Reversible splenial lesion syndrome (RESLES) due to acute intermittent porphyria with a novel mutation in the hydroxymethylbilane synthase gene

Tienan Zhu,Xuezhong Yu,Huadong Zhu,Qianlong Chen,Fei Han,Jing Yang,Jian Cao,Xiaoqing Li,Yongqiang Zhao

doi:10.1186/s13023-020-01375-y

Abstract

BackgroundReversible splenial lesion syndrome (RESLES) is a clinico-radiological syndrome characterized by the presence of reversible lesions specifically involving the splenium of the corpus callosum (SCC). The cause of RESLES is unknown. However, infectious-related mild encephalitis/encephalopathy (MERS) with a reversible splenial lesion remains the most common cause of reversible splenial lesions. Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by a partial deficiency of porphobilinogen deaminase (PBGD), the third enzyme in the heme biosynthetic pathway. It can affect the autonomic, peripheral, and central nervous system.ResultIn this study, we report a 20-year-old woman with AIP who presented with MRI manifestations suggestive of RESLES, she had a novel HMBS nonsense mutation, a G to A mutation in base 594, which changed tryptophan to a stop codon (W198*). Conclusion: To the best of our knowledge, this is only one published case of RELES associated with AIP.

Highlights

Acute intermittent porphyria (AIP) is a rare autosomal dominant disorder affecting heme biosynthesis
AIP is caused by a partial deficiency of porphobilinogen deaminase (PBGD) (alternative name hydroxymethylbilane synthase (HMBS)), which is the third enzyme in the heme biosynthetic pathway
After 4 days of treatment with 250 g of intravenous glucose per day and fluid restriction (

Summary

Introduction

Acute intermittent porphyria (AIP) is a rare autosomal dominant disorder affecting heme biosynthesis. Reversible splenial lesion syndrome (RESLES, sometimes named MERS), first identified by Tada et al [3], is a. Reversible splenial lesion syndrome (RESLES) is a clinico-radiological syndrome characterized by the presence of reversible lesions involving the splenium of the corpus callosum (SCC). Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by a partial deficiency of porphobilinogen deaminase (PBGD), the third enzyme in the heme biosynthetic pathway. It can affect the autonomic, peripheral, and central nervous system

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Discussion

Conclusion