Journal of Shandong University (Health Sciences) ›› 2021, Vol. 59 ›› Issue (4): 113-116.doi: 10.6040/j.issn.1671-7554.0.2020.1529

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A case of congenital disorder of glycosylation caused by SLC35A2 gene mutation

SUN Yu, CHEN Na, MA Aihua   

  1. Department of Pediatric Neurology, Shandong Provincial Hospital Affiliated to Shandong First Medical University;
    Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250021, Shandong, China
  • Published:2021-04-30

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Abstract: Objective To explore the clinical manifestations and genetic basis of a patient with recurrent epileptic seizures and global developmental delay. Methods The clinical data and genetic test results of the patient were analyzed retrospectively and related literature was reviewed. Results The patient, a boy, whose main clinical features were recurrent epileptic seizures and developmental delay that started from about 1 month after birth. Physical examination showed hypopigmentation on the lower abdomen, right leg and back. Video electroencephalogram(EEG)suggested abnormal infant electroencephalogram, periodic burst inhibition with hypsarrhythmia; cerebral magnetic resonance imaging(MRI)indicated abnormal signal in the bilateral periventricular white matter. Next generation sequencing detected that the patient carried a heterozygous de novo mutation of c.262G>C(P.A88P)in SLC35A2 gene(NM_001042498), which was a spontaneous mutation. After use of antiepileptic drugs such as topiramate, clonazepam, levetiracetam and lamotrigine and treatment with adrenocorticotropic hormone(ACTH)in combination, the seizure frequency was decreased. Conclusion SLC35A2-CDG is a metabolic disease caused by X-linked dominant inheritance of glycoprotein synthesis defects. Currently there is no effective treatment and the suspected cases can get a definite diagnosis by gene detection.

Key words: Congenital disorder of glycosylation, SLC35A2 gene, Gene mutation, Epilepsy, Developmental delay

CLC Number: 

  • R729
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