Cochleovestibular manifestations in Fabry disease: Importance of screening and systematic ENT evaluation.

OBJECTIVES: Fabry disease (FD) is an X-linked inherited lysosomal storage disease. It is a multisystem pathology that can include ENT disorders. The aim of the present study was to investigate the cochleovestibular manifestations of FD, in order to show the importance of screening and systematic ENT evaluation. MATERIAL AND METHODS: A single-center retrospective study included 14 male and 23 female FD patients. Hearing impairment was defined as hearing loss greater than the 90th percentile for at least one frequency. Vestibular impairment was defined by lateral semicircular canal dysfunction. Age, ongoing enzyme replacement therapy (ERT) and organic (renal, cardiac and cerebrovascular) complications were used as severity markers. RESULTS: Hearing impairment was found in 62.6% of cases, mostly at high frequencies, and was associated with age, ERT, and cardiac and cerebrovascular disorder. It affected 46.7% of asymptomatic adult patients. Vestibular impairment was found in 56% of cases, associated with age; it affected two-thirds of ERT patients, more than 60% of patients with organic complications, and 50% of asymptomatic adult patients. CONCLUSIONS: More than half of patients had ENT involvement. All FD patients should undergo early ENT screening for diagnostic, prognostic and therapeutic purposes. Systematic complete ENT follow-up with auditory and vestibular evaluation should be performed regularly, even for heterozygous women.

Well-differentiated, pedunculated liposarcoma of the hypopharynx.

INTRODUCTION: Liposarcoma of the hypopharynx is extremely rare, as only 28 cases have been reported in the literature. The cardinal symptom of liposarcoma is progressively worsening dysphagia. CASE REPORT: The authors report the case of a 71-year-old man who presented with dysphagia, marked weight loss over several weeks and an episode of exteriorization of a solid mass from the mouth during an episode of vomiting. Imaging revealed a fat density intra-oesophageal mass. Panendoscopy and upper gastrointestinal endoscopy visualized the pedunculated tumour in the left piriform sinus, which was able to be exteriorized via the mouth. The tumour was then resected endoscopically at its hypopharyngeal insertion pedicle. Histological examination of the operative specimen concluded on well-differentiated benign liposarcoma. DISCUSSION: Well-differentiated liposarcoma is the most common form of liposarcoma, but is only exceptionally reported in the hypopharynx. The main symptoms are related to compression of adjacent structures. Imaging findings are nonspecific. Only histological examination can distinguish liposarcoma from other benign oesophageal tumours. Standard treatment consists of wide, complete resection, which is not always possible in the neck. Long-term follow-up of these patients is essential in order to rapidly detect recurrence.

Right ethmoid eosinophilic angiocentric fibrosis with orbital extension.

INTRODUCTION: Eosinophilic angiocentric fibrosis (EAF) is a slowly progressive, benign disease involving the mucosa of the upper airways or, more rarely, the orbit. It belongs to the spectrum of IgG4-related disease. CASE REPORT: The authors report the case of a 61-year-old man who presented with orbital involvement (visual loss, pain, proptosis, and eyelid oedema), headache and nasal obstruction. Imaging revealed a right ethmoido-orbital mass infiltrating the periorbital fat and enveloping the optic nerve. Histological examination concluded on a diagnosis of EAF in the presence of perivascular infiltration by inflammatory cells, predominantly eosinophils, and zones of "onion skin" fibrosis. Immunohistochemistry attributed these lesions to IgG4-related disease. Initial treatment with corticosteroids followed by dapsone failed to control the disease and resulted in severe steroid dependence. Surgical ethmoidectomy with resection of the lamina papyracea was performed to allow displacement of the eyeball into the nasal cavity in the event of another episode. DISCUSSION: The combination of surgery and rituximab achieved lasting pain relief with no recurrence of exophthalmos.

[Surgical treatement by intracapsular enucleation of cervical peripheral neural sheath tumors]. / Traitement chirurgical des tumeurs nerveuses périphériques bénignes cervicales par exérèse intracapsulaire.

Schwannomas and neurofibromas are benign tumors of the peripheral neural sheath tumors (PNST), representing 5% of soft tissue tumors. Cervical PNST are mainly located on the vagus nerve or in the sympathetic nervous system. The treatment is based on a tumor resection with preservation of nerve function. Classical surgery consists in total tumor removal after dissection of the nerve and is frequently complicated by nerve paralysis. The authors describe a simpler surgical technique consisting in a resection of the intracapsular enucleation of PNST that can limit the risk of nerve injury without increasing recidivism. The description of this surgical technique is illustrated by its use in a type I neurofibromatosis patient with a large vagal nerve neurofibroma.