title: Hyperactivity, unexplained speech delay, and coarse facies--is it Sanfilippo syndrome?
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.
authors.affiliation: Pediatric Neurology and Neurodevelopment, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: Arushi Gahlot
authors.initials: AG
authors.lastname: Saini
authors.affiliation: Pediatric Neurology and Neurodevelopment, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India doctorpratibhasinghi@gmail.com.
authors.forename: Pratibha
authors.initials: P
authors.lastname: Singhi
authors.affiliation: Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: Jitendra Kumar
authors.initials: JK
authors.lastname: Sahu
authors.affiliation: Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: Saptharishi L
authors.initials: SL
authors.lastname: Ganesan
authors.affiliation: Department of Radiodiagnosis, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: Sameer
authors.initials: S
authors.lastname: Vyas
authors.affiliation: Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: Sandeep
authors.initials: S
authors.lastname: Rao
authors.affiliation: Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: Man Updesh Singh
authors.initials: MU
authors.lastname: Sachdeva
mesh_terms: D002648:Child; D018450:Disease Progression; D019066:Facies; D005260:Female; D006801:Humans; D006948:Hyperkinesis / Q000209:etiology*; D007805:Language Development Disorders / Q000209:etiology*; D009084:Mucopolysaccharidosis III / Q000175:diagnosis* / Q000503:physiopathology*
keywords: Sanfilippo; developmental delay; hyperactivity; mucopolysaccharidosis; speech delay