1/8. Coexistence of oto-palato-digital syndrome type II and Arnold-Chiari I malformation in an infant.A Taiwanese infant with clinically apparent oto-palato-digital syndrome type II had Arnold-Chiari I malformation. Arnold-Chiari I malformation has not been reported previously to occur in association with oto-palato-digital type II syndrome. The pathogenesis of both conditions has remain unclear although the Arnold-Cliari I malformation is most likely due to a developmental abnormality of improperly times or incomplete closure of the neural tube. We propose the physician who care for children with OPD type II must be aware of one more condition.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
2/8. Otolaryngological aspects of relapsing polychondritis: course and outcome.Relapsing Polychondritis (RP) is a rare disorder characterised by episodic inflammation of the cartilaginous structures. Differential diagnosis of this pathology is a challenging enigma since it appears only intermittently and none of the clinical features are pathognomonic, although most of the patients are usually referred to an ENT physician initially. The natural history of the disease is unpredictable. Initiating effective treatment sooner considerably reduces the rate of mortality. patients with RP should be seen on a regular basis even if the patient is non-symptomatic. This study reports a retrospective analysis of the otolaryngological manifestations of 7 patients with RP as well as their long-term progress and reviews the symptomatology, histopathology, immunology and management.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
3/8. scoliosis in CHARGE: a prospective survey and two case reports.charge syndrome was first identified as a cluster of congenital anomalies in 1979 and has since undergone diagnostic criteria modifications to include the major and minor characteristics that occur during infancy and childhood. As the individuals with charge syndrome have aged into their adolescents and adulthood, it has become increasingly common for them to develop scoliosis. This article presents an older population of individuals with charge syndrome and describes the prevalence of scoliosis, and identifiable risk factors for scoliosis. Two case reports demonstrate the variability of scoliosis in charge syndrome. A survey of adults and adolescents with charge syndrome was completed to collect information about late onset medical issues, and those identifying scoliosis as an issue, were further followed for more information. The total population (n=31) and then the subgroup of individuals with scoliosis (n=19) were analyzed. Sixty one percent (19 of 31) of this population was diagnosed with scoliosis. The age of charge syndrome diagnosis was later in the scoliosis population (6.3 years compared to 3.7 years in the no scoliosis population). growth hormone use was reported in 7 of 31 of the individuals; 6 of these subsequently were diagnosed with scoliosis (32% of the scoliosis group). Of the scoliosis subgroup, most were mild scoliosis but eight were diagnosed with moderate to severe scoliosis, and all of these were treated with either a brace (n=5) or with surgical fusion (n=2) and one individual had both. scoliosis in charge syndrome individuals is more common than previously reported, and the age of onset is earlier than when routine monitoring for scoliosis is recommended. The prevalence of scoliosis in the charge syndrome population is higher than in the general population therefore, it is very important for physicians to carefully monitor the spine for the development of scoliosis in children with charge syndrome, especially if they are being treated with growth hormone.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
4/8. Multifocal choroiditis in disseminated cryptococcus neoformans infection.PURPOSE: To report an uncommon case of multifocal choroiditis as the result of disseminated cryptococcus neoformans infection in a patient who is hiv-positive. DESIGN: Interventional case report. methods: A 27-year-old hiv-positive woman with fever, headache, and vomiting was examined. Lumbar puncture was performed and revealed C neoformans infection. Her condition evolved with sudden bilateral blindness and deafness. Ophthalmologic examination revealed multiple yellowish choroidal lesions in the posterior pole of both eyes. RESULTS: Postmortem examination showed disseminated C neoformans infection. Histologic examination of the eyes confirmed the presence of C neoformans in the choroiditis. CONCLUSION: Multifocal choroiditis in C neoformans infection is a rare ophthalmic manifestation. The recognition of this condition by ophthalmologists can help physicians to diagnose a disseminated and fatal disease.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
5/8. Identifying the sexually abused deaf child: the otolaryngologist's role.As a primary physician for most deaf children, the otolaryngologist must be able to identify signs and symptoms of sexual abuse. child sexual abuse is a topic of national concern as epidemiologic data indicate more than 100,000 American children become victims annually. This paper provides an overview of the incidence, demographic characteristics, risk factors, and dynamics of child sexual abuse within both the general handicapped and, specifically, the hearing imparied populations. Strategies for identifying the sexually abused hearing impaired child are delineated including the physical appearance and behavioral manifestations of child victims, as well as the characteristics of abusive caretakers and perpetrators. Case summaries are presented which illustrate these characteristics. A national center specializing in the evaluation and treatment of abused handicapped children is described.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
6/8. The Groll-Hirschowitz syndrome.Two sisters showed a similar disorder with cachexia, sensory deafness, and upper gastrointestinal abnormalities. The family pedigree suggests autosomal recessive inheritance of the disorder. Demyelinization demonstrated by a peripheral nerve biopsy may explain the basis for the manifestations. Only one family with this unique syndrome has been reported in the literature. The term "The Groll-Hirschowitz Syndrome" has been suggested, named after the two physicians who first described this condition.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
7/8. Posterior scleritis--an unusual manifestation of Cogan's syndrome.Cogan's syndrome is characterized by a non-luetic interstitial keratitis associated with vertigo, tinnitus and profound deafness. Evidence of a systemic vasculitis is found in up to 50% of patients. Atypical forms of Cogan's syndrome have been described in which the ocular inflammatory disease may be more severe. We describe a case of atypical Cogan's syndrome in association with bilateral posterior scleritis. Serial B-scan ultrasound measurements of posterior scleral thickness were found to be useful in assessing disease activity, in combination with clinical findings. Combination therapy with prednisolone and cyclosporin controlled the ocular disease but the deafness was irreversible. The length of follow-up of this case highlights the frequent relapses and difficult management problems which may be faced. This multisystem disease requires the close co-operation of ophthalmologist, physician and otorhinolaryngologist. Aggressive therapeutic intervention with high-dose combined immunosuppressive agents may be necessary to control severe ocular inflammatory disease.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
8/8. deafness and Mondini dysplasia in Kabuki (Niikawa-Kuroki) syndrome. Report of a case and review of the literature.Report of a case and review of the literature: We report the case of a seven-year-old female kabuki patient suffering from severe bilateral deafness related to Mondini dysplasia and ossicular anomalies. A review of the literature in English confirms that hearing loss is a major component of Kabuki Syndrome (KS) with a frequency at around 32%. However the possible mechanisms have not been fully described and hearing loss is often attributed to otitis media, but one reported case had severe ossicular malformations, two had sensorineural deafness and three others had mixed deafness. Our observation is the first reported case of Mondini dysplasia in KS. awareness by physicians of this problem has a major practical consequence as diagnosis of Mondini dysplasia implies searching for and surgical prevention and treatment of perilymphatic fistula in order to prevent meningitis.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |