Neurol. praxi. 2026;27(4):313-318 | DOI: 10.36290/neu.2025.075

A rare case of progressive mitochondrial disease in childhood: a case report

MUDr. Stanislava Suroviaková, PhD.¹, MUDr. Adam Markocsy, PhD.^{1, 3}, MUDr. Matúš Igaz¹, MUDr. Otília Petrovičová, PhD.^{1, 3}, MUDr. Vladimír Zoľák, PhD.¹, MUDr. Babeta Hofericová², prof. MUDr. Peter Bánovčin, CSc.¹, prof. MUDr. Miloš Jeseňák, PhD., MBA, Dott. Ric., MHA^{1, 3}

¹ Klinika detí a dorastu, Jesseniova lekárska fakulta v Martine, Univerzita Komenského v Bratislave, Univerzitná nemocnica Martin

² Neurologická klinika, Jesseniova lekárska fakulta v Martine, Univerzita Komenského v Bratislave, Univerzitná nemocnica Martin

³ Ústav klinickej imunológie a lekárskej genetiky, Jesseniova lekárska fakulta v Martine, Univerzita Komenského v Bratislave, Univerzitná nemocnica Martin

Mitochondrial diseases are caused by dysfunction of mitochondrial DNA or its regulatory mechanisms. Mutations in the POLG gene, encoding mitochondrial DNA polymerase gamma, are the most common genetic cause of these disorders, leading to a broad spectrum of phenotypes. One of the most severe manifestations is Alpers-Huttenlocher syndrome (AHS), characterized by refractory epilepsy, progressive encephalopathy, and hepatic insufficiency. In this article, we present a case study of a 6-year-old female patient with a genetically confirmed homozygous POLG mutation who experienced a sudden onset of focal seizures with rapid neurological deterioration. Despite intensive treatment, the disease progressed to epilepsia partialis continua, multiple organ failure, and eventual death. This case highlights the phenotypic variability of POLG-associated disorders and the diagnostic challenges in their early recognition. The identification of characteristic EEG patterns and neuroimaging findings may be crucial for the timely diagnosis of patients suspected of having AHS.

Keywords: Alpers-Huttenlocher syndrome, epilepsy, mitochondria, POLG gene.

Received: June 8, 2025; Revised: October 9, 2025; Accepted: October 10, 2025; Prepublished online: October 10, 2025; Published: October 2, 2026  Show citation