Paola Menduno

Recurrent hyperCKemia with normal muscle biopsy in a pediatric patient with neuromyelitis optica

Neuromyelitis optica (NMO) is a demyelinating disease of the CNS that preferentially affects the optic nerve and spinal cord.1 The presence of circulating autoantibodies (NMO–immunoglobulin G [IgG]) having the water channel aquaporin-4 (AQP-4) as their target antigen is associated with NMO.1 Outside the CNS AQP-4 is present in the distal collecting tubes of the kidney, in parietal cells of the stomach,2 and in fast-twitch fibers of skeletal muscle.3 Several findings support the idea that AQP-4 water channels may be associated to the dystrophin-glycoprotein complex (DGC) in skeletal muscle fibers and AQP-4 expression has been found altered in muscle diseases.4

Monolateral Visual Loss Due To Cryptococcal Meningitis

A case of retrobulbar monolateral optic neuritis due to disseminated Cryptococcosis in a 32-year-old man with a new diagnosis of AIDS is described in the era of combination antiretroviral therapy (cART). The patient presented a monolateral rapid visual loss on day 7 of a liposomal amphotericin B treatment. Neuroradiological imaging showed the presence of retrobulbar neuritis. After starting ART and intravenous metilprednisolone 1 g daily for 3 days, we assisted to a progressive improvement of visual acuity. At 3 months of follow-up, complete clinical resolution was obtained. In this case, in the presence of effective antiretroviral and antifungal treatment, a short course of metilprednisolone was a safe therapy.

Retinopathy during interferon-β treatment for multiple sclerosis: case report and review of the literature

The onset of new visual symptoms in patients with multiple sclerosis is often associated with a neuro-ophthalmologic manifestation of the disease. However, other possible differential diagnoses need to be ruled out, including drug-induced retinal side effects. Although uncommon, retinal side effects of interferon-beta formulations may occur, and need to be promptly recognized and treated by neurologists. In this manuscript, we report the case of a 37-year-old woman affected by multiple sclerosis diagnosed with interferon beta-associated retinopathy and we review the literature with regard to the epidemiology, clinical presentation, management and follow-up of interferon beta-associated retinopathy. Interferon-beta induced retinopathy seems to be an uncommon and a dose-related side effect in multiple sclerosis patients. Retinopathy tends to completely resolve after treatment discontinuation. Neurologists must be aware that immune-modulatory drugs, in particular interferon beta, have been reported to cause retinal side effects. In multiple sclerosis patients complaining of new visual symptoms during interferon-beta treatment, it is thus advisable to perform an ophthalmological assessment to rule out and properly manage retinopathy.

Evoked otoacoustic emissions behaviour in retinitis pigmentosa

The hearing function was studied in 26 patients affected by retinitis pigmentosa (RP) and in their relatives. Sixteen patients showed bilateral normal hearing when examined with traditional audiometric methods. In these normoacusic patients evoked otoacoustic emissions (EOE) have been studied. The EOE offer a unique opportunity to measure objectively the function of outer hair cells: they record the amplitude of the energy produced by the outer hair cells of the coclea following an acoustic stimulation. The data have been statistically compared, using the Students t-test, with those obtained in a homogeneous control-group of normal subjects. In normoacusic subjects with RP the average values of EOE intensity are statistically lower than those of normal subjects in 64 of the 127 frequency bands examined. Moreover, the distribution of the EOE in patients with retinitis pigmentosa proved to be more discontinous than that observed in the normal subjects. The EOE recorded in 14 normoacusic relatives show in some cases small anomalies but the data, on account of the limited sample group, cannot be statistically evaluated. Therefore a subclinical alteration of the Organ of Corti is found in 100% of the patients affected by RP, although they appear to be normoacusic to usual audiometric tests.

Study of functionality of cochlear outer hair cells in patients with retinitis pigmentosa

Hearing functionality was studied in 30 patients affected by retinitis pigmentosa (RP) and 25 of their relatives. These patients were defined as normal-hearing on the basis of pure-tone threshold audiometric and acoustic immittance tests. The evoked otoacoustic emissions (EOEs) were studied in these normal hearing patients. EOEs are an extremely sensitive method to study the functionality of the outer hair cells of the organ of Corti. In RP patients and in their relatives the values of EOE (amplitude, intensity and frequency) were found to be statistically reduced compared to those of control subjects. The EOEs turned out to be clearly pathological in 60% of patients with RP and in 24% of their relatives. During the embryologic development there is one transitory axoneme in the outer hair cells of the organ of Corti. This axoneme is important for the organization of the stereocilia. The axonemes are found inside a few mature hair cells, including the photoreceptors. The alteration of cochlear outer hair cells in a high percentage of patients with RP and in some of their relatives seems to corroborate the hypothesis that, in many cases, retinitis pigmentosa may be due to a structural anomaly of the ciliated cells.

Combined surgery and cryotherapy for melanoma of the conjunctiva: 37 months' follow-up.

A patient with large conjunctival melanoma in the superior fornix is described. The disease was treated by excision of the mass combined with cryotherapy delivered to the surrounding flat intraepithelial areas of involvement. The patient was free from local recurrence and metastatic spread for 37 months after surgery

Evaluation of functionality of cochlear outer hair cells in patients with retinitis pigmentosa and in their relatives

Hearing functionality was studied in 36 patients with retinitis pigmentosa (R P) and 29 of their relatives. These patients were defined as having bilateral normal hearing on the basis of tonal-threshold audiometric and acoustic-immittance tests. The transiently evoked otoacoustic emissions (T E O A Es) were studied in these normal hearing patients. T E O A Es represent an extremely sensitive method to study the functionality of the outer hair cells of the organ of Corti. When the values of T E O A E amplitude, intensity, and frequency in R P patients and in their relatives were compared with those in control subjects, they were found to be significantly reduced. The T E O A Es were clearly pathological in 52.8% of patients with R P and in 24.1% of their relatives. During embryologic development, there is one transitory axoneme in the outer hair cells of the organ of Corti; this transitory axoneme is important for the organization of the stereocilia. Axonemes are found in mature hair cells, including photoreceptors. The alteration of cochlear outer hair cells in a high percentage of patients with R P and in some of their relatives corroborates the hypothesis that, in some instances, retinitis pigmentosa may be due to a structural anomaly of the ciliated cells.