Tuberoskleroz Tanısı ile İzlenen Hastaların Klinik Özellikleri: Tek Merkez Deneyimi

Öz

Özet Amaç: Nörokutanöz sendromlar sinir sistemini, cildi tutan hastalık grubudur. Bunların arasında en sık görülenlerden biri de tuberoskleroz’dur (TS). Bu çalışmanın amacı Celal Bayar Üniversitesi Çocuk Nörolojisi Polikliniğinde izlenen TS tanılı hastaların klinik özelliklerini değerlendirmektir. Gereç ve Yöntemler: Ocak 2005-Ocak 2023 tarihleri arasında TS tanılı toplam 23 hastanın dosya kayıtları geriye dönük olarak gözden geçirildi. Bulgular : Hastaların 9’u (%39) erkek, 14’ü (%61) kızdı. 1 hastada (%0,05) aile öyküsü mevcuttu. Hastaların hepsinde (%100) TS geninde mutasyon saptanmıştı. Hastaların tamamında hipomelanotik makül lekeleri mevcutken, shagren patch 4 hastada (%17), anjiofibroma 5 hastada (%21) rastlandı. 11 hastada (%47) kognitif bozukluklar, 11 hastada (%47) epilepsi vardı. Tartışma ve Sonuç: TS sinir sistemi, cilt gibi bir çok sistem tutulumu yapan geniş yelpazeli bir hastalıktır. Hastalar çok farklı klinik bulgular ile karşımıza çıkabilir. Epilepsi, öğrenme güçlüğü gibi nonspesifik yakınmalarla çocuk nörolojisi polikliniğine başvuran hastalar dikkatli bir göz ve deri muayenesi ile TS tanısı alabilir. Hastalığın klinik özelliklerinin sıklığının bilinmesi tanı konulmasında yardımcı olacaktır.

Anahtar Kelimeler

• Tuberosklerozis
• hipomelanotik makül
• klinik özellikler
• shagren patch
• anjiofibrom
• subependimal nodül

Clinical Characteristics of Patients Followed with Tuberous Sclerosis: Single Center Experience

Öz

Abstract Aim: Neurocutaneous syndromes are a group of diseases affecting the nervous system and skin. One of the most common among these is tuberous sclerosis (TS). This study aims to evaluate the clinical characteristics of patients diagnosed with TS followed at Celal Bayar University Child Neurology Polyclinic. Material and Methods: The medical records of 23 patients diagnosed with TS between January 2005 and January 2023 were retrospectively reviewed. Results: Out of the 23 patients studied, 9 (39%) were male, and 14 (61%) were female. Only one patient (0.05%) had a family history of the disease. All patients (100%) had a mutation in the TS gene. Although all patients had hypomelanotic macule spots, only four patients (17%) had shagren's patch, and five patients (21%) had angiofibroma. Almost half of the patients (47%) had cognitive disorders and epilepsy, with 11 patients affected in each case. Discussion and Conclusion: TS is a disease that affects various systems in the body, including the nervous system and skin. Due to the wide range of clinical findings, it is crucial to examine the patient's eyes and skin thoroughly. Children who visit a pediatric neurology outpatient clinic with vague symptoms such as epilepsy and learning disabilities may be diagnosed with TS. Knowledge of the frequency of clinical features associated with the disease can assist in making a diagnosis.

Anahtar Kelimeler

• Tuberous sclerosis
• hypomelanotic macule
• clinical features
• shagren
• angiofibroma
• subependymal nodule

Kaynakça

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