The Language Difficulties Leading to Mucopolysaccharidoses

The mucopolysaccharidoses (MPS) is a lysosomal storage disorder caused by the deficiency of enzymes required for the stepwise breakdown of glycosaminoglycans (GAGs). MPS is a rare condition, with an estimated total incidence of approximately 1 in 20000 live births. MPS type II or Hunter syndrome is a hereditary genetic disease linked to the X chromosome and is caused by the enzymatic deficiency of iduronate-2-sulfatase.

A 28-month-old boy, was admitted in paediatric with language difficulties. He has no relevant obstetric and family history. Normal growth with cephalic perimeter always in P95. Bilateral inguinal hernia surgery at 15 months. Chronical nasal obstruction with adenoid hypertrophy. Normal motor development with small delay in expressive language.

We observed macrocephaly, rough facial features (including a broad nose, thick lips and enlarged mouth and tongue), excessive body hair growth and hepatomegaly. The abdominal echography revealed hepatomegaly without splenomegaly or other alterations. Electrical and echocardiogram were normal. Without hearing loss or cornea opacity. The analytical study showed normal hemogram, lipid panel, hepatic and thyroid function. From the remaining investigation is important to emphasize the increased levels of GAG’s in urine excretion. He was sent to Metabolic Unit, where was confirmed and diagnosed the enzymatic deficiency of iduronate-2-sulfatase, MPS type II. He began enzyme replacement therapy at 32 months with regression of hepatomegaly and improved facial features.

The MPS is a lysosomal disease with large spectrum of presentation with severe types manifested in first year or attenuated forms with diagnostic in adult. There for it is necessary a high suspicion to do the diagnosis.

In the present case, the early diagnosis was possible due to a detailed clinical history and a meticulous objective examination. The early enzyme replacement therapy leads to a better quality of life whereas after the establishment of the sequels these are not reversible.