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Facial anomalies inD-2-hydroxyglutaric aciduria

✍ Scribed by Amiel, Jeanne; de Lonlay, Pascale; Francannet, Christine; Picard, Alain; Bruel, Henri; Rabier, Daniel; Le Merrer, Martine; Verhoeven, Nanda; Jakobs, Cornelis; Lyonnet, Stanislas; Munnich, Arnold

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
57 KB
Volume
86
Category
Article
ISSN
0148-7299

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✦ Synopsis

D-2-hydroxyglutaric aciduria is a rare autosomal recessive organic aciduria with variable clinical expression. The biochemical defect is still unknown, and genetic heterogeneity has been suggested. Here, we report on facial anomalies in two unrelated cases of D-2-hydroxyglutaric aciduria presenting with epileptic encephalopathy. In a review, we found that minor facial anomalies have been mentioned in three patients. A flat face with a broad nasal bridge and external ear anomalies were present in our patients and in reported cases. We suggest giving consideration to D-2-hydroxyglutaric aciduria as a cause of minor facial anomalies in epileptic encephalopathy of unknown origin.

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