Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.

The neurological phenotype of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) and short-chain enoyl-CoA hydratase (SCEH) defects is expanding and natural history studies are necessary to improve clinical management. From 42 patients with Leigh syndrome studied by massive parallel sequencing, we identified five patients with SCEH and HIBCH deficiency. Fourteen additional patients were recruited through collaborations with other centres.

Stress Fracture of the Fifth Metatarsal in Foot Deformity Secondary to Neuromuscular Disease: Experiences of Deformity Correction Treatment-A Report of 3 Cases and Review of the Literature.

Unlabelled: Fractures at the proximal metaphyso-diaphyseal junction of the fifth metatarsal are associated with high rates of delayed union. When these fractures are the result of repeated stress in patients with equinovarus hindfoot, which in turn is caused by neurological disorders, delayed union is the rule. Therefore, in neurological patients with stress fractures, optimal treatment would be to achieve a plantigrade foot enabling them to relieve the fifth metatarsal overload, which prevents the consolidation.

Polyunsaturated fatty acid deficiency during dietary treatment of very long-chain acyl-CoA dehydrogenase deficiency. Rescue with soybean oil.

Nutritional management of very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is based on the avoidance of fasting and substitution of medium-chain triglycerides for long- and very long-chain triglycerides. We report two cases of this disease, which developed omega-6 essential fatty acid deficiency after three and five months from the beginning of nutritional therapy (SHS product: Monogen). This alteration could be especially dangerous in these patients owing to their possible susceptibility to the development of pigmentary retinopathy.