PERLMAN SENDROMU: PRENATAL VE POSTNATAL BULGULAR

Öz

Perlman sendromu, polihidramnios, fetal aşırı büyüme, yüz dismorfizmi ve visseromegali ile karakterize ve otozomal resesif bir şekilde kalıtılan son derece nadir bir sendromdur. Burada, prenatal polihidramnios, fetal asit, nefromegali, korpus kallozum agenezisi ve koroid pleksus kisti öyküsü olan ve nefromegali, hepatomegali, kolestaz, kardiyomegali, kriptorşidizm, solunum sıkıntısı, hipoglisemi, genelleştirilmiş kas hipotansiyonu ile başvuran akraba ailelerinden doğan bir erkek bebeği sunuyoruz. Doğumdan sonra ve 6 aylıkken ilerleyici solunum dekompansasyonu nedeniyle öldü. DIS3L2 geninde homozigot varyant mutasyonu ile doğrulanan Perlman sendromu (#267000) teşhisi kondu.

Anahtar Kelimeler

• PERLMAN SENDROMU
• NEFROMEGALİ
• POLİHİDRAMNİYOS
• FETAL ASİT
• DIS3L2 Gene

PERLMAN SYNDROME: PRENATAL EVIDENCE AND POSTNATAL CONFIRMED

Öz

Perlman syndrome is an extremely rare syndrome characterized by polyhydramnios, fetal overgrowth, facial dysmorphism and visceromegaly, and inherited in an autosomal recessive fashion. We here report a male infant born to consanguineous parents with prenatal history of polyhydramnios, fetal ascites, nephromegaly, corpus callosum agenesis and choroid plexus cysts, and presented with nephromegaly, hepatomegaly, cholestasis, cardiomegaly, cryptorchidism, respiratory distress, hypoglycemia, generalized muscle hypotonia after birth, and died due to progressive respiratory decompensation at the age of 6 months. He was diagnosed with Perlman syndrome (#267000) confirmed with a homozygous variant mutation in the DIS3L2 gene.

Anahtar Kelimeler

• Perlman Syndrome
• Nephromegaly
• • Polyhydramnios
• • Fetal Ascites
• DIS3L2 Gene

Kaynakça

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