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 patients
have been extensively reported before, presence of hemangioma is a novel finding that
may be used as an indication for ALG3-CDG diagnosis. Our patients are the first reported cases whose intractable seizures
were controlled with ketogenic diet. This report adds ketogenic diet as an option
for treatment of intractable epilepsy in ALG3-CDG.
Keywords
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Article info
Publication history
Published online: May 07, 2020
Accepted:
April 19,
2020
Received in revised form:
March 23,
2020
Received:
November 27,
2019
Identification
Copyright
© 2020 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
