Case report links compound heterozygous NDUFS1 variants to severe axonal polyneuropathy in an adolescent boy

A case report describes a young adolescent boy with an atypical and severe axonal sensorimotor polyneuropathy associated with compound heterozygous variants in the NDUFS1 gene. His parents were non-consanguineous, and his metabolic workup was negative, according to the report’s abstract.

Molecular genetic analysis identified the variants as a rare form of mitochondrial complex I deficiency. One variant had previously been annotated in ClinVar as a variant of uncertain significance, while the other was described as novel. The abstract reports these findings without providing details about the analyses performed or the patient’s subsequent course.

The authors characterize the presentation as unusual because prominent axonal neuropathy occurred without evident systemic metabolic dysfunction. They conclude that the case expands the phenotypic and genetic spectrum linked to NDUFS1-related disorders, highlighting a rare and atypical manifestation of mitochondrial complex I deficiency.

Because this is a single-patient case report, the findings are limited to the clinical and genetic observations reported in that case and do not establish the frequency, range, or broader clinical course of this presentation. The supplied abstract also does not report treatment, long-term outcomes, or recommendations for clinical management; assessing the complete methods and other case details would require the full article.

Subject of Research: A case report of compound heterozygous NDUFS1 variants associated with atypical axonal sensorimotor polyneuropathy in one adolescent boy.

Article Title: Axonal polyneuropathy: compound heterozygous mutations in NDUFS1—a case report

Article References: Sawaya, R. A., Bannout, A. A., Makhoul, N. J., Karam, P., & Boustany, R.-M. (2026). Axonal polyneuropathy: compound heterozygous mutations in NDUFS1—a case report. BMC Pediatrics. https://doi.org/10.1186/s12887-026-07687-5

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DOI: 10.1186/s12887-026-07687-5

Keywords: NDUFS1, axonal polyneuropathy, sensorimotor polyneuropathy, mitochondrial complex I deficiency, compound heterozygous variants, case report, genetic diagnosis, ClinVar, Axonal, polyneuropathy, compound, heterozygous