Audiologic abnormalities of Fanconi anaemia.

CONCLUSIONS: The most common audiologic manifestation in Fanconi anaemia (FA) was asymmetrical bilateral conductive hearing loss that was more severe at lower frequencies and in some cases had a progressive character. The routine screening of all patients diagnosed with FA allowed the recognition of mild hearing loss and the prevention of the deleterious effects of its progression with adequate rehabilitation measures. OBJECTIVES: FA is an autosomal recessive disease characterized by bone marrow failure, multiple congenital anomalies and increased susceptibility to malignancy. Otologic manifestations in FA include morphologic anomalies affecting the ear structures and hearing loss. This report is a retrospective review of the most important features, including audiologic features, in children with FA attending a paediatric hospital. SUBJECTS AND METHODS: The medical records of eight patients with FA were reviewed and patient demographics, physical abnormalities, haematological characteristics at diagnosis and otological and audiological features were analysed. RESULTS: Eight patients (five females, three males), aged between 3 and 13 years old, have been followed for at least 1 year in our hospital. In all, 50% (four of eight) of our population has hearing loss. It is an asymmetrical, bilateral, conductive hearing loss that is more severe at lower frequencies. Two patients (25%) have unilateral type I microtia and stenotic external ear canal.

Auditory brainstem response in two children with autism.

Autism develops before 30 months of age. Autistic disorder is characterized by a qualitative impairment in verbal and non verbal communication, in imaginative activity, and in reciprocal social interactions. Communication in autism is so strikingly impaired that the function of the hearing system has been under study over the past 30 years, namely after the advent of physiological assessment of hearing with the auditory brainstem response (ABR). Many research studies were developed to study ABR in autism as they constitute a direct test of both hearing status and integrity of brainstem pathways, but the results obtained are contradictory. The authors present case reports of two children with autistic disorder, 2 and 4 years of age, in which the ABR findings document a prevalent Peak I in the four ears tested. This characteristic configuration in ABR has not been previously reported and future work is needed to establish the importance of this finding and its implications in the awareness of the auditory status in these children.

Hydroxychloroquine ototoxicity in a child with idiopathic pulmonary haemosiderosis.

Hydroxychloroquine, a quinoline compound, rarely causes ototoxicity. According to the few reports in existence, hydroxychloroquine-induced ototoxicity occurred following prolonged therapy in adult patients with rheumatoid arthritis and lupus erythematosus. We report a case of unilateral sensorineural hearing loss in a 7-year-old girl with idiopathic pulmonary haemosiderosis, after 2 years of hydroxychloroquine treatment. Sensorineural hearing loss has previously been reported with hydroxychloroquine treatment, but this is the first report in a child and associated to idiopathic pulmonary haemosiderosis and has the characteristic of being unilateral.