Primary distal renal tubular acidosis with sensorineural hearing loss is a rare autosomal recessive disease, usually caused by mutations in the ATP6V1B1 gene. The aim of this study was to characterise the phenotype of this disease, with emphasis on the auditory findings, in a cohort of Israeli children.

Prospective study of five children, from three unrelated families, with distal renal tubular acidosis and bilateral sensorineural hearing loss, with mutations in the ATP6V1B1 gene.

The following were collected from patients' medical records: biochemical and renal data, age at distal renal tubular acidosis diagnosis, and age at hearing loss. Hearing loss progression as well as current hearing status were assessed, and high resolution computed tomography of the temporal bone was performed. All patients underwent genetic testing.

Four patients were diagnosed with distal renal tubular acidosis before the age of six months and one at 24 months. All had the classical findings of low blood pH and inappropriately high urine pH. Hearing loss was diagnosed between the ages of three months and two years. The hearing loss was bilateral, asymmetrical and progressive, occasionally with a conductive component. Two children underwent cochlear implantation, at ages 10 and 15 years. High resolution computed tomography, performed in four patients between the ages of 2.5 and 15 years, showed bilaterally enlarged vestibular aqueducts. This was the only radiological abnormality in the inner ear in all cases. A different mutation in the ATP6V1B1 gene was found in each family.

Several types of mutations in the ATP6V1B1 gene may cause distal renal tubular acidosis and sensorineural hearing loss. Patients display a typical progressive type of hearing loss and have enlarged vestibular aqueducts, with no other abnormalities being observed on imaging.

Despite multiple systemic manifestations, sudden sensorineural hearing loss in a patient with antiphospholipid syndrome is rarely reported.

A 46-year-old man with primary antiphospholipid syndrome had a sudden onset of hearing loss and tinnitus in the right ear in December 2005, because he discontinued use of warfarin and acetylsalicylic acid for a few days.

Audiometry revealed saucer-type sensorineural hearing loss with a pure tone average of 73 dB in the right ear, and flat-type hearing loss with a pure tone average of 25 dB in the left ear. Electronystagmography displayed multiple central signs and bilateral canal paresis, while a vestibular evoked myogenic potential test revealed bilateral delayed responses. After admission, the patient was re-treated with warfarin and acetylsalicylic acid. Follow-up audiometry showed recovery of right-sided hearing, with a pure tone average of 12 dB, three days after presentation.

Consensus exists on the effectiveness of anticoagulant agents in aiding a favourable outcome of sudden sensorineural hearing loss in patients with antiphospholipid syndrome.

Nasopharyngeal carcinoma can present with a variety of symptoms the most common being painless cervical lymph node metastases, epistaxis and conductive hearing loss.

We report a case of an 18-year-old male patient presenting to the ENT department with left sided carotidynia – severe pain in the neck radiating up to his ear. He had a small, exquisitely tender lump just below the bifurcation of the left common carotid artery. After the appropriate investigations he was diagnosed with nasopharyngeal carcinoma.

In a literature search on Medline and Pubmed we found no reported cases of nasopharyngeal carcinoma presenting with carotidynia, nor was carotidynia ever found to be associated with nasopharyngeal carcinoma.

We believe that this is the first reported case of such a presentation of nasopharyngeal carcinoma.

We present a rare case of a jugular foramen meningocoele in a 48-year-old female, with neurofibromatosis type 1, presenting with positional vertigo. We also postulate possible underlying pathophysiological mechanisms.

We describe the imaging findings of this rare entity and review the literature on skull base meningocoeles, particularly in the context of neurofibromatosis type 1.

A computed tomography scan revealed smooth expansion of the jugular foramen. Magnetic resonance imaging showed a fluid filled lesion expanding the jugular foramen and communicating with cerebrospinal fluid of the cerebellomedullary cistern superiorly.

Skull base meningocoeles are a rare entity and we believe that this is the first reported case of a meningocoele causing enlargement of the jugular foramen in a patient with neurofibromatosis type 1. The meningocoele may have resulted from a severe form of dural ectasia or from dysplastic, weakened bone at the skull base.