E-Pearl of the Week: Coarse Facial Features

January 31, 2012

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January 31, 2012

Coarse Facial Features:An Important Diagnostic Clue for the Neurologist

Coarse facial features are commonly seen in children with lysosomal storage diseases (eg. mucopolysaccharidoses, mucolipidoses, certain sphingolipidoses, and disorders of glycoprotein degradation). While the facial dysmorphisms can be subtle in early infancy, with age they become increasingly prominent due to build up of incompletely degraded substrates. Examples of "coarse" facial features include thickened eyebrows and frontal bossing. Subtler signs that can be seen even in infancy include "filling in" around the bridge of the nose and the nasolabial folds.

Reference

1. Giles L, Kolodny EH, Pastores GM. Neurology of Hereditary Metabolic Diseases of Children 3rd Edition New York, McGraw Hill; 2006.

Submitted by: Amy Gelfand, MD

Disclosures: Dr. Gelfand serves on the editorial team for the Neurology® Resident and Fellow Section.

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