Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG.

ABSTRACT:

Background

Congenital disorders of glycosylation (CDG) is a heterogeneous group of congenital metabolic diseases with multisystem clinical involvement. ALG3-CDG is a very rare subtype with only 24 cases reported so far.

Case

Here, we report two siblings with dysmorphic features, growth retardation, microcephaly, intractable epilepsy, and hemangioma in the frontal, occipital and lumbosacral regions.

Results

We studied two siblings by whole exome sequencing. A pathogenic variant in ALG3 (NM_005787.6: c.165C > T; p.Gly55=) that had been previously associated with congenital glycolysis defect type 1d was identified. Their intractable seizures were controlled by ketogenic diet.

Conclusion

Although prominent findings of growth retardation and microcephaly seen in our

SUBMITTER: Paketci C 

PROVIDER: S-EPMC7906126 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature