Background: Mucopolysaccharidosis 6 (MPS6) (or MaroteauxLamy syndrome) is a rare genetic disease characterized by progressive systemic disease caused by a deficiency of N-acetylgalactosamine 4-sulfatase which causes an accumulation of dermatan sulfate (DS). It is due to mutations in the BRSA gene, located on chromosome 5. In severe cases, the accumulation of DS in the body cells occurs mainly in bones, joints, eyes, heart and brain. Its association with anterior pituitary deficiency has been rarely reported.
Objective and hypotheses: Report an observation of mucopolysaccharidosis.
Observation: AN, aged 3 years old was admitted for congenital hypothyroidism. Clinical examination revealed a significant growth retardation (−3DS/M and TC) psychomotor retardation, signs of somatothyréotrop insufficiency a dysmorphic syndrome characteristic of MPS, a sleep apnea syndrome with hepatomegaly, splenomegaly and an umbilical hernia. Urinary GAG assay and hypophysiogramme confirmed diagnosis of MPS and dissociated hypopituitarism. Exploring brain imaging showed hydrocephalus.
Conclusion: Among the lysosomal storage diseases, the MPS 6 causes characteristic skeletal dysplasia with small stature, dysostosis multiplex and degenerative arthropathy. Other clinical manifestations may involve: valvulopathy, mixed pulmonary syndrome, obstructive and restrictive, hepatosplenomegaly, sinusitis, otitis media, hearing loss, sleep apnea, corneal clouding, carpal tunnel syndrome, inguinal or umbilical hernia. Neurological manifestations are possible spinal compression spinal instability, meningeal thickening and/or spinal stenosis and hydrocephalus. The existence of the latter must consider hormonal explorations to detect precociously hypopituitarism and treat. The course is variable, sometimes slowly, sometimes rapidly progressive. Death occurs before the 2nd or 3rd decade. The therapeutic management includes symptomatic treatment and transplantation of hematopoietic stem cells.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology