Çocuklarda Konvulsiyonun Nadir Bir Nedeni Akut İntermittan Porfiria: Olgu Sunumu

Öz

Porfiriler hem biyosentezinde görevli enzimlerin doğuştan yada kazanılmış bozukluğu, yada eksikliği sonucu oluşan, periferik ve santral sinir sistemini etkileyebilen, farklı alt tipleri olan, nadir görülen metabolik hastalıklardır. Akut intermittan porfiri, porfirilerin en yaygın görülen tipidir ve nöropsikyatrik belirtilerle birlikte açıklanamayan karın ağrısı olan hastalarda ayırıcı tanıda düşünülmelidir. Posterior reversible ensefalopati sendromu (PRES) ise baş ağrısı, mental durum değişiklikleri, görme bozuklukları, mide bulantısı, parezi ve yaygın nöbetler gibi semptomlara hipertansiyonun eşlik ettiği klinik ve radyolojik bir durumdur. Bu yazıda karın ağrısı ve konvulsiyon nedeni ile acil servise başvuran, sonrasında akut intermittan porfiri ve akut intermittan porfiri ile ilişkili PRES tanısı alan hasta, nadir görülmesi nedeni ile sunulmuştur.

Anahtar Kelimeler

• akut intermittan porfiri
• posterior reversible ensefalopati
• konvulsiyon
• karın ağrısı.

A Rare Cause of Convulsions in Children Acute Intermittent Porphyria: A Case Report

Öz

Porphyrias are rarely seen metabolic diseases with collateral types which are formed during the changes in enzyme activities during heme biosynthesis and which can affect peripheral and central nervous system. Acute intermittent porphyria is the most common type of porphyria. Porphyria is an important differential diagnosis in patients with unexplained abdominal pain along with neuro-psychiatric manifestations. Posterior reversible encephalopathy syndrome (PRES) is a clinical and radiologic case which has symptoms of headache, altered mental status, visual disorders, paresis, nausea, extensive seizures next to hypertension. In this article, a patient who was admitted to the emergency department with convulsion and abdominal pain and was diagnosed with PRES associated with acute intermittent porphyria and acute intermittent porphyria is presented because of its rare occurrence.

Anahtar Kelimeler

• Acute intermittent porphyria
• posterior reversible encephalopathy syndrome
• seizures
• abdominal pain

Kaynakça

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