infection: complete blood count (CBC), head ultrasound, audiology, and ophthalmology exams were performed that did not show any abnormality. He was discharged home with audiology, ophthalmology, primary care, and infectious disease specialties follow-up appointments. Our case emphasizes the role of placental examination in looking for evidence of CMV infection so that infants can be diagnosed as well as followed up appropriately and necessary interventions can be provided on time for the best possible outcomes.

A Neonate With Diabetes Mellitus, Congenital Hypothyroidism, and Congenital Glaucoma.

Neonatal diabetes mellitus (NDM) is a rare condition with more than 20 monogenic genes associated with it. GLIS3 gene-encoded GLI similar protein 3, as a transcription factor, is involved in the development of the pancreas, liver, kidneys, eye, and thyroid. We report a preterm female neonate with coarse facial features and hyperglycemia, later diagnosed with neonatal diabetes mellitus, congenital hypothyroidism (CH), congenital glaucoma (CG), and renal cysts, secondary to GLIS3 gene mutation. It is a rare genetic disorder involving multiple organ systems with progressive development of symptoms requiring long-term surveillance and management.