Severe porphyric neuropathy – Importance of screening for porphyria in Guillain-Barré syndrome

South African Medical Journal

Volumn 106, Issue 1, 2016, Pages 44-47

  Schutte, C M ^a   van der Meyden, C H ^b   van Niekerk, L ^b   Kakaza, M ^b   van Coller, R ^b   Ueckermann, V ^c   Oosthuizen, N M ^a  

^a UNIVERSITY OF PRETORIA   (South Africa)

^b Steve Biko Academic Hospital and University of Pretoria ^*

^c STEVE BIKO ACADEMIC HOSPITAL   (South Africa)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN; PORPHOBILINOGEN; PORPHYRIN;

ABDOMINAL PAIN; ADULT; AGED; ARTICLE; ARTIFICIAL VENTILATION; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; COLD SENSATION; CONFUSION; ELECTROMYOGRAPHY; ELECTROPHYSIOLOGY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GUILLAIN BARRE SYNDROME; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; HYPONATREMIA; MALE; MUSCLE ACTION POTENTIAL; NEUROPATHY; PARESTHESIA; PORPHYRIA; QUADRIPLEGIA; SEVERE PORPHYRIC NEUROPATHY; COMPLICATION; DIFFERENTIAL DIAGNOSIS; GUILLAIN-BARRE SYNDROME; PORPHYRIA, VARIEGATE;

ADULT; AGED; DIAGNOSIS, DIFFERENTIAL; FEMALE; GUILLAIN-BARRE SYNDROME; HUMANS; MALE; PORPHYRIA, VARIEGATE;

EID: 84952361952     PISSN: 02569574     EISSN: None     Source Type: Journal    
DOI: 10.7196/SAMJ.2016.v106i1.10118     Document Type: Article

References (17)

1. Puy H, Gouya L, Deybach J-C. Porphyrias. Lancet 2010;375(9718):924-937. http://dx.doi.org/10.1016/S0140-6736(09)61925-5
2. Floderus Y, Shoolingin-Jordan PM, Harper P. Acute intermittent porphyria in Sweden: Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene. Clin Genet 2002;62(4):288-297. http://dx.doi.org/10.1034/j.1399-0004.2002.620406.x
3. Meissner PN, Dailey TA, Hift RJ, et al. A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria. Nat Genet 1996;13(1):95-97. http://dx.doi.org/10.1038/ng0596-95
4. Albers JW, Fink JK. Porphyric neuropathy. Muscle Nerve 2004;30(4):410-422. http://dx.doi.org/10.1002/mus.20137
5. Nia S. Psychiatric signs and symptoms in treatable inborn errors of metabolism. J Neurol 2014;261(2):559-568. http://dx.doi.org/10.1007/s00415-014-7396-6
6. Ridley A. Porphyric neuropathy. In: Dyck PJ, Thomas PK, Lambert EH, Bunge R, eds. Peripheral Neuropathy. Philadelphia: Saunders, 1984:1704-1716.
7. Hift RJ, Meissner PN. An analysis of 112 acute porphyric attacks in Cape Town, South Africa: Evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity. Medicine 2005;84(1):48-60. http://dx.doi.org/10.1097/01.md.0000152454.56435.f3
8. The Guillain-Barré Syndrome Study Group. Plasmapheresis and acute Guillain-Barré syndrome. Neurology 1985;35(8):1096-1104.
9. Albers JW, Robertson WC, Daube JR. Electrodiagnostic findings in acute porphyric neuropathy. Muscle Nerve 1978;1(4):292-296. http://dx.doi.org/10.1002/mus.880010405
10. Flügel KA, Druschky KF. Electromyogram and nerve conduction in patients with acute intermittent porphyria. J Neurol 1977;214(4):267-279. http://dx.doi.org/10.1007/BF00316572
11. Kuo H-C, Lee M-J, Chuang W-L, Huang C-C. Acute intermittent porphyria with peripheral neuropathy: A follow-up study after hematin treatment. J Neurol Sci 2007;260(12):231-235. http://dx.doi.org/10.1159/000330683
12. Miller RG, Peterson GW, Daube JR, Albers JW. Prognostic value of electrodiagnosis in Guillain-Barré syndrome. Muscle Nerve 1988;11(7):769-774. http://dx.doi.org/10.1002/mus.880110714
13. Wikberg A, Andersson C, Lithner F. Signs of neuropathy in the lower legs and feet of patients with acute intermittent porphyria. J Intern Med 2000;248(1):27-32. http://dx.doi.org/10.1046/j.1365-2796.2000.00697.x
14. Albertyn CH, Sonderup M, Bryer A, Corrigall A, Meissner P, Heckmann M. Acute intermittent porphyria presenting as progressive muscular atrophy in a young black man. S Afr Med J 2014;104(4):283-285. http://dx.doi.org/10.7196/SAMJ.7785
15. Muthane UB, Vengamma B, Bharathi KC, Mamatha P. Porphyric neuropathy: Prevention of progression using haeme-arginate. J Intern Med 1993;234(6):611-613. http://dx.doi.org/10.1111/j.1365-2796.1993.tb01022.x
16. Anderson KE, Bloomer JR, Bonkovsky HL, et al. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med 2005;142(6):439-450. http://dx.doi.org/10.7326/0003-4819-142-6-200503150-00010
17. Pavitt CW, Rampling T, Byrne R, Tyebally S, Reid T, Nelson M. Acute porphyria precipitated by efavirenz. AIDS 2015;29(8):981-982. http://dx.doi.org/10.1097/QAD.0000000000000615