AHMET SERT, Mehmet Emre ATABEK, Özgür PİRGON

Two new Kabuki cases of kabuki make-up syndrome

Kabuki sendromu (Kabuki make-up sendromu, Niikawa-Kuroki sendromu) çoklu doğumsal anomali/mental gerilik sendromudur. Epilepsi, prematür telarş ve prematür pubarşı olan Kabuki make-up sendromlu 11 aylık kız ve ekokardiyografi ile mezokardisi doğrulanan ve diyafragma hernisi nedeniyle opere edilen Kabuki make-up sendromlu 4 aylık erkek çocuğu sunuyoruz. Mental gerilik ve epilepsi ile prezente olan her hastada dikkatli fenotipik inceleme yapılması gerektiğini ve Kabuki sendromu teşhisi konulan hastaların erken puberte için takip edilmesi gerektiğini vurguluyoruz. Bunun yanında, henüz literatürde bildirilmeyen mezokardinin Kabuki sendromunun kardiyolojik bulgularından birisi olarak dikkate alınabileceğini ve Kabuki sendromlu bütün hastaların doğumsal diyafragma hernisinin yaşamı tehdit eden komplikasyonları için değerlendirilmesi gerektiğini öneriyoruz.

Kabuki make-up sendromunun iki yeni vakası

Kabuki syndrome (Kabuki make-up syndrome, Niikawa-Kuroki syndrome) is a multiple congenital anomaly/mental retardation syndrome. We report on an 11-month-old girl with Kabuki make-up syndrome who has premature telarche, premature pubarche and epilepsy, and a 4-month-old boy with Kabuki make-up syndrome who had been operated due to diaphragmatic hernia and had mesocardia confirmed by echocardiography. In the study, we emphasize that careful phenotypic examination of children should be performed in every patient presenting with mental retardation and epilepsy to diagnose Kabuki syndrome and the patients diagnosed as Kabuki syndrome should be followed for precocius puberty. We suggest that mesocardia, which has not been reported in the literature yet, may be considered as one of the cardiological findings of Kabuki syndrome and all Kabuki patients should be evaluated for life-threatening complications of congenital diaphragmatic hernia.

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