The diagnosis of Morquio disease correlating the clinical, radiological and biochemical findings – a case series
Department of Biochemistry,
Jawaharlal Nehru Medical College, D.M.I.M.S. (D.U.),
Background: Mucopolysaccharidoses (MPS) are a group of genetic diseases and its diagnosis is a challenging task due to multiple differential diagnosis.
Materials and methods: We had conglomerated clinical findings, radiological and Ophthalmological features. Biochemical test for urine glycosaminoglycans (GAG) was done for confirmation of diagnosis in two pediatric patients.
Case summary: Both the cases of Morquio disease were characterized by short-trunk, dwarfism, fine corneal deposits, a skeletal dysplasia that was distinct from other MPS and their intelligence were normal. Radiological features were suggestive of Morquio syndrome and urine GAG test for MPS was positive in both the cases.
Discussion and Conclusion: With the clinical features we had multiple differential diagnoses. The radiological investigations minimized the list and the biochemical test confirmed GAG in urine. Combination of clinical, radiological and biochemical findings confirmed the diagnosis of Morquio syndrome in these two cases.