Olgu Sunumu
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Çocuklarda Konvulsiyonun Nadir Bir Nedeni Akut İntermittan Porfiria: Olgu Sunumu

Yıl 2022, Cilt: 4 Sayı: 3, 132 - 134, 29.10.2022
https://doi.org/10.52827/hititmedj.986612

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.

Kaynakça

  • 1. Puy H, Gouya L, Deybach JC. Porphyrias. Lancet, 2010;375:924-937
  • 2. Kumar S, Sharma N, Modi M, Sharma A, Mahi S, Varma S. Spectrum of emergency department presentation in patients of acute intermittent porphyria: experiencefrom a North Indiantertiary care center. NeurolIndia, 2010;58(1):95-98.
  • 3. Elder G, Harper P, Badminton M, et al. The incidence of inherited prhphyrias in Europe. J InheritMetabDis, 2013;36(5):849-857.
  • 4. Gross U, Sassa S, Jacob K, et al. 5-aminolevulinic acid dehydratase deficiency porphyria: a twenty-year clinical and biochemical follow-up. ClinChem, 1998; 44: 1892-1896.
  • 5. Tishler PV. The effect of therapeutic drugs and other pharmacologic agents on activity of porphobilinogen deaminase, he enzymethat is deficient in intermittent acute porphyria. Life Sci, 1999; 65: 207-214.
  • 6. Chesney RW, Chesney t. Disorders of porphyrin, pürine and pyrimidine metabolism. IN: Burg FD, İngelfinger JR, Wald ER (eds). Gellis and Kagan’s Current Pediatric Therapy (14thed). Philadelphia: WB Saunders, 1993:334-337.
  • 7. Fugate J.E., Rabinstein A.A. Posterior reversible encephalopathy syndrome: clinical and radiological manifestations, pathophysiology, and outstanding questions. Lancet Neurol. 2015;14(9):914–925.
  • 8. Won SC, Kwon SY, Han JW, et al. Posterior reversible encephalopathy syndrome in childhood with hematologic/oncologic diseases. Journal of Pediatric Hematology/Oncology, 2009;31(7):505-508.
  • 9. A Hinduja. Posterior reversible encephalopathy syndrome: clinical features and outcome. Frontiers in neurology , 2020, 11: 71.
  • 10. Pischik E, Kauppinen R. Neurological manifestations of acute intermittent porphyria. Cell MolBiol (Noisy-le-grand). 2009;55(1):72–83.
  • 11. S. Yoon, B. Cho, S. Oh, et al. Clinical and Radiological Spectrum of Posterior Reversible Encephalopathy Syndrome. J Cerebrovasc Endovasc Neurosurg, 2013; 15(3): 206–213.

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

Yıl 2022, Cilt: 4 Sayı: 3, 132 - 134, 29.10.2022
https://doi.org/10.52827/hititmedj.986612

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.

Kaynakça

  • 1. Puy H, Gouya L, Deybach JC. Porphyrias. Lancet, 2010;375:924-937
  • 2. Kumar S, Sharma N, Modi M, Sharma A, Mahi S, Varma S. Spectrum of emergency department presentation in patients of acute intermittent porphyria: experiencefrom a North Indiantertiary care center. NeurolIndia, 2010;58(1):95-98.
  • 3. Elder G, Harper P, Badminton M, et al. The incidence of inherited prhphyrias in Europe. J InheritMetabDis, 2013;36(5):849-857.
  • 4. Gross U, Sassa S, Jacob K, et al. 5-aminolevulinic acid dehydratase deficiency porphyria: a twenty-year clinical and biochemical follow-up. ClinChem, 1998; 44: 1892-1896.
  • 5. Tishler PV. The effect of therapeutic drugs and other pharmacologic agents on activity of porphobilinogen deaminase, he enzymethat is deficient in intermittent acute porphyria. Life Sci, 1999; 65: 207-214.
  • 6. Chesney RW, Chesney t. Disorders of porphyrin, pürine and pyrimidine metabolism. IN: Burg FD, İngelfinger JR, Wald ER (eds). Gellis and Kagan’s Current Pediatric Therapy (14thed). Philadelphia: WB Saunders, 1993:334-337.
  • 7. Fugate J.E., Rabinstein A.A. Posterior reversible encephalopathy syndrome: clinical and radiological manifestations, pathophysiology, and outstanding questions. Lancet Neurol. 2015;14(9):914–925.
  • 8. Won SC, Kwon SY, Han JW, et al. Posterior reversible encephalopathy syndrome in childhood with hematologic/oncologic diseases. Journal of Pediatric Hematology/Oncology, 2009;31(7):505-508.
  • 9. A Hinduja. Posterior reversible encephalopathy syndrome: clinical features and outcome. Frontiers in neurology , 2020, 11: 71.
  • 10. Pischik E, Kauppinen R. Neurological manifestations of acute intermittent porphyria. Cell MolBiol (Noisy-le-grand). 2009;55(1):72–83.
  • 11. S. Yoon, B. Cho, S. Oh, et al. Clinical and Radiological Spectrum of Posterior Reversible Encephalopathy Syndrome. J Cerebrovasc Endovasc Neurosurg, 2013; 15(3): 206–213.
Toplam 11 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Konular Klinik Tıp Bilimleri
Bölüm Olgu Sunumu
Yazarlar

Aysen Türedi Yıldırım 0000-0002-4451-5108

Arzu Polat 0000-0002-0397-7074

Havva Yazıcı 0000-0002-2564-7420

Özlem Acar 0000-0001-8226-6539

Yayımlanma Tarihi 29 Ekim 2022
Gönderilme Tarihi 24 Ağustos 2021
Kabul Tarihi 11 Şubat 2022
Yayımlandığı Sayı Yıl 2022 Cilt: 4 Sayı: 3

Kaynak Göster

AMA Türedi Yıldırım A, Polat A, Yazıcı H, Acar Ö. Çocuklarda Konvulsiyonun Nadir Bir Nedeni Akut İntermittan Porfiria: Olgu Sunumu. Hitit Medical Journal. Ekim 2022;4(3):132-134. doi:10.52827/hititmedj.986612