Worsening abdominal pain leading to false laparotomy: A case of acute intermittent porphyria.

IF 0.8 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL Journal of the Pakistan Medical Association Pub Date : 2024-11-01 DOI:10.47391/JPMA.10209
Tehreem Farah, Hania Batool, Nasir Ashraf, Fatima Qayyum Abbasi, Aisha Nasir
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Abstract

Acute intermittent porphyria (AIP), one of the most severe types of acute hepatic porphyria, is an autosomal dominant inherited disorder of heme biosynthesis. We present a case of a 16-year-old girl who presented with severe abdominal pain, subjected to a laparotomy and later developed seizures and other neurological manifestations. Initial investigations showed hyponatraemia. Magnetic Resonance Imaging of brain showed cerebritis. She underwent several investigations including an ultrasound of abdomen, a computed tomography scan of abdomen and pelvis, cerebrospinal fluid routine examination and culture, and autoimmune investigation which were found to be normal. Later urine porphobilinogen levels were found to be raised. The diagnosis was made based on investigation and clinical symptoms. AIP should be suspected when a patient presents with chronic abdominal pain and neurological symptoms.

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腹痛加剧导致假性开腹手术:一例急性间歇性卟啉症。
急性间歇性卟啉症(AIP)是急性肝性卟啉症最严重的类型之一,是一种常染色体显性遗传的血红素生物合成障碍性疾病。我们介绍了一例 16 岁女孩的病例,她因剧烈腹痛而接受开腹手术,随后出现癫痫发作和其他神经系统表现。初步检查显示为低钠血症。脑部磁共振成像显示患有脑炎。她接受了多项检查,包括腹部超声波检查、腹部和盆腔计算机断层扫描、脑脊液常规检查和培养以及自身免疫检查,结果均正常。后来发现尿卟啉原水平升高。诊断是根据检查和临床症状做出的。当患者出现慢性腹痛和神经系统症状时,应怀疑患有 AIP。
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来源期刊
CiteScore
1.10
自引率
11.10%
发文量
983
审稿时长
3-6 weeks
期刊介绍: Primarily being a medical journal, JPMA publishes scholarly research focusing on the various fields in the areas of health and medical education. It publishes original research describing recent advances in health particularly clinical studies, clinical trials, assessments of pathogens of diagnostic importance, medical genetics and epidemiological studies. Review articles highlighting importance of various issues in the domain of public health, drug research and medical education are also accepted. As a leading journal of South Asia, JPMA remains cognizant of the recent advances in the rapidly growing fields of biomedical sciences, it invites and encourages scholars to write short reviews and invited editorials on the emerging issues. We particularly aim to promote health standards of developing countries by encouraging manuscript submissions on issues affecting the public health and health delivery services.
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