Sly syndrome

Classification according to ICD-10
E76.2	Other mucopolysaccharidoses
ICD-10 online (WHO version 2019)

The Sly syndrome is a very rare congenital disease belonging to the mucopolysaccharidoses (MPS) with the main features of moderate dysmorphism and malformations of the skeleton and corneal opacity .

Synonyms are: mucopolysaccharidosis VII; Beta-glucuronidase deficiency; English GUSB Deficiency

The name refers to the first author of the first detailed description from 1973 by the American pediatrician William S. Sly and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, so far about 40 families have been reported. Inheritance is autosomal - recessive .

root cause

Of the disease are mutations in GUSB - gene in chromosome 7 at locus q11.21 based coding for the β-glucuronidase encoded. The beta-D-glucuronidase deficiency leads to the storage of glycosaminoglycans such as dermatan sulfate , heparan sulfate and chondroitin sulfate in the lysosomes .

Clinical manifestations

Clinical criteria are:

There are three different types of progression:

Prenatal form with non- immunologically -related fetal hydrops
Neonatal form , age of onset 1st-5th Year of life with facial abnormalities, rough facial features, hernias , corneal opacities , hepatosplenomegaly , short stature , thoracic deformity , kyphosis , clubfoot and intellectual disability
Mild form , manifestation only in school age or in adults of normal size without impairing mental development

diagnosis

The x-ray shows changes in a dysostosis , and in the laboratory an increased excretion of MPS (glycosaminoglycans) in the urine (except possibly in the mild form). The diagnosis is confirmed by evidence of a beta-D-glucuronidase deficiency.

Differential diagnosis

Other types of MPS and oligosaccharidoses must be differentiated from a differential diagnosis.

Sly syndrome in animals

Sly syndrome is also very rare in dogs. More commonly affected breeds are the German Shepherd Dog and Welsh Corgis .

literature

TJ Gniadek, N. Singer, NJ Barker, PJ Spevak, BJ Crain, D. Valle, MK Halushka: Cardiovascular pathologies in mucopolysaccharidosis type VII (Sly Syndrome). In: Cardiovascular pathology: the official journal of the Society for Cardiovascular Pathology. Volume 24, number 5, 2015 Sep-Oct, pp. 322-326, doi: 10.1016 / j.carpath.2015.06.001 , PMID 26141114 .
S. Tomatsu, AM Montaño, VC Dung, JH Grubb, WS Sly: Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). In: Human mutation. Volume 30, number 4, April 2009, pp. 511-519, doi: 10.1002 / humu.20828 , PMID 19224584 , PMC 3048808 (free full text) (review).
PM Gillett, RA Schreiber, GP Jevon, DM Israel, T. Warshawski, H. Vallance, LA Clarke: Mucopolysaccharidosis type VII (Sly syndrome) presenting as neonatal cholestasis with hepatosplenomegaly. In: Journal of Pediatric Gastroenterology and Nutrition . Volume 33, Number 2, August 2001, pp. 216-220, PMID 11568529 (review).

Individual evidence

↑ ^a ^b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
↑ ^a ^b ^c ^d ^e Mucopolysaccharidosis type 7. In: Orphanet (database for rare diseases).
^ WS Sly, BA Quinton, WH McAlister, DL Rimoin: Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis. In: The Journal of Pediatrics . Vol. 82, No. 2, February 1973, pp. 249-257, PMID 4265197 .
^ Mucopolysaccharidosis VII. In: Online Mendelian Inheritance in Man . (English)
^ Margret L. Casal: Hereditary diseases. In: Peter S. Suter and Barbara Kohn: Internship at the dog clinic. 10th edition, Paul Parey, Stuttgart 2006, ISBN 978-3-8304-4141-0 , p. 194.

Web links

[Leiber-1] Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .

[Orpha-2] Mucopolysaccharidosis type 7. In: Orphanet (database for rare diseases).

[3] WS Sly, BA Quinton, WH McAlister, DL Rimoin: Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis. In: The Journal of Pediatrics . Vol. 82, No. 2, February 1973, pp. 249-257, PMID 4265197 .

[4] Mucopolysaccharidosis VII. In: Online Mendelian Inheritance in Man . (English)

[5] Margret L. Casal: Hereditary diseases. In: Peter S. Suter and Barbara Kohn: Internship at the dog clinic. 10th edition, Paul Parey, Stuttgart 2006, ISBN 978-3-8304-4141-0 , p. 194.