Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Orphanet journal of rare diseases - 19 Apr 2020

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

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Brain Diseases
Share to Corpus Callosum

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hydroxymethylbilane Synthase

Share to Mutation

Share to Porphyria, Acute Intermittent

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 32306994
DOI: 10.1186/s13023-020-01375-y
PMCID: PMC7168860

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Reversible splenial lesion syndrome (RESLES) due to acute intermittent porphyria with a novel mutation in the hydroxymethylbilane synthase gene.PMID 32306994Read ↗

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

A novel heterozygous mutation in the HMBS gene in a patient with acute intermittent porphyria and posterior reversible encephalopathy syndrome.Semantic proximity Read ↗

Novel Mutation of Hydroxymethylbilane Synthase in a Case of Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome.Semantic proximity Read ↗

Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations.Semantic proximity Read ↗

Updates on the diagnosis and management of the most common hereditary porphyrias: AIP and EPP.Semantic proximity Read ↗

Acute intermittent porphyria-related leukoencephalopathy.Semantic proximity Read ↗

Severe peripheral neuropathy secondary to acute intermittent porphyria caused by a rare HMBS gene mutation: a case report.Semantic proximity Read ↗

Cytotoxic Lesion of Corpus Callosum (CLOCCs) in a Patient with Ebstein-Barr Infection- Case -Report and Literature ReviewSemantic proximity Read ↗

Acute Intermittent Porphyria: Complete Phenotype in a Patient with p.Arg173Trp Variant in Thailand.Semantic proximity Read ↗

Reversible splenial lesion syndrome induced by paracetamol and lithium: two case reportsSemantic proximity Read ↗

Mild Encephalitis/Encephalopathy with a Reversible Splenial Lesion After Varicella Zoster VirusSemantic proximity Read ↗

Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.