BACKGROUND MEGDEL (3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome) syndrome is a mitochondrial disorder associated with recessive mutations in SERAC1. OBJECTIVES To report transient neonatal renal findings in MEGDEL syndrome. RESULTS This 7 year-old girl was the first child of consanguineous Turkish parents. She exhibited an acute neonatal deterioration w...

With interestwe read the article by Zanolini et al. about a 21 yomale with exercise-intolerance since age 7 y, recurrent vomiting since age 17 y, muscle wasting, decreased tendon reflexes, high-arched palate and mal-occlusion detected at age 20 y, exercise-induced supraventricular tachycardia, and lactic acidosis due to a ND2 mutation [1]. The patient profited from coenzyme-Q [1]. We have the f...

BACKGROUND The clinical characteristics distinguishing treatable thiamine transporter-2 deficiency (ThTR2) due to SLC19A3 genetic defects from the other devastating causes of Leigh syndrome are sparse. METHODS We report the clinical follow-up after thiamine and biotin supplementation in four children with ThTR2 deficiency presenting with Leigh and biotin-thiamine-responsive basal ganglia dise...

We report 2 children (patients 1 and 2) with Kearns-Sayre syndrome and 1 (patient 3) with Leigh syndrome, who underwent serial diffusion-weighted MR imaging (DWI) studies for 2.8 (patient 1), 4.2 (patient 2), and 1.0 years (patient 3). The DWI revealed the persistent hyperintense signals in the pontine and mesencephalic tegmenta. The apparent diffusion coefficient in the affected regions remain...

in the mitochondrial DNA (mtDNA) that lead to oxidative phosphorylation impairment, ATP depletion, cellular dysfunction, and ultimately cell death [1]. Most mitochondrial diseases involve impairment of multiple organs, particularly in tissues with a high energy demand such as nerve and muscle. Identification of causative mutations in patients with Leigh syndrome and MERRF by mitochondrial DNAta...

Keywords Disease name and synonyms Diagnostic criteria/definition Differential diagnosis Etiology Clinical description Diagnostic methods Genetic counseling Prenatal diagnosis Management Unresolved questions References Abstract The syndrome of Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) is clinically heterogeneous but it is often characterized by a combination of sensory-motor neuropath...