Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada.

Introduction: Nearly all children in Canada with an inherited metabolic disease (IMD) are treated at one of the country's Hereditary Metabolic Disease Treatment Centres. We sought to understand the system of care for paediatric IMD patients in Canada in order to identify sources of variation and inform future research priorities.

Methods: Treatment centres were contacted by email and invited to complete a web-based survey.

Familial recurrence of cerebral palsy with multiple risk factors.

The recurrence of cerebral palsy in the same family is uncommon. We, however, report on two families with two or more affected siblings. In both families, numerous potential risk factors were identified including environmental, obstetric, and possible maternal effects.

A Case of Dilated Cardiomyopathy Associated with 3-Hydroxy-3-Methylglutaryl-Coenzyme A (HMG CoA) Lyase Deficiency.

3-hydroxy-3-methylglutaryl-coenzyme A (HMG CoA) lyase deficiency is an inborn error of metabolism characterized by impairment of ketogenesis and leucine catabolism resulting in an organic acidopathy. In 1994, a case of dilated cardiomyopathy and fatal arrhythmia was reported in a 7-month-old infant. We report a case of dilated cardiomyopathy in association with HMG CoA lyase deficiency in a 23-year-old man with the acute presentation of heart failure.

Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family.

Mitochondrial cytopathies are characterized by a large variability of clinical phenotypes and severity. The 14487T>C mutation in mtDNA has been recently described to be associated with Leigh syndrome. The 12297T>C mutation has been described in isolated dilated cardiomyopathy patients.

Heparin cofactor II-thrombin complex: a biomarker of MPS disease.

The mucopolysaccharidoses are a group of lysosomal storage disorders caused by defects in the degradation of glycosaminoglycans. Each disorder is characterized by progressive multi-system disease with considerable clinical heterogeneity. The clinical heterogeneity of these disorders is thought to be related to the degree of the metabolic block in glycosaminoglycan degradation which in turn is related to the underlying mutation at the respective locus.

Subcutaneous fat necrosis of the newborn and lactic acidosis.

Subcutaneous fat necrosis of the newborn (SFN) is an uncommon, self-limited condition of neonates and infants. However, hypercalcemia may be a potentially life-threatening complication of the otherwise self-healing process. Rare complications such as thrombocytopenia, hypertriglyceridemia, hypoglycemia, calcium deposits in the liver, inferior vena cava, atrial septum of the heart, and nephrocalcinosis have been reported.

Vanishing white matter disease with periodic (paroxysmal) hemiparesis.

Vanishing white matter disease is a chronically progressive leukodystrophy with periods of acute deterioration after head trauma and febrile illness. This report describes a child with genetically and clinically confirmed vanishing white matter disease exhibiting frequent episodes of right-sided hemiplegia, aphasia, and headache resolving fully within hours to days. This report describes a case of this condition presenting with episodes of hemiparesis with full discovery to baseline.

Influenza B acute necrotizing encephalopathy: a case report and literature review.

The case of a 9-year-old girl with acute encephalopathy with evidence of influenza B virus infection and bilateral basal ganglia lesions is reported. The literature on acute necrotizing encephalopathy is reviewed, and other causes of bilateral basal ganglia lesions are discussed.