Cerebellar & vermian hypoplasia in a baby with 6q25 deletion a case report

Amaç

To summarize the clinical characteristics of a newborn with 6q25 deletion who was prenatally diagnosed with posterior fossa anomaly (PFA) at the 2nd trimester.

Methods and Results

We report a case of a fetus who was diagnosed with cerebellar & vermian hypoplasia in our perinatology unit during second trimester fetal anatomy scan. The family did not opt for karyotype analysis. The fetus later on developed intrauterine growth restriction (IUGR) at 27 weeks of gestation and was delivered by cesarian section at 32 weeks. The baby was transferred to neonatal intensive care unit (NICU). Postnatal cranial MR revealed hypoplasia of bilateral serebellar hemispheres and vermis whereas postnatal echocardiography also revelead a 4 mm-perimembranous outlet ventricular septal defect (VSD) and 2 small mid-muscular VSDs. The baby stayed in the NICU for 3 months where she stayed entubated and under total parenteral nutrition (TPN). She developed retinopathy of prematurity (ROP) at the end of 1st month and was operated due to necrotizing enterecolitis (NEC) at the 35th day of life. She also developed sepsis & renal failure and undergone peritoneal dialysis. For now, she is still entubated due to hypotonia related respiratory depression. A tracheostomy is considered for her permanent discharge. The karyotype and chromosomal microarray analysis (CMA) of the baby revealed a normal karyotype with del(6)q(25).

Sonuç

CMA is increasingly applied in perinatology. PFA represent some of the most common CNS anomalies. Genetic conditions are recognized as major causes of some PFAs. 6q terminal deletions are reported to be among the most frequent defects associated with cerebellar hypoplasia. Knowledge of the accompanying submicroscopic chromosome aberrations may aid for counseling.

Anahtar Kelimeler

Cerebellar hypoplasia, vermian hypoplasia, 6q25 deletion, posterior fossa abnormalities, intrauterine growth restriction.