A Novel Mutation in the NAGLU (N-Acetyl-Alpha-Glucosaminidase) Gene Associated With Mucopolysaccharidosis Type III-B in a Saudi Girl

Mucopolysaccharidosis type III-B (MPS III), also known as Sanfilippo syndrome, is a rare autosomal recessive lysosomal storage disease that primarily affects the brain and spinal cord. In this report, we describe the case of an eight-year-old female child who presented to the emergency room with an...

Full description

Saved in:
Bibliographic Details
Published in:Curēus (Palo Alto, CA) CA), 2022-10, Vol.14 (10)
Main Authors: Albar, Rawia F, AlQurashi, Rahaf A, Naaman, Nada, Alghamdi, Atheer, Alghamdi, Sara K, Aljohani, Khulud, Alsharif, Rawaf
Format: Article
Language:English
Subjects:
Age
Asthma
Atrophy
Births
Case reports
Childbirth & labor
Children & youth
Convulsions & seizures
Disease
Dysphagia
Enzymes
Genetic disorders
Genetics
Heparan sulfate
Infections
Magnetic resonance imaging
Metabolic disorders
Mutation
Pediatrics
Pregnancy
Scoliosis
Sleep
Speech
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Mucopolysaccharidosis type III-B (MPS III), also known as Sanfilippo syndrome, is a rare autosomal recessive lysosomal storage disease that primarily affects the brain and spinal cord. In this report, we describe the case of an eight-year-old female child who presented to the emergency room with an asthma exacerbation. She had coarse facial features, thick eyebrows, deep-seated eyes, thinning coarse hair, and macrocephaly. Moreover, she suffered from hepatosplenomegaly, generalized muscular atrophy, global developmental delay, and scoliosis. Urinary glycosaminoglycans (GAGs) were within normal limits. Full genetic testing confirmed the diagnosis of Sanfilippo syndrome type B with a deficiency of alpha-N-acetylglucosaminidase caused by a homozygous mutation c.889C>T, p.(Arg297*) in the NAGLU (N-acetyl-alpha-glucosaminidase) gene. Chromosomal microarray analysis (CMA) showed a copy number variant (CNV) within the 1q24 region. Thus far, CNVs similar in size and position have not been reported in the literature, making this a novel mutation.
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.30519