Early diagnosis of Maroteaux-Lamy syndrome in two patients with accelerated growth and advanced bone maturation.
The diagnosis of mucopolysaccharidosis (MPS) VI is usually not made before the age of 2 or 3 years when the main clinical signs of dwarfed stature, skeletal deformities, coarsening facies, stiff joints and hepatosplenomegaly described in textbooks are recognisable. Conversely, accelerated growth with advanced bone age, a precocious feature of this condition although not suggestive of a storage disorder, is usually neither recognised, nor adequately interpreted. We report on two infants with MPS VI who presented with these two "unexpected" features within the 1st year of life.


CONCLUSIONS
Recognition of precocious excessive growth in a mucopolysaccharidosis enables an early diagnosis, the prime responsibility of the clinician, in order to propose early treatment like bone marrow transplantation or active recombinant sulphatase therapy, and appropriate genetic counselling.
Heron
Delphine
D
Département de Génétique, Hôpital de la Pitié-Salpêtrière, 47-83 bd de l'hôpital, 75651 Paris Cedex 13, France. delphine.heron@psl.ap-hop-paris.fr
Baumann
Clarisse
C
Benichou
Jean Jacques
JJ
Harpey
Jean Paul
JP
Le Merrer
Martine
M
D000886:Anthropometry; D001848:Bone Diseases, Developmental / Q000209:etiology*; D042241:Early Diagnosis; D006130:Growth Disorders / Q000209:etiology*; D006801:Humans; D007223:Infant; D008297:Male; D009087:Mucopolysaccharidosis VI / Q000175:diagnosis*