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Clinical Review Regular review

Diagnosis and management of porphyria

BMJ 2000; 320 doi: (Published 17 June 2000) Cite this as: BMJ 2000;320:1647

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Diagnosis and management of porphyria

Sir - We read with interest the excellent review article on porphryia
by Thadani et al(1). However the authors do not mention transient cortical
blindness which is a recently reported clinical manifestation of acute
intermittent porphyria (AIP)(2).

Kupferschmidt et al(2) have reported two
cases of AIP in which transient cortical blindness was the presenting
feature followed by flaccid quadriparesis. The T-2 weighted MRI scan
showed reversible hyperintense lesions localised to occipital areas. In
AIP exact pathophysiology of cerebral lesions is not clear. Hypotheses put
forward implicate aminolaevulinic acid, tryptophan, serotonin, segmental
cerebral artery spasm, and segmental demyelination(3).It is speculated by
Kupferschmidt et al (2)
that deficiency of nitric oxide synthase, a emeprotein,leads to deficient
cerebral nitric oxide levels during acute exacerbations of AIP leading to
unopposed cerebral vasoconstriction.

*ajit singh KASHYAP

Associate Professor

Department of Medicine,
Armed Forces Medical College,
Pune 411 0450,



1.Thadani H, Deacon A, Peters T. Diagnosis and management of
porphyria. BMJ2000;320:1647-51.

2.Kupferschmidt H, Bont A, Schnorf H, Landis T, Walter E, Peter J.
Transient cortical blindness and bioccipital brain lesion in two patients
with acute intermittent porphyria. Ann Intern Med 1995; 123: 598-600.

3. Bottomley SS, Lee GR. Porphyria. In Eds: Lee GR, Foerster J,
Lukens, Praskevas F, Greer JP,Rodgers GM, et al. Wintrobe's Clinical
Hematology. 10 th edition, Williams and Wilkins company,

Competing interests: No competing interests

19 September 2000
Surekha Kashyap