Case Report of Spondyloepiphyseal Dysplasia Secondary to Conginetal Hypothyroidism

Abstract

BACKGROUND: Spondyloepiphyseal dysplasia as a sign of untreated congenital hypothyroidism is rare nowadays due to implementation of neonatal screening and increased awareness of pediatricians to detect hypothyroidism earlier. But neonatal screening is not routinely done in the developing countries. Congenital hypothyroidism is still unrecognized in some parts of developing world. OBJECTIVE: To describe the clinical, radiographic features and to stress the importance of screening of hypothyroidism during infancy and childhood and its current management. METHODS: Detailed history, physical examination and investigations. CONCLUSION: This report underscores the importance of detailed family history and physical examination in the diagnosis of spondyloepiphyseal dysplasia due to untreated congenital hypothyroidism, which was not screened for hypothyroidism during neonatal life. Being a treatable cause, hypothyroidism should always be considered as differential diagnosis of spondyloepiphyseal dysplasia, especially if the patient belongs to the developing world.