TY  - JOUR
AB  - Multiple sulfatase deficiency (MSD) is an ultra-rare lysosomal storage disorder (LSD). Mutations in the SUMF1 gene encoding the formylglycine generating enzyme (FGE) result in an unstable FGE protein with reduced enzymatic activity, thereby affecting the posttranslational activation of newly synthesized sulfatases. Complete absence of FGE function results in the most severe clinical form of MSD with neonatal onset and rapid deterioration. We report on a preterm infant presenting with hydrops fetalis, lung hypoplasia, and dysmorphism as major clinical signs. The patient died after 6 days from an intraventricular hemorrhage followed by multi-organ failure. MSD was caused by a homozygous SUMF1 stop mutation (c.191C>A, p.Ser64Ter). FGE protein and sulfatase activities were absent in patient fibroblasts. Hydrops fetalis is a rare symptom of LSDs and should be considered in the differential diagnosis in combination with dysmorphism. The diagnostic set up should include measurements of glycosaminoglycan excretion and lysosomal enzyme activities, among them at least two sulfatases, and molecular confirmation.
DA  - 2019
DO  - 10.1002/jmd2.12074
LA  - eng
IS  - 1
M2  - 48
PY  - 2019
SN  - 2192-8304
SP  - 48-52
T2  - JIMD reports
TI  - Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient
UR  - https://nbn-resolving.org/urn:nbn:de:0070-pub-29375860
Y2  - 2024-11-22T04:13:35
ER  -