Sanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia.
OBJECTIVE
Sanfilippo B is a rare autosomal recessive mucopolysaccharidosis (MPS IIIB) caused by a deficiency of N-acetyl-alpha-D-glucosaminidase (NAGLU).


METHODS
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.


CONCLUSIONS
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.
Verhoeven
W M A
WM
Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, the Netherlands. wverhoeven@vvgi.nl
Csepán
R
R
Marcelis
C L M
CL
Lefeber
D J
DJ
Egger
J I M
JI
Tuinier
S
S
D000118:Acetylglucosaminidase / Q000172:deficiency; D000544:Alzheimer Disease / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology; D001284:Atrophy; D001921:Brain / Q000473:pathology; D002869:Chromosome Aberrations; D003937:Diagnosis, Differential; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006497:Heparan Sulfate / Q000652:urine; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics / Q000523:psychology; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009084:Mucopolysaccharidosis III / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology
D000118:Acetylglucosaminidase; D006497:Heparan Sulfate; C033079:alpha-N-acetyl-D-glucosaminidase