Hyperactivity, unexplained speech delay, and coarse facies--is it Sanfilippo syndrome?

Area of Science:

• Biochemistry
• Genetics
• Neurology

Background:

• Mucopolysaccharidosis-IIIB (Sanfilippo-B syndrome) results from lysosomal α-N-acetylglucosaminidase deficiency.
• This deficiency causes heparan sulfate accumulation and central nervous system degeneration.

Observation:

• Sanfilippo-B syndrome is often underdiagnosed in children and adults presenting with developmental delay and hyperactivity.
• It is frequently missed due to minimal somatic symptoms and potential false-negative urinary screening tests.

Findings:

• The study presents a case of a girl with the classic phenotype of Mucopolysaccharidosis-IIIB.
• This highlights the importance of considering the disorder in pediatric patients with unexplained symptoms.

Implications:

• Pediatricians should be aware of Mucopolysaccharidosis-IIIB as a potential cause of unexplained speech delay and hyperactivity.
• Timely diagnosis can prevent unnecessary investigations and facilitate appropriate management.