Abstract
Perinatal lethal Gaucher disease (PLGD), a particular and serious form of type 2 Gaucher disease (GD), often causes lethality in utero or death within hours after birth. The typical clinical manifestations include non-immune hydrops fetalis (NIHF), premature birth, fetal growth restriction, fetal intrauterine death, or neonatal distress and rapid death after birth. Here, we present a premature neonate with GD whose main clinical manifestations included intrauterine growth retardation, anasarca, facial dysmorphia, ichthyosis, respiratory distress, hepatosplenomegaly, joint contractures, myoclonus, refractory thrombocytopenia, anemia, elevated levels of liver enzymes, bile acid and direct bilirubin, cholestasis, pulmonary hypoplasia, intracranial hemorrhage, and abnormal electroencephalogram. The activity of β- glucocerebrosidase was 0 in the peripheral white blood cells of the neonate. The sequencing analysis identified the presence of missense G234E and H413P heterozygous mutations in glucerebrosidase (GBA) exon 7 and 10, with the latter first observed to be associated with PLGD. This infant died at 73 days of age.
Highlights
Gaucher disease (GD) is the most common autosomal recessive inherited sphingolipidosis
The neonate was admitted to the neonatal intensive care unit (NICU) for ventilation support due to tachypnea
The perinatal lethal Gaucher disease (PLGD) has a unique phenotype in addition to the classical type 2 GD symptoms [3]
Summary
Gaucher disease (GD) is the most common autosomal recessive inherited sphingolipidosis. Types of GBA mutations that cause the perinatal lethal Gaucher disease (PLGD) involve recombinant alleles, non-sense mutations, and missense mutations [2,3,4,5,6,7,8,9], of which homozygosity recombinant and fundamentally null GBA alleles cause the death of the fetus in utero or shortly after birth [2, 8]. We present a case of neonatal PLGD correlated to compound heterozygous G234E and H413P missense mutations in the GBA gene. A male neonate weighing 2,020 g was given birth to by a 33-year-old Chinese mother (gravida 2, para 2) via cesarean section. The mother was diagnosed with gestational diabetes at week 25 of gestation and her blood sugar levels fluctuated within a normal range through diet control.
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