Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome, Reversible Cerebral Vasoconstriction Syndrome and Myocardial Ischemia: A Case Report and Review

Abstract

Acute intermittent porphyria is a rare autosomal dominant metabolic disorder. It can affect the autonomic, peripheral, and central nervous system. The present study reports on the case of 28-year-old Chinese female patient with posterior reversible encephalopathy syndrome, reversible cerebral vasoconstriction syndrome and myocardial ischemia which have been very rarely reported in patients with acute intermittent porphyria.

Keywords: acute intermittent porphyria; epilepsy; myocardial ischemia; posterior reversible encephalopathy syndrome; reversible cerebral vasoconstriction syndrome.

Figure 1

MRI and MRA findings obtained on the 2nd day. Symmetric lesions in the frontal, parietal, and occipital lobes and cerebellar hemispheres showed hypointense on T1-weighted images (A, E and I), hyperintense on T2-weighted images (B, F and J) and FLAIR images (C, G and K), isointense or slight hypointense (D, H and L), on DWI. The distal portion of right vertebral artery was visualized ambiguously, and the left vertebral artery presented one aneurysmal dilation (M).

Figure 2

Dynamic evolution of ECG ECG findings obtained on the 4th day (A and B), 5th day (C), 11th day (D). (A) showed slight ST-segment depression in limb leads and bidirectional change in the chest leads. (B and C) showed pathological Q wave in II, III and aVF leads and ST-segment arch like elevation in the chest leads. On the 11th day, all these changes improved (D).

Figure 3

Urine samples before (A) and after (B) exposure to sunlight. Her urine turned darker and redder upon exposure to light, and improved after 1 day of high-glucose administration (C).

Figure 4

Dynamic evolution of MRI and MRA. The lesions observed on the 2nd day (A–D) were improved on the 14th day (F–I). The vasoconstriction observed on the 2nd day (E) spreads to the whole right vertebral artery, ACA, MCA and PCA on the 14th day (J). As with the improvement in the MRI findings, the constriction of right vertebral artery, ACA, MCA, and PCA was nearly normalized on the 36th day (K–O), except the exacerbating of the aneurysmal dilation in left vertebral artery which improved on the 1 year of onset (P–T).

Figure 5

Gene analysis revealed a heterozygous Mutation involving intron 11 (c.772–20A>C) of HMBS in the patient (A), the mutation was identified in the patient’s father (B), but not in the patient’s mother (C) (as shown in red circle).