PURPOSE To describe the clinical and radiologic manifestations of juvenile Huntington disease and to determine whether adult imaging criteria for Huntington disease are helpful for pediatric patients. METHODS Six patients (3 to 18 years of age; mean age, 9.8 +/- 5.6 years; 3 female, 3 male) with juvenile Huntington disease were studied with CT (n = 6) and/or MR (n = 3). CT and MR studies were...

Like so many complex and incurable neurological disorders, the disease first described in this journal in 1951 by (Archibald) Denis Leigh (1915–1998; figure 1) as ‘Subacute Necrotising Encephalomyelopathy’ (SNE) remained for many years a rare and intriguing enigma, of interest mainly to paediatric neurologists and neuropathologists. The more recent history of this disorder, now designated Leigh...

Leigh syndrome is a progressive neurodegenerative disorder of childhood. The symmetrical necrotic lesions in the basal ganglia and/or brainstem which appear as hyperintense lesions on T2-weighted MRI is characteristic and one of the essential diagnostic criteria. Recognising this MR imaging pattern in a child with neurological problems should prompt the clinician to investigate for Leigh syndro...

Mitochondrial diseases are the most common inherited inborn error of metabolism resulting in deficient ATP generation, due to failure homeostasis and proper bioenergetics. The frequent mitochondrial disease manifestation children is Leigh syndrome (LS), encompassing clinical, neuroradiological, biochemical, molecular features. It typically affects infants but occurs anytime life. Considering re...