A Commonly Missed Well Known Entity-Acute Intermittent Porphyria: A Case Report

被引：6

作者：

Mohanlal, Smilu ^{[1
,2
]}

Ghildiyal, Radha Gulati ^{[1
,2
]}

Kondekar, Alpana ^{[1
,2
]}

Wade, Poonam ^{[1
,2
]}

Sinha, Richa ^{[1
,2
]}

机构：

[1] Topiwalla Natl Med Coll, Dept Pediat, 1st Floor,Coll Bldg, Mumbai 400008, Maharashtra, India

[2] BYL Nair Charitable Hosp, Mumbai, Maharashtra, India

来源：

JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH | 2016年 / 10卷 / 10期

关键词：

Abdominal pain; Posterior reversible encephalopathy syndrome; Seizures;

D O I：

10.7860/JCDR/2016/20464.8609

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Acute Intermittent Porphyria (AIP) usually presents with abdominal pain, peripheral neuropathy and psychiatric manifestations. Incidence of AIP being 5 in 1,00,000. We present a case of an 11-year-old male child with multiple cranial nerve involvement, quadriparesis, focal convulsions, hypertension, hyponatremia with history of recurrent abdominal pain. His complete haemogram, ultrasonography (USG) abdomen, renal function tests were normal, he was also evaluated for tuberculosis which was negative. On further evaluation Electroencephalography (EEG) was suggestive of a generalised seizure disorder, MRI Brain suggestive of Posterior Reversible Encephalopathy Syndrome (PRES), Electromyography revealed a sensory motor axonal polyneuropathy and urine UV fluoresence test was positive for porphobilinogen which clinched the diagnosis of AIP.

引用

收藏

页码：SD1 / SD2

页数：2

相关论文

共 11 条

[1] Recommendations for the diagnosis and treatment of the acute porphyrias [J].

Anderson, KE ;

Bloomer, JR ;

Bonkovsky, HL ;

Kushner, JP ;

Pierach, CA ;

Pimstone, NR ;

Desnick, RJ .

ANNALS OF INTERNAL MEDICINE, 2005, 142 (06) :439-450

[2] Posterior reversible encephalopathy syndrome, part 2: Controversies surrounding pathophysiology of vasogenic edema [J].

Bartynski, W. S. .

AMERICAN JOURNAL OF NEURORADIOLOGY, 2008, 29 (06) :1043-1049

[3] Clinically Important Features of Porphyrin and Heme Metabolism and the Porphyrias [J].

Besur, Siddesh ;

Hou, Wehong ;

Schmeltzer, Paul ;

Bonkovsky, Herbert L. .

METABOLITES, 2014, 4 (04) :977-1006

[4] MRI reveals reversible lesions resembling posterior reversible encephalopathy in porphyria [J].

Çelik, M ;

Forta, H ;

Dalkiliç, T ;

Babacan, G .

NEURORADIOLOGY, 2002, 44 (10) :839-841

[5] TRANSIENT CORTICAL BLINDNESS AND BIOCCIPITAL BRAIN-LESIONS IN 2 PATIENTS WITH ACUTE INTERMITTENT PORPHYRIA [J].

KUPFERSCHMIDT, H ;

BONT, A ;

SCHNORF, H ;

LANDIS, T ;

WALTER, E ;

PETER, J ;

KRAHENBUHL, S ;

MEIER, PJ .

ANNALS OF INTERNAL MEDICINE, 1995, 123 (08) :598-600

[6] The weight loss elicited by cobalt protoporphyrin is related to decreased activity of nitric oxide synthase in the hypothalamus [J].

Li, Muyao ;

Vizzard, Margaret A. ;

Jaworski, Diane M. ;

Galbraith, Richard A. .

JOURNAL OF APPLIED PHYSIOLOGY, 2006, 100 (06) :1983-1991

[7] Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France [J].

Nordmann, Y ;

Puy, H ;

DaSilva, V ;

Simonin, S ;

Robreau, AM ;

Bonaiti, C ;

Phung, LN ;

Deybach, JC .

JOURNAL OF INTERNAL MEDICINE, 1997, 242 (03) :213-217

[8] An update of clinical management of acute intermittent porphyria [J].

Pischik, Elena ;

Kauppinen, Raili .

APPLICATION OF CLINICAL GENETICS, 2015, 8 :201-214

[9] PORPHYRIN PRECURSORS AND PORPHYRINS IN THREE PATIENTS WITH ACUTE INTERMITTENT PORPHYRIA AND END-STAGE RENAL DISEASE UNDER DIFFERENT THERAPY REGIMES. [J].

Sardh, E. ;

Andersson, D. E. H. ;

Henrichson, A. ;

Harper, P. .

CELLULAR AND MOLECULAR BIOLOGY, 2009, 55 (01) :66-71

[10] The neurologic manifestations of the acute porphyrias [J].

Simon, Neil G. ;

Herkes, Geoffrey K. .

JOURNAL OF CLINICAL NEUROSCIENCE, 2011, 18 (09) :1147-1153