Sanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia
- PMID: 20040070
- DOI: 10.1111/j.1600-0447.2009.01521.x
Sanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia
Abstract
Objective: Sanfilippo B is a rare autosomal recessive mucopolysaccharidosis (MPS IIIB) caused by a deficiency of N-acetyl-alpha-D-glucosaminidase (NAGLU).
Method: A mild mentally retarded elderly female patient is described with a slowly progressive dementia who had given birth to a daughter who developed normally.
Results: Metabolic screening revealed an enhanced concentration of heparan sulfate in urine. Enzymatic assay demonstrated deficiency of N-acetyl-alpha-D-glucosaminidase. Mutations in the NAGLU gene were found. One mentally retarded and hospitalized elder brother was also found to have MPS IIIB, whereas a second brother, who had died earlier, is suspected to have had the same metabolic disorder. Prior to the development of dementia, both the patient and her brother showed autistic like features, signs of ideomotor apraxia and weakness in verbal comprehension.
Conclusion: Screening for metabolic disorders, in particular MPSes, should always be considered in patients with a history of mental deficit and dementia or progressive functional decline.
Comment in
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Sanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia.(Invited comment.Acta Psychiatr Scand. 2010 Aug;122(2):166. doi: 10.1111/j.1600-0447.2009.01520.x. Epub 2009 Dec 22. Acta Psychiatr Scand. 2010. PMID: 20040071 No abstract available.
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