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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.

journal_name

Acta Psychiatr Scand

journal_title

Acta psychiatrica Scandinavica

authors

Verhoeven WM,Csepán R,Marcelis CL,Lefeber DJ,Egger JI,Tuinier S

doi

10.1111/j.1600-0447.2009.01521.x

subject

Has Abstract

pub_date

2010-08-01 00:00:00

pages

162-5

issue

2

eissn

0001-690X

issn

1600-0447

pii

ACP1521

journal_volume

122

pub_type

杂志文章

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