A Novel PSAP Gene Mutation in A Lebanese Patient with A Limited Phenotypic Expression
Mohamad Wehbe1, Sacha Saad2, Mohamad Fattah3 and Hicham Mansour4*
1 Faculty of Medicine, American University of Beirut, Beirut, Lebanon.
2 Biology Department, American University of Beirut, Beirut, Lebanon.
3 Department of Pediatrics, Military Hospital, Beirut, Lebanon.
4 Department of Pediatrics, Saint George University Medical Center, Beirut, Lebanon.
*Corresponding Author: Hicham Mansour, Department of Pediatrics, Saint George University Medical Center, Beirut, Lebanon.
DOI: https://doi.org/10.58624/SVOAPD.2023.02.036
Received: May 29, 2023 Published: June 13, 2023
Abstract
Metachromatic leukodystrophy is an autosomal recessive neurodegenerative disorder that affects the central and peripheral nervous system and falls under the family of lysosomal storage diseases (LSDs). It is divided into three clinical forms (late infantile, juvenile, and adult) depending on how early the disease manifests and with varying prognosis for each form. Common presentations of the disease include cognitive, behavioral, and motor symptoms. Here, we present a Lebanese patient with a novel variant in the prosaposin gene, confirming the diagnosis of metachromatic leukodystrophy due to saposin B mutation, with a phenotypic expression of the disease limited to an attention deficit disorder, and a clear leukodystrophy.
Keywords: PSAP gene mutation; Metachromatic leukodystrophy (MLD); Saposin B mutation.
Citation: Wehbe M, Saad S, Fattah M, Mansour H. A Novel PSAP Gene Mutation in A Lebanese Patient with A Limited Phenotypic Expression. SVOA Paediatrics 2023, 2:3, 73-77.