J Pediatr Genet 2019; 08(02): 081-085
DOI: 10.1055/s-0038-1675372
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Acute Gaucher Disease-Like Condition in an Indian Infant with a Novel Biallelic Mutation in the Prosaposin Gene

Akella Radha Rama Devi
1  Department of Biochemical Genetics, Sandor Lifesciences Pvt Ltd, Hyderabad, Telangana, India
,
Srilatha Kadali
1  Department of Biochemical Genetics, Sandor Lifesciences Pvt Ltd, Hyderabad, Telangana, India
,
Ananthaneni Radhika
2  Department of Molecular Genetics, Sandor Lifesciences Pvt Ltd, Hyderabad, Telangana, India
,
Vineeta Singh
3  Department of Bioinformatics, Sandor Lifesciences Pvt Ltd, Hyderabad, Telangana, India
,
M. Aravind Kumar
2  Department of Molecular Genetics, Sandor Lifesciences Pvt Ltd, Hyderabad, Telangana, India
,
Gummadi Maheshwar Reddy
1  Department of Biochemical Genetics, Sandor Lifesciences Pvt Ltd, Hyderabad, Telangana, India
,
Shaik Mohammad Naushad
1  Department of Biochemical Genetics, Sandor Lifesciences Pvt Ltd, Hyderabad, Telangana, India
› Author Affiliations
Further Information

Publication History

21 July 2018

17 September 2018

Publication Date:
26 October 2018 (eFirst)

Abstract

This is the first reported case of prosaposin (PSAP) mutation from India manifesting as an acute neuronal Gaucher disease-like condition. A 2-month-old male baby presented with encephalopathy, resistant tonic–clonic seizures, moderate hepatosplenomegaly, hypotonia, and cherry red spot in the retinae. The child had anemia, thrombocytopenia, elevated chitotriosidase, and normal activity of acid sphingomyelinase and low normal activity of β-glucosidase 1 (β-glucocerebrosidase 1, GBA). The child succumbed in the fourth month of life due to persistent respiratory distress and refractory seizures. The clinical phenotype, cherry red spots, elevated chitotriosidase, and lysosomal assays led to the suspicion of Gaucher disease. Exome sequencing revealed a homozygous stop codon mutation in the PSAP gene (c.G1228T, p.Glu410ter). Prenatal diagnosis in the next pregnancy revealed a carrier fetus, who was unaffected postnatally. The diagnosis of specific activator deficiency such as saposin C and saposin D deficiency (in the current study) should be considered and tested for when Gaucher disease is suspected in an infant with partially deficient or near normal GBA activity.