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

Abstract

BACKGROUND:

Reversible 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.

RESULT:

In 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.

• Authors: Jing Yang, Fei Han, Qianlong Chen, Tienan Zhu, Yongqiang Zhao, Xuezhong Yu, Huadong Zhu, Jian Cao, Xiaoqing Li
• Journal: Orphanet journal of rare diseases (Orphanet J Rare Dis) Vol. 15 Issue 1 Pg. 98 (04 19 2020) ISSN: 1750-1172 [Electronic] England
• PMID: 32306994 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Hydroxymethylbilane Synthase

Topics

• Adult
• Brain Diseases
• Corpus Callosum
• Female
• Humans
• Hydroxymethylbilane Synthase (genetics)
• Mutation (genetics)
• Porphyria, Acute Intermittent (genetics)
• Young Adult