Otological manifestations of thalassaemia intermedia: evidence of temporal bone involvement and report of a unique cholesteatoma-like lesion

Abstract

Thalassaemia intermedia should be considered in any chronically anaemic patient presenting fromthe Middle East with hearing impairment. We report here three Saudi siblings with thalassaemia intermedia and features of severe bone marrow expansion, particularly invading the temporal bone. They were seen first for their otological problems before they had access to proper haematological evaluation. One member was admitted for surgical exploration of a cholesteatoma, which was then found to be marrow expansion of the temporal bone. Screening of the family revealed twomore anaemic siblings with thalassaemia intermedia. Audiological examination of all the family members showed that only the two affected members had a high frequency sen-sori-neural hearing loss.Bone marrow expansion into the temporal bone is a rare feature of thalassaemia intermedia. Cholesteatoma-like lesion has not been previously described. It has to be considered in all cases of symptomatic thalassaemia intermedia manifesting with cavitation and lytic lesions in the mastoid system. The likelihood that sensorineu-ral hearing loss may complicate the thalassaemias israised and the possible mechanism for such involvement discussed. The proper management for different otological manifestations of the thalassaemias is suggested. These cases would suggest amore extensive involvement of the temporal bone in the thalassaemias than has been previously recognized. Further large scale studies are required to illuminate the subject.

Aetiological investigations of hearing loss in childhood: a review

“…Patients of Asian origin should also be screened for thalassemia, which can be associated with high frequency SNHL or middle ear related (conductive) hearing loss, both of which may be the presenting feature of the disease. 62 In thalassemia, the high frequency hearing loss may present later or deteriorate due to desferioxamine treatment. 63 Sickle cell disease is also associated with hearing loss, particularly after sickle cell crises.…”

Otalgia as the first presenting complaint in a patient with beta thalassemia: Case Report

“…Our patient did not have such a facial appearance. Sheikha et al (7) reported that the otoscopic examination of their case revealed intact pars tensa and granulation tissue superior to pars flaccida in the left tympanic membrane. The otoscopic examination of our patient revealed an intact left tympanic membrane and a redpurple appearance was observed behind the tympanic membrane.…”

“…Craniofacial abnormalies with maxillary hypertrophy may be seen in patients with thalassemia intermedia. Sheikha et al (7). noted that their patient had thalassemic facies with maxillary hypertrophy.…”

“…In their case report published in 1992, Sheikha et al (7) reported the presence of temporal bone involvement in 3 siblings with thalassemia intermedia. One of these siblings, an 18-year-old male patient had been suffering from hearing loss in the left ear for 3 years.…”

Marrow proliferation as a cause of hearing loss in beta-thalassaemia major

“…In addition, Sheikha et al reported a case of three Saudi Arabian siblings suffering from thalassaemia intermedia with features of severe marrow expansion, one of whom presented with a left-sided conductive hearing loss and CT findings suggestive of a cholesteatoma 11 . On surgical exploration, the mastoid and middle-ear cavities were found to be filled with vascular tissue.…”