Abdominal Findings Associated with Tuberous Sclerosis Complex: Perspective From Radiology

Abstract

Tuberous sclerosis complex (TSC) is a multisystemic neurocutaneous disease with autosomal dominant inheritance. The disease occurs as a result of mutations in the TSC1 (9q34) and TSC2 (16p13.3) genes. There is wide variability in the presentation and severity of clinical manifestations due to the severity of mutations. The disease is characterized by hamartomas particularly affecting the central nervous system and also the skin, retina, kidney, heart and lungs. There are some diagnostic criteria including clinical and radiological findings. Radiology has an essential role in both the diagnosis and follow-up of the disease. Renal angiomyolipomas, which are associated with renal hamartomas from abdominal involvement, constitute a primary part of the abdominal effect of TSC and are among the major diagnostic criteria. Renal cysts are rare and also among the minor diagnostic criteria. Other than renal involvement, there may be disease-related involvement in the abdominal region, such as the gastrointestinal tract, which is not included in the diagnostic criteria but clinically revelant. In this review, radiological findings of abdominal involvement of TSC are presented.

Keywords

• Tuberous sclerosis,angiomyolipoma,renal cyst

Tüberskleroz ile İlişkili Abdominal Bulgular: Radyolojik Açıdan Bakış

Öz

Tüberoskleroz kompleksi otozomal dominant kalıtım gösteren multisistemik nörokutanöz bir hastalıktır. Hastalık TSC1 (9q34) ve TSC2 (16p13.3) genlerinde gerçekleşen mutasyonlar sonucunda meydana gelmektedir. Mutasyonun şiddetine bağlı olarak klinik bulgular da değişkenlik göstermektedir. Başta santral sinir sistemi olmak üzere deri, retina, böbrek, kalp ve akciğerleri etkileyen hamartomlar ile karakterizedir. Klinik ve radyolojik bulguları içeren bazı tanı kriterleri mevcuttur. Hastalığın hem tanı hem de takibinde radyoloji önemli bir rol oynamaktadır. Abdominal bölge tutulumlarından böbrek hamartomları ile ilişkili olan renal anjiyomyolipomlar tuberosklerozun abdominal etkisinin büyük bir kısmını oluşturmaktadır ve major tanı kriterleri arasında yer almaktadır. Renal kistler ise daha nadir olup minör tanı kriterleri arasındadır. Renal tutulum dışında tanı kriterlerinde yer almayan ancak klinik olarak önem arz eden gastrointestinal sistem gibi abdominal bölgede hastalıkla ilişkili tutulumlar olabilmektedir. Bu derlemede tuberosklerozun abdominal tutulumunun radyolojik bulgularına yer verilmiştir.

Anahtar Kelimeler

• Tüberoskleroz,anjiomiyolipom,renal kist

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