Early-Onset Progressive Encephalopathy With Brain Oedema and/or Leukoencephalopathy 1: Report of three siblings

Authors

• Fatema Al-Amrani, Department of Child Health, Sultan Qaboos University Hospital, University Medical City, Muscat, Oman
• Fathiya Al-Murshedi, Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat, Oman
• Khalid Al-Thihli, Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat, Oman
• Eiman Al-Ajmi, Department of Radiology and Molecular imaging, Sultan Qaboos University Hospital, University Medical City, Muscat, Oman
• Buthaina Al-Musalhi, Family Medicine and Community Health, Pediatric Dermatology Unit, Sultan Qaboos University Hospital, University Medical City, Muscat, Oman
• Asmaa Al Shehhi, Department of Pathology, Sultan Qaboos University Hospital, University Medical City, Muscat, Oman
• Amna Al Futaisi, Department of Pathology, Sultan Qaboos University Hospital, University Medical City, Muscat, OmanFollow

Abstract

NAXE encephalopathy, also known as early-onset progressive encephalopathy with brain oedema and/or leukoencephalopathy-1 (PEBEL-1), is a rare and often lethal autosomal recessive mitochondrial disorder. Typical presentation includes psychomotor regression, ataxia, respiratory insufficiency and seizures triggered by febrile illness. This report describes three siblings from a consanguineous family who presented to a tertiary care hospital in Muscat, Oman, in 2022 and were found to have a homozygous pathogenic variant in the NAXE: NM_144772.2:c.827del, p.(Pro276Hisfs*43). Beyond the classic neuroradiological and clinical features of PEBEL-1, these patients exhibited novel phenotypic manifestations, including axonal polyneuropathy, Bull's eye maculopathy and a late-onset presentation of skin lesions. The identification of these features expands the known clinical spectrum of NAXE mutations and highlights the importance of considering this diagnosis in patients presenting with unexplained multisystemic mitochondrial symptoms involving the peripheral nerves and retina.

Article Type

Case Series

Publication Date

9-18-2026

First Page

522

Last Page

528

Creative Commons License

This work is licensed under a Creative Commons Attribution-No Derivative Works 4.0 International License.

Recommended Citation

Al-Amrani, Fatema; Al-Murshedi, Fathiya; Al-Thihli, Khalid; Al-Ajmi, Eiman; Al-Musalhi, Buthaina; Shehhi, Asmaa Al; and Futaisi, Amna Al (2026) "Early-Onset Progressive Encephalopathy With Brain Oedema and/or Leukoencephalopathy 1: Report of three siblings," Sultan Qaboos University Medical Journal: Vol. 26: 522-528.
DOI: https://doi.org/10.18295/2075-0528.3012