DEFICIENCY OF LARYNGEAL COLLAGEN TYPE-II IN AN INFANT WITH RESPIRATORY-PROBLEMS

A dysmorphic infant is described who presented with laryngeal collapse leading to intubation and respiratory problems that were assigned cli nically to the Sussman syndrome. The baby had repeated episodes of res piratory distress necessitating assisted ventilation. At 6 months old, uvulopharyngopalatotomy was done to enlarge the supraglottic airway w ithout any benefit. Surgical reduction of the tongue and cricoid split ting did not ameliorate the respiratory distress; repeated extubation attempts failed with the baby developing strider, respiratory distress , and episodes of cardiac arrest. At 10 months old he developed seizur es and computed tomography showed diffuse cerebral atrophy consistent with hypoxic-ischaemic damage. He died at 17 months old. Western blots using antibodies against collagen a(1) (II) showed an absence of coll agen type II in laryngeal tissue, which may explain the laryngeal coll apse and impaired respiratory functions.