Author

K. Al-Thihli

3 papers indexed here

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Review Open access Sep 2026

Spectrum of Hereditary Ataxia in Omani Children

Background/Objectives: Hereditary ataxias are a genetically and phenotypically heterogeneous group of neurodegenerative disorders that often pose diagnostic challenges. This study characterized the spectrum of hereditary ataxias encountered at our institution and identified phenotypic patterns that may facilitate early...

Amal Al-Habsi, K. Al-Thihli, E. Al-Ajmi et al. · Journal of Clinical Medicine · 0 citations

Open access Sep 2026

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

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 feb...

Fatema Al-Amrani, F. Al-Murshedi, K. Al-Thihli et al. · Sultan Qaboos University Med... · 0 citations

Open access Sep 2026

Pediatric stroke in inborn errors of metabolism: clinical characteristics, neuroimaging features, and short-term outcomes

Introduction Pediatric stroke has a broad etiological spectrum, with inborn errors of metabolism (IEM) increasingly recognized as an important and potentially treatable cause. This study aimed to characterize the clinical, radiological, and electroencephalographic features of IEM-related pediatric stroke and to evaluat...

J. Alvi, Areeba Wasim, Saher Gul Ahdi et al. · Frontiers in Neurology · 0 citations