Brain magnetic resonance imaging white-matter lesions and cerebrospinal fluid findings in patients with acute intermittent porphyria.
BACKGROUND
Case reports display similarities between multiple sclerosis and acute intermittent porphyria (AIP). This study examines whether patients with AIP in general demonstrate white-matter lesions on brain magnetic resonance imaging (MRI) and/or abnormalities in plasma and/or cerebrospinal fluid (CSF) when examined outside attacks. We looked particularly for the presence of oligoclonal bands (OB) of immunoglobulin (Ig) in liquor.


METHODS
Eight AIP gene carriers without previous episodes of porphyria, mean age 42.8 years (range 30-60), and 8 AIP gene carriers with previous episodes of porphyria, mean age 42.8 years (range 33-62), were examined with brain MRI, venous blood samples and lumbar punctures.


RESULTS
Two male AIP gene carriers with previous episodes of porphyria, 58 and 35 years of age, had multiple white-matter, high-signal lesions on T(2)- weighted MRI sequences. Two AIP gene carriers without previous episodes of porphyria, 1 male and 1 female, had less than 5 such lesions. No OB were seen in the CSF in any patient, but 1 carrier had an increased level of protein in the CSF. Seven of 16 subjects (44%) had increased levels of HbA1c (>6.0), suggesting protracted hyperglycemia, and 3 further subjects had borderline levels (5.9).


CONCLUSIONS
T(2)-weighted MRI sequences demonstrated multiple white-matter, high-signal lesions in 4 out of 16 AIP gene carriers (25%). No carrier demonstrated OB of Ig in CSF, making it unlikely that demyelinating lesions play a pivotal role in the pathogenesis of CNS symptoms in AIP. Only 1 AIP gene carrier had an increased level of protein in CSF; this contrasts with studies during acute attacks of porphyria. Seven subjects (44%) had abnormally high levels of HbA1c, in spite of the fact that no patient had a previous diagnosis of diabetes mellitus.
Bylesjö
Ingemar
I
Department of Neurology, Nordland Central Hospital, Bodö, Norway. byle@hem.utfors.se
Brekke
Ole-Lars
OL
Prytz
Jan
J
Skjeflo
Trine
T
Salvesen
Rolf
R
D000328:Adult; D001369:Axons / Q000473:pathology*; D001921:Brain / Q000473:pathology*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D043025:Oligoclonal Bands / Q000097:blood / Q000134:cerebrospinal fluid*; D017118:Porphyria, Acute Intermittent / Q000097:blood* / Q000134:cerebrospinal fluid* / Q000473:pathology; D013129:Spinal Puncture
D043025:Oligoclonal Bands