1/3. Spontaneous intracranial hypotension: a rare cause of labyrinthine hydrops.Spontaneous intracranial hypotension should be considered as a possible cause of cochlear hydrops. We report a case of unilateral hearing loss attributed to spontaneous intracranial hypotension on the basis of characteristic abnormalities seen on magnetic resonance imaging. The diagnostic gold standards for intracranial hypotension are lumbar measurement of cerebrospinal fluid pressure and magnetic resonance imaging. The usual treatment is an autologous blood injection into the peridural spaces. The mechanism of hearing loss is thought to involve secondary perilymph depression due to a patent cochlear aqueduct. This perilymph depression would induce a compensatory expansion of the endolymphatic compartment, with a subsequent decrease in basilar or Reissner's membrane compliance. endolymphatic hydrops can occur in the course of intracranial hypotension, and not only because of abnormal endolymph production or resorption. Hydrops can thus be classified into 1) syndromes of endolymphatic origin and 2) syndromes of perilymphatic origin, in which loss of perilymph induces compensatory expansion of the endolymphatic space.- - - - - - - - - - ranking = 1keywords = intracranial hypotension, hypotension (Clic here for more details about this article) |
2/3. Identification of a novel tandem duplication in exon 1 of the TNFRSF11A gene in two unrelated patients with familial expansile osteolysis.Familial expansile osteolysis (FEO) is a rare autosomal dominant disorder characterized by striking focal expansile osteolytic bone lesions and generalized osteopenia, often accompanied by characteristic early hearing loss and dental disease. The TNFRSF11A gene encodes the receptor activator of nuclear factor-kappaB (RANK), which has been demonstrated to be essential in bone remodeling and osteoclast differentiation. Identical insertional mutations in the first exon of RANK have been identified in all published FEO kindreds. The mutation is an 18 base pair tandem duplication in the sequence coding for the signal peptide of RANK, which causes an increase in NF-kappaB signaling. We report the identification and mutational analysis of two unrelated FEO patients. One had no family history of FEO, but presented with bilateral hearing loss at an early age, deterioration of teeth, and severe pain and swelling in the distal tibia before the age of 20. The second patient had a family history of FEO and exhibited an extensive expansile tibial lesion and lesions in one humerus and a phalanx. She also had early hearing loss and dental disease. Mutational analysis of the TNFRSF11A gene in our patients demonstrated an 18 base pair tandem duplication, one base proximal to the duplications previously reported. This novel mutation results in addition of the same six amino acids to the RANK signal peptide that has been observed previously. Further analysis of the exon 1 sequence demonstrated that it has the ability to form a stable secondary structure that may facilitate the generation of tandem duplications.- - - - - - - - - - ranking = 1.6583027401409E-6keywords = essential (Clic here for more details about this article) |
3/3. Sudden hearing loss in the contralateral ear in postoperative acoustic tumor: three case reports.Careful presurgical otologic assessment of the contralateral ear in acoustic tumor patients is essential, not only to establish baseline data but more importantly to resolve the intense patient anxiety that arises almost immediately when the diagnosis is presented. Any subsequent reduction in hearing acuity in the contralateral ear after the tumor ear has been deafened, poses serious psychological, socio-economic and medical problems. Three detailed case reports of sudden hearing loss in the contralateral ear of postoperative acoustic tumor patients are presented. The lesion sites include: the middle ear, cochlear, and retrocochlear. In each case, hearing returned to its previous or near-previous levels. Allergic factors were implicated in two cases.- - - - - - - - - - ranking = 1.6583027401409E-6keywords = essential (Clic here for more details about this article) |