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Dergi Kimliği

Online ISSN
1305-3132

Kuruluş
1993

Editor-in-Chief
​Cihat Şen, ​Nicola Volpe

Editors
Daniel Rolnik, Mar Gil, Murat Yayla, Oluş Api

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

Sümeyra Ertemel Bakşiş, Derya Yaşar, Hakan Cangül, Oluş Api

Künye

Cerebellar & vermian hypoplasia in a baby with 6q25 deletion a case report. Perinatoloji Dergisi 2018;26(3):S79-S80 DOI: 10.2399/prn.18.S001001

Yazar Bilgileri

Sümeyra Ertemel Bakşiş1,
Derya Yaşar1,
Hakan Cangül2,
Oluş Api1

  1. Department of Perinatology, Medipol Mega University Hospital, Istanbul, Turkey
  2. Department of Medical Genetics, Medipol Mega University Hospital, Istanbul, Turkey
Yazışma Adresi

Sümeyra Ertemel Bakşiş, Department of Perinatology, Medipol Mega University Hospital, Istanbul, Turkey,

Yayın Geçmişi
Çıkar Çakışması

Çıkar çakışması bulunmadığı belirtilmiştir.

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.