Case Report - Serious life threatening upper airway obstruction in congenital generalized myofibromatosis

Abstract

We are reporting this patient who was presented with severe upper air way obstruction soon after delivery. She was a girl born with multiple firm nodules, variable in size, widespread all over the body with affection of the oropharynx, long bones, ribs, muscles, subcutaneous tissues, also lungs and intestine. Infantile myofibromatosis was proved on histopathological examination of the masses excised from the oropharynx at the age of 27 days to relieve the upper airway obstruction. The girl had passed the critical stage in NICU and was discharged home with tracheostomy tube. An autosomal recessive mode of inheritance was supported in our case as there was two other male sibs affected with a similar condition and the parents were healthy.

Keywords: Congenital; Infantile myofibromatosis CD34; CD117; S 100 protein; APGAR