[Clinical and neuroimaging features of central nervous system impairments in acute intermittent porphyria].
OBJECTIVE
To analyze the clinical and neuroimaging features of central nervous system impairments in acute intermittent porphyria, and explore the possible mechanisms.


METHODS
Six cases with intracranial lesions at our hospital from 1991 to 2011 and 13 cases reported in literatures were retrospectively reviewed.


RESULTS
The clinical manifestations of central nervous system impairments included seizures, unconsciousness and cortical blindness, etc. EEG (electroencephalogram) showed slow wave or normal. CSF (cerebrospinal fluid) test indicated slightly higher or normal level of CSF protein. Neuroimaging studies showed two types of intracranial lesions. One type (n = 4) mainly affected the cortex and subcortical white matter, especially involving white matter. Another type (n = 2) affected the deep nuclei such as caudate, putamen and thalamus symmetrically. The symptoms of 13 cases reported in literature with central nervous system impairments included unconsciousness, hallucinations, seizures and cortical blindness. Their neuroimaging manifestations were similar with those of the patients at our hospital. Two additional cases showed predominantly cerebral cortex lesions with no involvement of white matter.


CONCLUSIONS
Acute intermittent porphyria can affect central nervous system, peripheral nervous system and autonomic nervous system. The neuroimaging features of brain may be lesions located in cortex, subcortical white matter and deep nuclei with different mechanisms. A correct diagnosis and a treatment decision should be made during an early stage.
Department of Neurology, Chinese Academy of Medical Sciences, Beijing, China.
Jing
J
Yuan
Bin
B
Peng
Hui
H
You
Wei
W
Zhang
D000293:Adolescent; D002493:Central Nervous System Diseases / Q000209:etiology / Q000473:pathology*; D004569:Electroencephalography; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D059906:Neuroimaging; D017118:Porphyria, Acute Intermittent / Q000473:pathology*; D012189:Retrospective Studies; D055815:Young Adult