What are the clinical features of MPS in neonates?
The clinical presentation of MPS can vary widely depending on the type and severity of the enzyme deficiency. In neonates, early signs may include:
- Dysmorphic facial features such as a flat nasal bridge, coarse facial features, and macrocephaly. - Hepatosplenomegaly, which is an enlargement of the liver and spleen. - Skeletal abnormalities like dysostosis multiplex, which includes thickened bones and joint stiffness. - Hydrocephalus, an accumulation of cerebrospinal fluid within the brain. - Respiratory issues due to upper airway obstruction.
