HEXB Geninde Yeni Bir C.1341delt Homozigot Mutasyonu Saptanan Fotosensitif Nöbetli Bir Kız Çocuğu Vakası

Yıl 2019, Cilt: 41 Sayı: 3, 289 - 293, 01.07.2019

Gonca Kılıç Yıldırım , Coşkun Yarar , Kürşat Bora Çarman , Hikmet Başmak

https://doi.org/10.20515/otd.571345

Öz

Sandhoff
hastalığı otozomal resesif geçişli, nadir rastlanan lizozomal depo
hastalıklarından biridir. Progresif nörolojik gerileme ve makulada kiraz
kırmızısı nokta (Cherry red spot) görünümü tipiktir. Total β-hekzosaminidaz A
ve B enzim aktivitelerinde azalmanın ve HEXB geninde mutasyonun gösterilmesi
ile tanı doğrulanır. 14 aylık kız
hasta gelişme geriliği ve makulada kiraz kırmızısı nokta görünümü saptanması
üzerine yönlendirildi. Öyküsünden aralarında birinci dereceden akrabalık olan
anne babanın tek çocuğu olduğu, baş boyun kontrolünün hiç olmadığı, anneyi
tanımadığı öğrenildi. Hastanın nörolojik muayenesinde göz teması ve baş boyun
kontrolü yoktu. Sese karşı aşırı irkilmesi ve hipotonisitesi mevcuttu. Hepatosplenomegali
saptanmadı. Enzim çalışmasında Total β-Hekzosaminidaz A ve B 29
nmol/saat/mg protein (N: 1223±273 nmol/saat/mg protein), genetik çalışmasında
HEXB geninde c.1341delT homozigot
mutasyonu saptandı. Hastaya Sandhoff
hastalığı tanısı konuldu, aileye hastalık hakkında bilgi ve genetik danışma
verildi. İzleminde tek taraflı fotosensitif nöbet ve elektroensefalografide
fokal bulgu saptandı. Bu olgu ile metabolik hastalık şüphesi olan hastalarda
göz dibi muayenesinin tanıda önemine; Sandhoff hastalığının atipik
bulgular ile de seyredebileceğine dikkat çekilmek istenmiştir.  

Anahtar Kelimeler

Sandhoff hastalığı, makulada kiraz kırmızısı nokta görünümü, fotosensitif nöbet, ketojenik diyet

Destekleyen Kurum

yok

Case Report of A Novel C.1341 Delt Homozygous Mutation in The HEXB Gene in A Girl with Photosensitive Seizure

Öz

Sandhoff disease is one of the
rare lysosomal storage diseases with autosomal recessive inheritance. The
progressive neurological decline and the appearance of a cherry red spot on the
macula is typical. Diagnosis is confirmed by a decrease in total β-hexosaminidase
A and B enzyme activities and by showing the mutation in the HEXB gene. A
14-month-old girl was referred to our clinic for developmental delay and the
appearance of a cherry red spot on the macula. It was learned that she was the
only child of parents who had first degree relatives among them, she had no
head and neck control and did not recognize the mother. In the neurological
examination, there was no eye contact and head-neck control. She had excessive
irritation against noise and hypotonicity. Hepatosplenomegaly was not detected.
In the enzyme study, Total β-Hexosaminidase A and B 29 nmol / hour / mg protein
(N: 1223 ± 273 nmol / hour / mg protein) and in the HEXB gene study c.1341delT
homozygote mutation was detected. The patient was diagnosed with Sandhoff
disease, the family was informed about the disease and genetic counseling.
Unilateral photosensitive seizure and electroencephalography revealed focal
findings. In this case, the importance of diagnosis of ocular examination in
patients with suspected metabolic disease; It was aimed to draw attention to
the fact that Sandhoff disease may also be observed with atypical findings.

Anahtar Kelimeler

Sandhoff disease, Cherry red spot in macula, focal EEG sign, photosensitive seizure

Kaynakça

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