Head and Neck Imaging

Hurler's syndrome

(Gertrud Hurler, 1889-1965, Austrian paediatrician), type I mucopolysaccharidosis. Patients generally present with hepatosplenomegaly, severe skeletal abnormalities and progressive mental retardation. Several anatomical abnormalities predispose these patients to upper airway obstruction; these include a short neck, relatively high epiglottis, a deep cranial fossa narrowing the nasopharynx, hypoplastic mandible, ankylosis of the temporomandibular joints, narrowing of the rib cage and infiltration of the pharyngeal tissues by mucopolysaccharides.

RH