TY - JOUR
T1 - Mild ichthyosis in a 4 year old boy with multiple sulphatase deficiency
AU - Loffeld, A
AU - Green, Stuart
AU - Roper, HP
AU - Moss, Celia
AU - Gray, R
PY - 2002/8/1
Y1 - 2002/8/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0036378084&partnerID=8YFLogxK
U2 - 10.1046/j.1365-2133.2002.04776.x
DO - 10.1046/j.1365-2133.2002.04776.x
M3 - Article
C2 - 12174111
SN - 0007-0963
VL - 147
SP - 353
EP - 355
JO - British Journal of Dermatology
JF - British Journal of Dermatology
IS - 2
ER -