Long-term clinical course of a patient with mucopolysaccharidosis type IIIB / 소아과
Korean Journal of Pediatrics
;
: S37-S40, 2016.
Article
in English
| WPRIM
| ID: wpr-228467
ABSTRACT
Mucopolysaccharidosis type III (MPS III) is a rare genetic disorder caused by lysosomal storage of heparan sulfate. MPS IIIB results from a deficiency in the enzyme alpha-N-acetyl-D-glucosaminidase (NAGLU). Affected patients begin showing behavioral changes, progressive profound mental retardation, and severe disability from the age of 2 to 6 years. We report a patient with MPS IIIB with a long-term follow-up duration. He showed normal development until 3 years. Subsequently, he presented behavioral changes, sleep disturbance, and progressive motor dysfunction. He had been hospitalized owing to recurrent pneumonia and epilepsy with severe cognitive dysfunction. The patient had compound heterozygous c.1444C>T (p.R482W) and c.1675G>T (p.D559Y) variants of NAGLU. Considering that individuals with MPS IIIB have less prominent facial features and skeletal changes, evaluation of long-term clinical course is important for diagnosis. Although no effective therapies for MPS IIIB have been developed yet, early and accurate diagnosis can provide important information for family planning in families at risk of the disorder.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pneumonia
/
Follow-Up Studies
/
Lysosomal Storage Diseases
/
Mucopolysaccharidoses
/
Mucopolysaccharidosis III
/
Diagnosis
/
Epilepsy
/
Family Planning Services
/
Heparitin Sulfate
/
Intellectual Disability
Type of study:
Diagnostic study
/
Observational study
/
Prognostic study
/
Risk factors
Limits:
Humans
Language:
English
Journal:
Korean Journal of Pediatrics
Year:
2016
Type:
Article
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