ÖZKarın ağrısı, çocuklarda sık görülen bir yakınmadır, cerrahi ve cerrahi dışı nedenleri mevcuttur. Ailesel Akdeniz ateşi, cerrahi dışı nedenler arasında yer almakta ve ateş yüksekliği, inflamatuar serozit ile seyretmektedir. Uzamış febril miyalji sendromu, Ailesel Akdeniz ateşi ile birlikte görülebilmektedir ve ilk kez 1994 yılında tanımlan-mıştır. Uzamış febril miyalji sendromunda yüksek ateş, miyalji, karın ağrısı, artrit/ artralji ve döküntüler görülebilmektedir. Bu makalede ateş yüksekliği ve karın ağrısı ile başvuran, takibinde eklenen kas ağrıları ile ilk atağı uzamış febril miyalji ve Ailesel Akdeniz ateşi tanısı alan bir olgu sunulmuştur. Uzamış febril miyalji sendromunun, Ailesel Akdeniz ateşinde atipik klinik belirtilerden biri olduğu ve ilk başvuruda görü-lebileceği vurgulanmak istenmiştir. Anahtar kelimeler: Ailesel Akdeniz ateşi, karın ağrısı, uzamış febril miyalji ABSTRACTAbdominal pain is a common complain in children which is caused by surgical and non-surgical reasons. Familial meditterian fever is one of the common non-surgical reasons and the most common syptoms are fever and inflammatory serositis. But one of the rare form is protracted febrile myalgia defined first time in 1944. This form may coexist with fever, myalgia, abdominal pain, athritis and athralgia. In this article, we presented a case with fever and abdominal pain, followed by muscular pain diagnosed as a protracted febrile myalgia syndrome and Familial Mediterranean Fever. It is emphasized that the prolonged febrile myalgia syndrome is one of the atypical clinical manifestations in the Familial Mediterranean Fever and may be seenat the first admission.
Mucolipidosis type II and III are autosomal recessive lysosomal storage disorders caused by the deficiency of the enzyme N-acetylglucosamine-1-phosphotransferase. In this case report we present a preterm born infant with significant developmental delay, secundum atrial septal defect, central hypothyroidism, inguinal hernia, hearing loss and chronic bronchopulmonery disease. She was evaluated for metabolic disorders because of her psychomotor retardation and diagnosed with mucolipidosis type II. Mucolipidosis type II is a very rare metabolic disorder. The presenting symptoms are very much like mucopolisaccaridosis type I but it has an early onset and there is no mucopolysaccariduria. So we should think of mucolipidosis type II in a relatively younger patient with symptoms like mucopolisaccaridosis type I.
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