Importance of Screening Acute Intermittent Porphyria in Severe Sensorimotor Polyneuropathy Misdiagnosed as Guillain-Barré Syndrome: A Case Report

다국어 초록 (Multilingual Abstract)

Acute intermittent porphyria (AIP) is a rare genetic disorder. Its clinical manifestations include abdominal pain, neurological symptoms, and sensorimotor polyneuropathy. Herein we report the case of a 23-year-old woman who first presented with abdominal pain, followed by severe sensorimotor polyneuropathy, which was first reckoned as Guillain-Barré Syndrome (GBS) or critical illness polyneuropathy (CIP). Her clinical findings and laboratory data corresponded to AIP, which can cause severe peripheral axonal polyneuropathy, that is, porphyric neuropathy. On the basis of a review of the present case, we confirmed that porphyric neuropathy should be considered as a differential diagnosis in patients with an acutely progressing severe symmetric sensorimotor polyneuropathy with particular similarities to GBS or CIP because considerable recovery can be expected in patients with porphyric neuropathy who receive an early diagnosis and treatment.

참고문헌 (Reference)

1 Schutte CM, "Severe porphyric neuropathy-Importance of screening for porphyria in Guillain-Barré syndrome" 106 : 44-47, 2016

2 Kuo HC, "Porphyric neuropathies in an acute intermittent porphyria family" 36 : 290-294, 2016

3 Karim Z, "Porphyrias: A 2015 update" 39 : 412-425, 2015

4 Kauppinen R, "Porphyrias" 365 : 241-252, 2005

5 Çelik M, "MRI reveals reversible lesions resembling posterior reversible encephalopathy in porphyria" 44 : 839-841, 2002

6 Kwon KH, "Diagnosis and Immunotherapy of guillain-barre syndrome" 4 : 42-46, 2011

7 Hermans G, "Clinical review: critical illness polyneuropathy and myopathy" 12 : 238-, 2008

8 Pischik E, "Clinical features predictive of a poor prognosis in acute porphyria" 251 : 1538-1541, 2004

9 Alqwaifly M, "Acute intermittent porphyria: a report of 3 cases with neuropathy" 4 : 32-36, 2019

10 Mutluay B, "A case of acute intermittent porphyria mimicking Guillain-Barré syndrome" 56 : 311-312, 2019