A 7-month-old infant was admitted to the hospital because of afebrile convulsion. The patient was born with a normal pregnancy at full term. The delivery was uncomplicated. He developed normally until 3 months of age. However, he manifested stridor and poor feeding at 4 months old and exhibited retroflexion of the neck and strabismus. Feeding problems and difficulty in handling secretion appeared at 6 months old. He manifested tonic-clonic convulsion without fever. Since convulsion continued for more than 30 min, he was transferred to the emergency room.
KeywordsGaucher disease Genotype/phenotype correlation Enzyme replacement therapy Pharmacological chaperone therapy Substrate reduction therapy
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