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01.08.2009 | Original Paper

Neonatal manifestation of multiple sulfatase deficiency

verfasst von: Andreas Busche, Julia B. Hennermann, Friederike Bürger, Hans Proquitté, Thomas Dierks, Annabel von Arnim-Baas, Denise Horn

Erschienen in: European Journal of Pediatrics | Ausgabe 8/2009

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Abstract

Introduction

Multiple sulfatase deficiency is biochemically characterized by the accumulation of sulfated lipids and acid mucopolysaccharides.

Case report

We report clinical, biochemical, and molecular findings in a female newborn affected with a severe form of multiple sulfatase deficiency (Mendelian Inheritance in Man (MIM) # 272200). She presented with primary microcephaly, facial anomalies including depressed nasal bridge, nasal hypoplasia, anteverted nostrils, smooth philtrum, limited mobility of hip and knee joints, mild ichthyosis, as well as muscular hypotonia. The diagnosis is based on detection of excessive mucopolysacchariduria and enzymatic assays performed in leucocytes which showed complete deficiency of all of the measured sulfatases. Sequencing of the coding region of the underlying gene, SUMF1, could not identify any mutation. However, failure to detect the corresponding mRNA by reverse transcription polymerase chain reaction proves defective SUMF1 expression.

Conclusion

The diagnosis of neonatal MSD should be considered when dealing with the association of distinct facial anomalies, limited joint mobility, ichthyosis, and muscular hypotonia.

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Titel: Neonatal manifestation of multiple sulfatase deficiency
verfasst von: Andreas Busche
Julia B. Hennermann
Friederike Bürger
Hans Proquitté
Thomas Dierks
Annabel von Arnim-Baas
Denise Horn
Publikationsdatum: 01.08.2009
Verlag: Springer-Verlag
Erschienen in: European Journal of Pediatrics / Ausgabe 8/2009
Print ISSN: 0340-6199
Elektronische ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-008-0871-2

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Neonatal manifestation of multiple sulfatase deficiency