Multiple Sulfatase Deficiency: A Clinical Report with Neonatal Presentation
Srushti Gandhi1*, Snehal Mallakmir2 and Rashid Merchant1
1Department of Paediatrics, Nanavati Superspecialty Hospital, Mumbai, Maharashtra, India
2Department of Genetics, Nanavati Superspecialty Hospital, Mumbai, Maharashtra, India
*Corresponding Author: Srushti Gandhi, Department of Paediatrics, Nanavati Superspecialty Hospital, Mumbai, Maharashtra, India.
March 04, 2022; Published: April 28, 2022
Multiple Sulfatase Deficiency is a rare autosomal recessive inborn error of metabolism caused by mutations in the sulfatase modifying factor 1 gene which encodes the formylglycine-generating enzyme, and resulting in accumulation of sulfatides, sphingolipids, sulphated glycosaminoglycans and steroid sulphates in various tissues. More than fifty different mutations and less than hundred cases have been published so far. We report a new case of MSD presenting in the neonatal period with respiratory distress, feeding difficulty, hypotonia, ichthyosis and dysmorphology. This patient was detected with a known homozygous pathogenic variation in SUMF1 gene c.1043C>T (p.A348V).
Keywords: Multiple Sulfatase Deficiency; MSD; SUMF1 Gene; Formylglycine-Generating Enzyme; Ichthyosis
- Incecik F., et al. “Multiple Sulfatase Deficiency: A Case Series of four children”. Annals of Indian Academy of Neurology 4 (2013): 720.
- Santos R. “Difficulty in recognizing multiple sulfatase deficiency in an infant”. Pediatrics 117 (2006): 955-958.
- Zilberman U and Bibi H. “Effect of multiple sulfatase deficiency (MSD) on dental development: can we use the teeth as an early diagnostic tool?” Journal of Inherited Metabolic Disease Reports 23 (2015): 95-101.
- Ahrens-Nicklas R., et al. “Complex care of patients with multiple sulfatase deficiency: clinical cases and guideline consensus statement”. Molecular Genetics and Metabolism2 (2018): S17.
- Prasad C., et al. “Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey”. Canadian Journal of Neurological Sciences5 (2014): 626-631.
- Schlotawa L., et al. “Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency”. European Journal of Human Genetics 9 (2013): 1020-1023.
- Garavelli L., et al. “Multiple sulfatase deficiency with neonatal manifestation”. Italian Journal of Pediatrics 40 (2014): 1.
- Staretz-Chacham O., et al. “A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency”. Molecular Genetics and Genomic Medicine 8 (2020):
- Schlotawa L., et al. “SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency”. European Journal of Human Genetics 19 (2011): 253-261.
- Hopwood J and Ballabio A. “Multiple sulfatases deficiency and the nature of the sulfatase family”. In The metabolic and molecular bases of inherited disease. Edited by Mac Graw Hill. New York: Scriver CR (2001): 3725-3732.
- Meshram RM., et al. “Conradi-Hunermann syndrome: A rare case of chondrodysplasia punctata”. Indian Journal of Paediatric Dermatology 20 (2019): 255-257.
- Sheth J., et al. “Prenatal Diagnosis of Lysosomal Storage Disorders by Enzymes Study Using Chorionic Villus and Amniotic Fluid”. Journal of Fetal Medicine 1 (2014): 17-24.
- Vimercati A., et al. “2D and 3D Ultrasonographic Evaluation of Fetal Midface Hypoplasia in Two Cases with 3-M Syndrome”. Geburtshilfe and Frauenheilkunde7 (2016): 814-818.