Mild ichthyosis in a 4-year-old boy with multiple sulphatase deficiency

Abstract

We report a 4-year-old boy with multiple sulphatase deficiency (MSD). His early health was good. By the end of his first year there were concerns about developmental delay but by 26 months he showed clear evidence of regression in that he was barely able to sit unsupported and had lost all fine motor and communication skills. At that time he also had widespread mild ichthyosis that cleared completely with the use of emollients. The neurological deterioration suggested a diagnosis of metachromatic leucodystrophy, and a reduction in the leucocyte arylsulphatase A activity was detected. The ichthyosis suggested steroid sulphatase deficiency, and a reduction in the leucocyte steroid sulphatase activity was detected. The enzyme deficiency was much less marked for steroid sulphatase than for arylsulphatase A in this boy. This diversity in enzyme activities is typical of MSD and correlates with the mild ichthyosis in this child. This case shows that even mild ichthyosis should prompt measurement of steroid sulphatase activity in a child of either sex with unexplained neurological deterioration.

SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency

“…[5][6][7][8] Most symptoms were present at birth and the patient showed a rapidly progressive course of disease. The group of late infantile patients 9,11,12 included in this study could be clearly distinguished from the neonatal patient, as symptoms varied in their age of onset with some features presenting only in later life or others lacking completely. Two of the late infantile patients could be subgrouped as LIM versions of MSD (Table 1), and differentiated from the very rare juvenile form, 15 which is not included in our patient collection.…”

“…[5][6][7][8] Late infantile MSD resembles late infantile metachromatic leukodystrophy with progressive loss of mental and motor abilities; these clinical features are combined with other symptoms of single sulfatase deficiencies like dysmorphism, skeletal changes and ichthyosis. 2,3,[9][10][11][12] Late infantile MSD can be subdivided into a severe (LIS) and an attenuated (late infantile mild, LIM) form, the latter showing a reduced number of symptoms and later onset beyond the second year of life. 13 Late infantile forms include the majority of MSD cases; a Saudi variant form was described separately.…”

Molecular analysis ofSUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency

“…Patient 3 is included in Cosma et al [2003]. Part of the clinical data of patient 4 and 5 are already included in Mancini et al [2001] and Loffeld et al [2002], respectively. The clinical data of patients 1, 2 and 6 were kindly provided by A. Kohlschütter, Hamburg (Germany), by K. Harzer, Tübingen (Germany), and by M.T.…”