Acute intermittent porphyria (AIP) is a rare metabolic disorder that is the most common of the acute porphyries. Peripheral neuropathy occurs in 10%-40% of patients during an acute attack. A 25-year-old female presented with progressive quadriparesis for the last two weeks. Appendectomy and cholecystectomy operations were recorded in her past medical history because of abdominal pain attacks. She had acute motor polyneuropathy electroneuromyographic findings. Fluctuations in her liver function tests, tachycardia, high blood pressure, and hyponatremia were observed when she was staying in the hospital. She had a 24-hour urine porphobilinogen value of 48.4 mg, and a high-calorie diet with general nutritional support was started. During follow-up in the hospital, the patient's clinical symptoms improved gradually. AIP should be kept in mind in cases presenting with motor polyneuropathy even if the diagnosis was not done previously.
Keywords: Acute intermittent porphyria; motor polyneuropathy, progressive quadriparesis, peripheral nervous system
Akut intermitant porfiri (AIP), akut porfiriler arasinda en sik görülen nadir bir metabolik hastaliktir. Periferik nöropati, akut atak sirasinda hastalarin %10-40'inda görülür. 25 yasinda kadin son iki haftada olan ilerleyici kuadriparezi ile basvurdu. Özgeçmisinde karin agrisi ataklarindan dolayi apendektomi ve kolesistektomi operasyonu öyküsü saptandi. Elektronöromiyografik bulgularina göre akut motor polinöropati tespit edildi. Hastane yatisi sirasinda karaciger fonksiyon testlerinde dalgalanma, tasikardi, yüksek kan basinci ve hiponatremi gözlemlendi. 24 saatlik idrarda porfobilinojen degeri 48,4 mg geldi. Genel beslenme destegi ile yüksek kalorili diyet baslandi. Hastane takibi boyunca hastanin klinik semptomlari giderek düzeldi. AIP, tani daha önce konulmamis olsa bile motor polinöropati ile basvuran vakalarda akilda tutulmalidir.
Anahtar kelimeler: Akut intermitant porfiri, motor polinöropati, ilerleyici kuadriparezi, periferik sinir sistemi
The human porphyries indicate a wide variety of clinical symptoms according to the specific subtype and underlying enzymatic defect. Acute intermittent porphyria (AIP) is a rare metabolic disorder that is the most common of the acute porphyries and is characterized by enzymatic defect of porphobilinogen deaminase with depot and increased excretion of porphyrins and their precursors (1). AIP is the form that is most commonly associated with neurological disease, and it typically represents with autosomal dominant inheritance (2, 3). Both the central and peripheral nervous systems might be affected, and peripheral neuropathy occurs in 10%-40% of patients during an acute attack (4).
A 25-year-old female presented with progressive quadriparesis for the last two weeks. She did not have shortness of breath, difficulty in swallowing, sensory disturbances, or urine-fecal incontinence.
Appendectomy and cholecystectomy operations were recorded in her past medical history, and family history was unremarkable. In the physical examination, her pulse was 132/min and blood pressure was 166/110 mmHg, and scar marks were observed where she had undergone surgery in the abdominal area. Motor examination revealed quadriparesis to be more prominent in the upper extremities, and deep tendon reflexes were decreased bilaterally. No other physical or neurological abnormalities were observed. The patient was admitted with a diagnosis of acute motor polyneuropathy that was also...
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