1/6. Pyknodysostosis: a report of two siblings with unusual manifestations.We report pyknodysostosis presenting as extramedullary haematopoiesis in one of two siblings and as obstructive airway disease in the other. Visceral manifestations are rare and have been reported in only two cases in the Indian literature. They have often been mistaken for osteopetrosis, haemolytic anaemia and other osteochondrodystrophies. The cases we report illustrate that, though the physical characteristics may be similar, it is the radiological features that are typical and help establish the diagnosis.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/6. Launois-Bensaude syndrome in a female with type 2 diabetes.BACKGROUND: The Launois-Bensaude syndrome (LBS) is a rare disease characterized by an accumulation of multiple lipomata with a preponderance at the thorax, abdomen, upper arms and the thighs. Frequently, the condition is associated with past or present alcohol abuse with no clear temporal coincidence between the onset and termination of lipomata growth and onset or termination of alcohol consumption. Due to the massive accumulation of adipose tissue, the patients frequently have features of the metabolic syndrome as hypertension, impaired fasting glucose or diabetes mellitus, hyperuricemia or hyperlipidemia. CASE REPORT: A 79-yr-old female observed an increase of fat mass especially at the upper arms, the thighs and the thorax in combination with a weight gain of 19 kg within 2 years without any changes in the nutrition habits. The unique features confirmed the diagnosis of LBS. Interestingly, she had diabetes mellitus, hypertension and hyperlipidemia before the manifestation of LBS and without any history of heavy alcohol consumption. Furthermore, the condition predominantly affects males. In her very case, treatment with sultanol, as successfully performed in some cases, could not be recommended due to her cardiac insufficiency. A surgical approach is of limited value due to the frequent relapses of the lipomata. CONCLUSIONS: Establishing the diagnosis of LBS is an important step for patients confronted with an inexplicable physical disfigurement that is not related to excessive nutrition. The disease is often not diagnosed because of its rareness, but its features are unique and easily to be distinguished from 'simple' truncal obesity.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/6. Obstructive sleep apnea in head and neck cancer patients post treatment ... something to consider?Obstructive sleep apnea (OSA) occurs due to enlarged tissue such as tonsils, base of tongue or palate, pharyngeal space narrowing, or decreased muscle tone of the pharyngeal dilator muscles. Treatments for head and neck cancer may cause physical changes resulting in OSA. Based on recent anecdotal experience and limited research available looking at the incidence of OSA in post treatment head and neck cancer patients, assessment for signs and symptoms of OSA by otorhinolaryngology nurses seems warranted. Prompt diagnosis and treatment of OSA in the patient with head and neck cancer may significantly improve the person's health and quality of life.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/6. Large anterior skull base lesions in patients presenting with obstructive sleep apnea. Report of two cases and review of the literature.patients with sleep apnea often are treated by sleep disorder specialists and are studied in a sleep laboratory. The authors present two such patients who ultimately were found to harbor large benign anterior skull base lesions that caused their obstructive sleep apnea (OSA). The first patient had a massive pituitary tumor and had undergone a tracheostomy before the lesion was diagnosed. The second patient had a large frontoethmoidal encephalocele that was diagnosed at the same time as a recommendation for continuous positive airway pressure therapy was being considered. Such therapy in the presence of an encephalocele can be dangerous and even fatal. Although there are case reports of tumors causing OSA, nearly all of these lesions have been large pharyngeal lipomas (some of which were palpable in the neck during physical examination) or growth hormone-secreting pituitary adenomas. The patients reported here were completely unaware of the presence of these large lesions until imaging studies and/or nasal endoscopy were performed. These cases illustrate the need to perform nasopharyngeal endoscopy and also to obtain magnetic resonance images of the head before prescribing therapy for OSA. Neurosurgeons must be aware that large skull base lesions sometimes present only with OSA.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/6. Multidisciplinary management of the airway in a trauma-induced brain injury patient.laryngomalacia occurs in some brain injury patients secondary to global muscle hypotonia. Surgical therapies for epiglottis prolapse have centered around removal or reshaping of the epiglottis. This approach has brought mixed success and frequent complications. We present a case that demonstrates successful nonsurgical treatment of a 33-year-old male brain injury patient with moderate obstructive sleep apnea that is believed to be a consequence of post-brain injury nocturnal epiglottis prolapse. The presence of a tracheostomy performed at the time of emergency surgery had become an emotional and physical barrier to our patient's recovery. The tracheostomy could only be reversed if the obstructive sleep apnea disorder could be managed in an alternative fashion. A titratable mandibular repositioning appliance was prescribed and its effectiveness was demonstrated with nasolaryngoscopy and polysomnography. After initially fitting the oral appliance, a period of accommodation and gradual protrusive adjustments was allowed. Subsequent confirmation polysomnography demonstrated improvement, but not suitable resolution, of disordered breathing events. However, an additional 1.25-mm protrusive titration of the oral appliance during the course of the confirmation polysomnogram led to therapeutic success. The patient's tracheostomy was subsequently reversed with significant quality of life benefits.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/6. The high-resolution chest CT findings in an adult with Melnick-needles syndrome.Melnick-needles syndrome is an X-linked dominant skeletal dysplasia in which patients often succumb at an early age to chronic pulmonary disease. Radiographic findings of Melnick-needles syndrome consist of characteristic bony abnormalities and interstitial lung disease. We present the high-resolution computed tomographic (CT) findings in a 39-year-old survivor of Melnick-needles syndrome. The clinical and physical exam findings also demonstrate an association between Melnick-needles syndrome and obstructive sleep apnea.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |