Alagille Syndrome: A Case Report.

Alagille Syndrome (ALGS) is a rare, autosomal dominant inherited disorder that causes abnormalities of liver, eye, heart, skeleton and distinctive facial appearance. ALGS is caused by mutation in one of two genes: JAG1 and NOTCH2. There are some reports of Hearing Loss in patients with ALGS raising the possibility of involvement of both structural components of middle ear and sensorineural components of the inner ear. The present case study was to emphasize audiological perspectives of Alagille Syndrome in a nine year old female child. Audiologists must be well aware of the typical features and clinical perspectives of ALGS and should be an expert in selecting appropriate tests and in interpreting findings.

Oropharyngeal Dysphagia: neurogenic etiology and manifestation.

To determine the type, severity and manifestation of dysphagia in patients with neurogenic etiology. Clinical documentation was done on the different etiologies, its manifestation, assessment findings and management strategies taken for patients with neurogenic oropharyngeal dysphagia who were referred for assessment and management of dysphagia over a period of three months in a tertiary care teaching hospital. Flexible endoscopic examination was done in all the patients. The severity of dysphagia in these patients were graded based on Gugging Swallowing Screen (GUSS). A total of 53 patients with neurogenic oropharyngeal dysphagia were evaluated by an otolaryngologist and a speech language pathologist over a period of three months. The grading of severity based on GUSS for these patients were done. There were 30 patients with recurrent laryngeal nerve injury due to various etiologies, one patient with Neurofibroma-vestibular schwanoma who underwent surgical excision, 16 patients with stroke, two patients with traumatic brain injury, two patients with Parkinsonism and two patients with myasthenia gravis. The manifestation of dysphagia was mainly in the form of prolonged masticatory time, oral transit time, and increased number of swallows required for each bolus, cricopharyngeal spasms and aspiration. Among the dysphagia patients with neurogenic etiology, dysphagia is manifested with a gradual onset and is found to have a progressive course in degenerative disorders. Morbidity and mortality may be reduced with early identification and management of neurogenic dysphagia.