Concomitant primary hyperparathyroidism, Graves' disease and vitamin D deficiency.

The simultaneous occurrence of hyperthyroidism and primary hyperparathyroidism is quite rare. A case is reported here of Graves' disease and primary hyperparathyroidism. Treatment of these concomitant diseases consists in combined thyroidectomy and parathyroidectomy. Histological examination confirmed Graves' disease and revealed the presence of a parathyroid adenoma in one gland and parathyroid hyperplasia in another one. After surgical treatment, secondary hyperparathyroidism due to 25-OH Vitamin D deficiency appeared. To our knowledge, this is the first case in which a Vitamin D absorption deficit was found in presence of hyperthyroidism and hyperparathyroidism without other intestinal absorption deficits. Diagnostic and follow-up difficulties related to these three concomitant pathological conditions are discussed.

[Post-traumatic anosmia: description of a clinical case, proposal of a standardized protocol and medico-legal comments]. / Anosmia post-traumatica: descrizione di un caso clinico, proposta di un iter valutativo standardizzato e considerazioni medico-legali.

Man's olfactory perception is considerably limited compared to that of other animals; this sense is, however, extremely important in our social lives: it helps us to "savour" our food, it enables us to appreciate perfumes and, even more important, to pick up smells that signal a danger, such as a gas leak or a fire. We describe the clinical case of a patient with anosmia and hypogeusia that appeared immediately after suffering a concussive head injury. We go through the diagnostic protocol for medico-legal assessment of hypoanosmias previously described in the literature, which includes a clinical and an imaging section. In 9% of all anosmic patients, a traumatic event precedes the onset of the disorder, with repercussions on the olfactory channels and centres of the peripherical and/or central nervous system. The overall rate of anosmia following head injury is estimated to be around 7.5%. Among the principal causes of anosmia, those of medico-legal interest constitute 35% of the total. On the basis of our personal experience and of clinical studies conducted by other Authors, we propose that a bioptic investigation of the olfactory mucosa be added to the existing protocol. The olfactory neuroepithelium of patients suffering from post-traumatic anosmia, in fact, evidences some characteristic degenerative aspects. In conclusion, we report several comments regarding the quantification of the reduction of the olfactory function in different areas of medico-legal interest.

Treatment of hyperacusis in Williams syndrome with bilateral conductive hearing loss.

Williams syndrome (WS) is a rather rare congenital disorder characterised by a series of cardiovascular, maxillo-facial and skeletal abnormalities. It sometimes displays otorhinolaryngological symptoms because of the relatively high incidence of secretory otitis media and hyperacusis, which may be present in up to 95% of patients. The present paper describes a case of WS associated with bilateral conductive hearing loss which was not related to secretory otitis media. Hyperacusis was, moreover, present in spite of the conductive deafness. Surgical or prosthetic treatment of hearing loss was delayed because of hyperacusis. Treatment of the hyperacusis by acoustic training, instead, yielded excellent, long-lasting remission of the symptoms.

[Unusual radiological findings in combined laryngeal mucocele]. / Aspetti radiologici peculiari in un caso di mucocele laringeo misto.

In laryngeal mucocele, Morgagni's ventricle fills with mucous resulting from proliferation of the innner glandular epithelium and simultaneous closure of the ventricular opening. In making a diagnosis, the physician must first rule out any underlying neoplasm in Morgagni's ventricle which would give rise to a secondary mucocele. The present work reports a clinical case which came under observation because of cough, dysphonia and swelling of the left ventricular band with normal motility of the true vocal cords. CT of the neck, performed with contrast medium and axial scanning, showed a solid neoformation starting from the left laryngeal ventricle; densitometry proved moderately non homogeneous and showed radiological signs of hypervascularization. On the basis of these data the patient underwent direct bioptic laryngoscopy. During the beginning of the endoscopic maneuver, the pressure exerted by the stiff laryngoscope forced out dense, sticky mucous-like material and caused the laryngeal ventricle to collapse. Subsequently, multiple bioptic samples were taken from the walls and floor of the ventricle. The histological and microbiological examination confirmed the diagnosis of laryngeal mucocele. Six months later the laryngoscopic picture was nearly normal. In the years since computerized tomography came into clinical practice, diagnosis of this pathology has become easier and quicker Computerized tomography provides radiological indication of benignness which is certainly valid for laryngocele, a tumefaction containing air and which is therefore clearly differentiated from the radiodensity of the surrounding tissues. Vice versa, the homogeneous mucous content of the laryngeal mucocele can be altered by bacterial proliferation and may not show up on the CT as a uniformly hypodense area. Phlogosis due to the presence of colonies of bacteria can lead to greater blood flow in the ventricular site, thus making it impossible to distinguish the hyperdense boundary surrounding the hypodense mass. This, in turn, creates a blurry, ambiguous area of hyperdensity typical of increased vascularization. The rarity of the lesion, the relative likelihood of a simultaneous neoplasm and the ambiguousness of the clinical diagnostic elements available justify the use of preliminary bioptic microlaryngoscopy before surgically treating laryngeal mucocele.

[Human olfactory mucosa biopsy with endoscopic technique: clinical and structural observations on neurosensory epithelium rearrangement]. / Biopsia di mucosa olfattiva con tecnica endoscopica: rilievi clinici e osservazioni strutturali sul rinnovamento tissutale.

Optical and electron microscopy have been widely used to study the structural features of olfactory epithelium in several Vertebrate species. To date, however, understanding of histopathological alterations in the human olfactory neuroepithelium has been quite limited due to the difficulty in obtaining well preserved, intact fragments of mucosa. The recent introduction of endoscopic biopsy techniques has made it possible to analyze this epithelium in greater detail. In the present work, endoscopic biopsy has been performed on samples from 10 rhinologically healthy subjects. The technique used proved quite simple and did not present any risks or complications. Moreover, all samples were well preserved, as confirmed by histology. In addition, the histological pictures suggest that normal rearrangement of neuroepithelium is not an uniform process but takes place following a zone pattern with distinct dynamics between neurosensorial and support cells. Greater diffusion of this technique would not only make it possible to use different techniques to gain more detailed knowledge of tissue structure, ultrastructure and dynamics in human neuroepithelium, but it would also provide improved diagnostic and forensic evaluation in cases of anosmia, disosmia and hyposmia.

Laryngeal leiomyosarcoma.

We report one case of leiomyosarcoma (LMS) of the larynx occurring in a patient with a history of immunosuppressive therapy, and offer a critical review of the literature. Epstein-Barr virus (EBV) genome was not identified in the neoplastic cells. The patient was treated with endoscopic resection and post-operative radiotherapy. Lung metastasis and thyroid infiltration became evident 14 months following treatment despite the absence of laryngeal recurrence. Progressive decline occurred and the patient died 15 months after diagnosis.