Nörojenik Mesane: Rett Sendromunun Korunmuş Konuşma Varyantı (Zappella Varyantı) Olan Hastada Nadir Bir Otonom Belirti

Öz

Giriş-Amaç: Rett sendromu, konuşma ve anlamlı el hareketlerinin kaybı, yürüme sorunları ve tipik el stereotipleri ile karakterizedir. Konuşmanın korunduğu varyantı Rett sendromu (Zappella Variant), kelimelerden basit cümlelere kadar konuşmanın nispeten korunduğu daha az yaygın bir formdur. Rett sendromunda alt üriner sistem disfonksiyonu ve otonomik tutuluma bağlı nörojenik mesane nadiren rapor edilmiştir. Rett sendromunun nadir görülen bir formu olan korunmuş konuşma varyantı Rett sendromu olan bir hastada, literatürde çok nadir bildirilen otonomik disfonksiyona bağlı nörojenik mesaneyi vurgulamayı amaçladık. Vaka sunumu: İdrar yapamama nedeniyle 11 aylıkken şiddetli vezikoüreteral reflü ve nörojenik mesane tanısı konulan 7 yaşındaki kız hastanın, yoğun göz teması ve basmakalıp el ovuşturma hareketi sonrasında Rett sendromundan şüphelenildi. Hasta cümlelerle konuşabiliyor, yürüyebiliyor ve amaçlı el hareketleri yapabiliyordu. MECP2 geninin C terminal bölgesinde c.961C>T (p.Arg321Trp) mutasyonunun varlığı sanger dizilimi ile gösterildi. Hasta şu anda 13 yaşında özel eğitim almakta olup, çocuk nefrolojisi bölümünde kronik böbrek hastalığı açısından takip edilmeye devam etmektedir. Sonuç: Gelişimsel sorunları olan, konuşabilen, amaçlı el becerilerine sahip bir kadın hastada sterotipik el hareketleri ve yoğun göz teması varlığı Zappella varyantı Rett sendromuna işaret edebilir. Rett sendromu hastalarında ayrıca alt üriner sistem disfonksiyonu da görülebilir, ancak bu durum kalp, solunum ve gastrointestinal otonomik tutulumdan daha az görülür. Bu hastalarda intermittan idrar retansiyonu ve vezikoüreteral reflü gelişiminin otonomik tutuluma bağlı nörojenik mesane ile ilişkili olabileceği göz önünde bulundurulmalı ve komplikasyonlara karşı dikkatli olunmalıdır.

Anahtar Kelimeler

• Rett sendromu
• korunmuş konuşma varyantı
• nörojenik mesane
• otonom fonksiyon bozukluğu
• Zappella varyantı

Neurogenic Bladder: A Rare Autonomic Sign in a Patient With Preserved Speech Variant (Zappella Variant) Rett Syndrome

Öz

Background: Rett syndrome is characterized by the loss of speech and purposeful hand movements, ambulation problems, and typical hand stereotypies. Preserved speech variant Rett syndrome (Zappella Variant) is a much less common form where speech is relatively preserved, from words to simple sentences. Lower urinary tract dysfunction and neurogenic bladder due to autonomic involvement have been only rarely reported in Rett syndrome. We aimed to emphasize neurogenic bladder due to autonomic dysfunction, which has very rarely been reported in the literature, in a patient with preserved speech variant Rett syndrome, a rare form of the Rett syndrome. Case presentation: A 7-year-old female patient who had been diagnosed with severe vesicoureteral reflux and neurogenic bladder when 11 months old due to the inability to urinate was suspected of suffering from Rett syndrome after intense eye contact and the stereotypic movement of hand wringing were observed. The patient could talk with phrases and walk and had purposeful hand movements. The presence of the c.961C>T (p.Arg321Trp) mutation in the C terminal region of the MECP2 gene was demonstrated with Sanger sequencing. The patient is currently 13 years old and is receiving special education and continues to be monitored for chronic renal disease at the pediatric nephrology department. Conclusion: The presence of hand stereotypies and intense eye pointing could indicate the Zappella variant Rett syndrome in a female patient who has developmental problems, can talk, has purposeful hand skills. Rett syndrome patients can also have lower urinary tract dysfunction although this is less common than cardiac, respiratory and gastrointestinal autonomic involvement. The development of intermittent urinary retention and vesicoureteral reflux may be associated with neurogenic bladder caused by autonomic involvement should be considered in these patients and one must be aware of the complications.

Anahtar Kelimeler

• Rett syndrome
• preserved speech variant
• Zappella variant
• neurogenic bladder
• autonomic dysfunction

Kaynakça

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