Serial magnetic resonance imaging and neurophysiological studies in multiple sulphatase deficiency.
We present serial clinical, magnetic resonance imaging (MRI) and neurophysiological findings of a patient with multiple sulphatase deficiency (MSD), who was first admitted at the age of 9 months, because of psychomotor retardation. MRI demonstrated extensive diffuse symmetrical high signal in the deep white matter of both cerebral hemispheres, as well as of the subcortical white matter and the brainstem, while there was additional enlargement of sulci and subdural spaces and mild atrophy. Assay of arylsulphatase A activity in white blood cell homogenates at the age of 29 months disclosed a marked deficiency of the enzyme, compatible with the diagnosis of early-infantile metachromatic leukodystrophy. During the course of a later admission, the presence of ichthyosis pointed out to the possible diagnosis of MSD; further assays of sulphatases in plasma, leukocytes as well as in cultured fibroblasts, combined with an abnormal excretion of mucopolysaccharides and sulphatides in urine confirmed the diagnosis. Molecular analysis identified a homozygous disease-causing mutation (R349W) of the SUMF1 gene. Serial neurophysiological and MRI studies demonstrated the progressive nature of the disorder (regarding both central and peripheral nervous system), correlating with the clinical deterioration (spastic quadriplegia, optic atrophy and epilepsy) with subsequent death at the age of 4 years.
Zafeiriou
Dimitrios I
DI
1st Department of Pediatrics, Aristotle University of Thessaloniki, Greece. jeff@med.auth.gr
Vargiami
Euthymia
E
Papadopoulou
Kyriaki
K
Dimitriou
Evangelia
E
Mavridou
Irene
I
Santamaria
Raul
R
Canals
Isaak
I
Michelakakis
Helen
H
D001921:Brain / Q000473:pathology*; D003951:Diagnostic Errors; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007966:Leukodystrophy, Metachromatic / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D052517:Multiple Sulfatase Deficiency Disease / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D009154:Mutation; D050862:Oxidoreductases Acting on Sulfur Group Donors; D013429:Sulfatases / Q000032:analysis* / Q000235:genetics
D050862:Oxidoreductases Acting on Sulfur Group Donors; C480483:SUMF1 protein, human; D013429:Sulfatases