Congenital Insensitivity to Pain due to a de novo L369P mutation in the SCN11A gene with Heterotrophic Ossification - A Case Report.

INTRODUCTION

A male child with congenital insensitivity to pain (CIP) due to a novel de novo L369P mutation in the SCN11A gene was found to have significant bilateral hip flexion contractures, followed by severe heterotopic ossification after contraction release. This is the first report to describe a patient with this specific mutation and subsequent clinical course.

CASE REPORT

A male child with CIP due to de novo L369P mutation in the SCN11A gene was found to have significant bilateral hip flexion contractures. The patient underwent bilateral hip contracture releases to improve his standing ability after failure of conservative treatment. In the coming months he developed significant heterotopic ossification that eventually bridged from the left pelvis to the left femur.

CONCLUSION

Heterotrophic ossification (HO) in patients with CIP is a rare and poorly understood clinical manifestation. Our report describes a rare and aggressive manifestation of HO in a patient with CIP.