Neonatal manifestation of multiple sulfatase deficiency.

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.

• Authors: Andreas Busche, Julia B Hennermann, Friederike Bürger, Hans Proquitté, Thomas Dierks, Annabel von Arnim-Baas, Denise Horn
• Journal: European journal of pediatrics (Eur J Pediatr) Vol. 168 Issue 8 Pg. 969-73 (Aug 2009) ISSN: 1432-1076 [Electronic] Germany
• PMID: 19066960 (Publication Type: Case Reports, Journal Article, Review)

Chemical References

• Oxidoreductases Acting on Sulfur Group Donors
• SUMF1 protein, human
• Sulfatases

Topics

• Abnormalities, Multiple
• Face (abnormalities)
• Female
• Hip Dislocation, Congenital
• Humans
• Infant, Newborn
• Microcephaly
• Mucopolysaccharidoses (genetics)
• Oxidoreductases Acting on Sulfur Group Donors
• Sulfatases (deficiency, genetics)