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Case Reports
. 2019 Jun 25;3(2):122-126.
doi: 10.1002/ped4.12135. eCollection 2019 Jun.

Status epilepticus due to fructose-1,6-bisphosphatase deficiency caused by FBP1 gene mutation

Shiyue Mei  1 , Chao Ma  2 , Yibing Cheng  2 , Suyun Qian  3 , Zhipeng Jin  2
Affiliations
Case Reports

Status epilepticus due to fructose-1,6-bisphosphatase deficiency caused by FBP1 gene mutation

Shiyue Mei et al. Pediatr Investig. .

Abstract

Introduction: Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare inherited disorder in gluconeogenesis, characterized by hypoglycemia, ketonuria, metabolic acidosis and convulsions.

Case presentation: We describe two brothers with FBPase deficiency. The proband developed s evere hypoglycemia and progressed to status epilepticus, and the brother showed slightly hypoglycemia with a good prognosis. Whole exome sequencing (WES) identified compound heterozygous variants [c.333+1_333+2delinsTC and c.490G>A (p.Gly164Ser)] in fructose-1,6-bisphosphatase 1 gene in the two brothers, which were inherited from the father and the mother, respectively.

Conclusion: Genetic analysis provided a solid basis for a definite diagnosis and the determination of precision therapies for the patient.

Keywords: 6‐bisphosphatase deficiency; FBP1; Fructose‐1; Hypoglycemia; Mutation; Status epilepticus.

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Conflict of interest statement

The authors have no conflict of interest relevant to this article.

Figures

Figure 1
Figure 1
Mutation co‐segregation in the pedigree. The proband and his younger brother suffered from fructose‐1,6‐bisphosphatase (FBPase) deficiency. The proband (II2) developed severe hypoglycemia, metabolic acidosis, and intermittent convulsions. The brother (II3) showed slight hypoglycemia, and suffered seizure once with a good prognosis. The mother's first pregnancy (II1) ended in an unexplained miscarriage at 14 weeks of gestation. No one else in the family had a history of seizures or hypoglycemia.
Figure 2
Figure 2
T1 (A) and T2 (B)‐weighted MRI images showed linear high signal intensity selectively along the cortical regions of bilateral hemisphere and basal ganglia. Increased fluid‐attenuated inversion recovery (FLAIR) signal in the cortical regions (C).
Figure 3
Figure 3
Sanger sequencing analyses of FBP1 in the patient, the brother and their parents. The arrows indicate the mutated nucleotides. The patient carried a compound heterozygous splicing mutation, c.333+1_333+2delinsTC, and a missense mutation, c.490G>A (p.Gly164Ser), in FBP1. c.333+1_333+2delinsTC was inherited from a heterozygous father, and c.490G>A (p.Gly164Ser) was inherited from a heterozygous mother. The brother carried the same compound heterozygous variants with the patient.
See this image and copyright information in PMC

References

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