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J Child Neurol. 2014 Aug;29(8):NP9-12. doi: 10.1177/0883073813491627. Epub 2013 Jun 12.

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

Author information

1
Pediatric Neurology and Neurodevelopment, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
2
Pediatric Neurology and Neurodevelopment, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India doctorpratibhasinghi@gmail.com.
3
Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
4
Department of Radiodiagnosis, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
5
Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Abstract

Mucopolysaccharidosis-IIIB or Sanfilippo-B syndrome is caused by deficiency of lysosomal α-N-acetylglucosaminidase that leads to accumulation of heparan-sulphate and degeneration of central nervous system with progressive dementia, hyperactivity, and aggressive behavior. Mucopolysaccharidosis-III remains underdiagnosed as a cause of developmental delay and hyperactivity both in adults and children because in contrast to other mucopolysaccharidoses, they have little somatic disease, coarse facial features, hepatosplenomegaly or skeletal changes, and a high incidence of false-negative results on the urinary screening tests. We describe here a girl with the classic phenotype of mucopolysaccharidosis-IIIB to alert pediatricians to the possibility of this disorder in children with unexplained speech delay and hyperactivity and prevent unnecessary investigations.

KEYWORDS:

Sanfilippo; developmental delay; hyperactivity; mucopolysaccharidosis; speech delay

PMID:
23761035
DOI:
10.1177/0883073813491627
[Indexed for MEDLINE]
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