Paediatrics: Metabolic syndromes: storage dysmorphism

Metabolic syndromes: storage dysmorphism

IMDs associated with significant dysmorphic features

Lysosomal disorders

•   Mucopolysaccharidoses

•   Glycoproteinoses

•   Sphingolipidoses

Peroxisomal disorders

•   Zellweger syndrome

•   Rhizomelic chondrodysplasia punctata

Mitochondrial disorders

Glutaric aciduria type II

Other

•   Menkes disease

•   Homocystinuria

•   Familial hypercholesterolaemia

Lysosomal disorder

The characteristic features of this storage dysmorphic syndrome are:

• coarse facies;

• bone changes (dysostosis multiplex);

• short stature;

• organomegaly (hepatosplenomegaly).

Peroxisomal disorder

The characteristic features of the Zellweger phenotype are:

• psychomotor retardation;

• hypotonia and weakness;

• seizures;

• hepatocellular dysfunction;

• impaired special senses.

Investigations

The initial investigation should include the following.

• Urine: mucopolysaccharide and oligosaccharide screen; organic acids.

Plasma: lactate; pyruvate; very long-chain fatty acids; phytanic acid; amino acids; isoelectric focusing of transferrin.