Early and delayed clinical manifestation

ABSTRACT

Pyknodysostosis [PKD], also called Maroteaux-Lamy disease or Toulouse-Lautrec syndrome is a rare osteosclerosing skeletal disorder that has an autosomal recessive trait. It is characterized by short stature, brachycephaly, short stubby fingers, open cranial sutures and fontanelles, diffuse osteosclerosis with attendant multiple fractures of long bones and osteomyelitis of the jaw; but with rare visceral manifestations. In this article we present three cases of PKD with diverse classical clinico-radiological features. Worldwide PKD have been reported in 9-months to 55 years but remarkably, we have presented amongst the youngest diagnosed cases, at 8months with visceral manifestations. Understanding early and delayed clinic-radiological manifestations of PKD is very important as accurate diagnosis of PKD avoid misdiagnosing it as hydrocephalous, cleidocranial dysostosis and osteopetrosis as the conditions may resemble each other clinically and radiologically