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Ital J Pediatr. 2014 Dec 17;40:86. doi: 10.1186/s13052-014-0086-2.

Multiple sulfatase deficiency with neonatal manifestation.

Author information

1
Clinical Genetics Unit, Obstetric and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. garavelli.livia@asmn.re.it.
2
Pediatrics Unit, UNIVPM, Ancona, Italy. dott.luciasantoro@gmail.com.
3
Clinical Genetics Unit, Obstetric and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. alexandra.iori@gmail.com.
4
Department of Medical and Surgical Sciences of Childhood and Adult, University of Modena and Reggio Emilia, Modena, Italy. alexandra.iori@gmail.com.
5
Neonatal Intensive Care Unit, Obstetric and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. gargano.giancarlo@asmn.re.it.
6
Neonatal Intensive Care Unit, Obstetric and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. braibanti.silvia@asmn.re.it.
7
Neonatal Intensive Care Unit, Obstetric and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. pedori.simona@asmn.re.it.
8
Neonatal Intensive Care Unit, Obstetric and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. melli.nives@asmn.re.it.
9
Pediatric Neurology Unit, Obstetric and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. frattini.daniele@asmn.re.it.
10
Pediatrics Unit, UNIVPM, Ancona, Italy. lucia.zampini@ospedaliriuniti.marche.it.
11
Pediatrics Unit, UNIVPM, Ancona, Italy. tiziana.galeazzi@ospedaliriuniti.marche.it.
12
Pediatrics Unit, UNIVPM, Ancona, Italy. lucia.padella@libero.it.
13
Telethon Institute of Genetics and Medicine (TIGEM), Via Pietro Castellino 111, 80131, Naples, Italy. pepe@tigem.it.
14
Clinical Genetics Unit, Obstetric and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. wischmeijer.anita@asmn.re.it.
15
Department of Medical Genetics, Policlinico Sant'Orsola-Malpighi, University of Bologna, Bologna, Italy. wischmeijer.anita@asmn.re.it.
16
Clinical Genetics Unit, Obstetric and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. rosato.simoneta@asmn.re.it.
17
Clinical Genetics Unit, Obstetric and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. ivan.ivanovski@asmn.re.it.
18
Department of Medical and Surgical Sciences of Childhood and Adult, University of Modena and Reggio Emilia, Modena, Italy. iughetti.lorenzo@unimore.it.
19
Clinical Genetics Unit, Obstetric and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. gelmini.chiara@asmn.re.it.
20
Deparment of Pediatrics, University of Parma, Parma, Italy. sergio.bernasconi@unipr.it.
21
Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, University of Lausanne, Lausanne, Switzerland. asuperti@unil.ch.
22
Telethon Institute of Genetics and Medicine (TIGEM), Via Pietro Castellino 111, 80131, Naples, Italy. ballabio@tigem.it.
23
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. ballabio@tigem.it.
24
Jan and Dan Duncan Neurological Research Institute, Texas Children Hospital, Houston, TX, 77030, USA. ballabio@tigem.it.
25
Medical Genetics, Department of Translational Medicine, Federico II University, Via Pansini 5, 80131, Naples, Italy. ballabio@tigem.it.
26
Pediatrics Unit, UNIVPM, Ancona, Italy. o.gabrielli@univpm.it.

Abstract

Multiple Sulfatase Deficiency (MSD; OMIM 272200) is a rare autosomal recessive inborn error of metabolism caused by mutations in the sulfatase modifying factor 1 gene, encoding the formylglycine-generating enzyme (FGE), and resulting in tissue accumulation of sulfatides, sulphated glycosaminoglycans, sphingolipids and steroid sulfates. Less than 50 cases have been published so far. We report a new case of MSD presenting in the newborn period with hypotonia, apnoea, cyanosis and rolling eyes, hepato-splenomegaly and deafness. This patient was compound heterozygous for two so far undescribed SUMF1 mutations (c.191C > A; p.S64X and c.818A > G; p.D273G).

PMID:
25516103
PMCID:
PMC4299397
DOI:
10.1186/s13052-014-0086-2
[Indexed for MEDLINE]
Free PMC Article

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