Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural development.

UNLABELLED: Recently, vestibular anomalies have been described as a frequent feature in children with coloboma-heart-atresia-retarded-genital-ear (CHARGE) syndrome. They are likely to play an important role in the psychomotor retardation affecting these children. In order to test this hypothesis, we prospectively performed complete vestibular investigations in a series of 17 CHARGE syndrome patients including inner ear CT scan and functional vestibular evaluation of both canal and otolith functions. These results were correlated with the postural anomalies observed during the children's development and showed that vestibular dysfunction is a constant feature in CHARGE syndrome and has very good sensitivity for confirming the diagnosis. Anomalies of semicircular canals were frequently found (94%), easily detectable on CT scan and associated with no response on canal function evaluation. They were considered as partly responsible for the retardation of postural stages. Vestibular functional tests were consistently abnormal but allowed detection of residual otolith function in most patients (94%). All children of this series had an atypical pattern of postural behaviour that we consider to be related to their vestibular anomalies. Residual otolith function seems to have a positive influence for postural development. CONCLUSION: Vestibular investigations are valuable for diagnosis, developmental assessment, and adaptation of specific rehabilitation programmes in CHARGE syndrome patients.

[Evaluation of the hypothalamo-hypopituitary axis after long-term inhalation corticotherapy for nasal polyposis]. / Evaluation de l'axe hypothalamo-hypophysaire après corticothérapie inhalée de longue durée pour polypose naso-sinusienne.

OBJECTIVE: To assess the hypothalamic-pituitary-adrenal (HPA) axis after long-term intranasal corticosteroid treatment in nasal polyposis. PATIENTS AND METHODS: A short synacthen test was performed in 24 patients who received the highest dose of inhaled beclomethasone among a population of 392 patients treated for nasal polyposis with inhaled corticosteroid therapy and short-term oral corticosteroids. RESULTS: Mean yearly dose of oral prednisone administered in short-term treatment was 371 mg/year. The amount of short-term oral prednisone decreased during the treatment. Mean daily dose of inhaled beclomethasone was 2861 micrograms/day, decreasing during treatment. Morning plasma cortisol was normal in all patients before and after stimulation (163 +/- 44 and 1 +/- 60 micrograms/ml respectively). Nolomethasone dose and plasma cortisol level before or after stimulation. DISCUSSION: The high dose of inhaled beclomethasone used to treat nasal polyposis does not affect the HPA axis. Some authors in the literature contest the validity of short synacthen test to detect HPA axis suppression. This test does however detect severe impairments of the HPA axis in outpatients.

[Inner ear in C.H.A.R.G.E. association]. / L'oreille interne dans l'association C.H.A.R.G.E.

Cochleovestibular dysfunction is one of the major features of C.H.A. R.G.E. association. The inner ear anomalies were studied in a population of 17 children with CHARGE. Temporal bone anomalies were defined with CT scan, hearing loss was evaluated with audiologic procedures appropriate for age, and functional canal and otolith vestibular impairment evaluated with respectively vertical and off vertical axis rotation (OVAR) tests. Temporal bone anomalies appear specific of C.H.A.R.G.E. association. They are characterized by an aplasia of the posterior labyrinth (with an absence of semicircular canals) and a variable degree of anomalies of the anterior labyrinth with sometimes normal cochlea. Hearing loss is variable, often worsened by delayed neurological maturity and frequent association of middle ear effusion. Thus, multiple audiologic evaluations are required at regular intervals. The treatment of middle ear effusion, the association of hearing aid and speech therapy management permit language acquisition in spite of the other multiple sensory handicaps. Vestibular functional evaluation shows a constant canal areflexia but a residual vestibular otolith function (sometimes normal). The deficit of the vestibular function is certainly involved in the delay of posturo-motor development as well as visual deficit and neurological impairment. This can permit an adaption of the physical therapy program for each child to make use of the available sensorial information.

Vestibular function in children with the CHARGE association.

BACKGROUND: Histopathological examinations and computed tomographic scans of the temporal bone in patients with the CHARGE association (a malformative syndrome that includes coloboma, heart disease, choanal atresia, retarded development, genital hypoplasia, and ear anomalies, including hypoplasia of the external ear and hearing loss) have shown an absence of semicircular canals and a Mondini form of cochlear dysplasia. Until recently, no information was available concerning a possible loss of vestibular function, which could be a factor in retarded posturomotor development. To our knowledge, this is the first report of otolith tests done on patients with the CHARGE association. OBJECTIVE: To test residual vestibular function in patients with the CHARGE association. STUDY DESIGN: In 7 patients with the CHARGE association, we made electro-oculographic recordings of vestibulo-ocular responses to earth-vertical and off-vertical axis rotations to evaluate the function of the canal and the otolith-vestibular systems. RESULTS: None of the 7 patients had semicircular canals in the computed tomographic scan, and none had canal vestibulo-ocular responses to earth-vertical axis rotation, but all had normal otolith vestibulo-ocular responses to the off-vertical axis rotation test. CONCLUSIONS: These results support the hypothesis of a residual functional otolith organ in the hypoplastic posterior labyrinth of children with the CHARGE association. The severe delays in psychomotor development presented by these children are more likely a consequence of multiple factors: canal vestibular deficit, visual impairment, and environmental conditions (long hospital stays and breathing and feeding problems). The remaining sensitivity of the otolith system to gravity and linear acceleration forces in these children could be exploited in early education programs to improve their posturomotor development.

[Sebaceous carcinoma of the parotid gland]. / Carcinome sébacé de la parotide.

Sebaceous carcinoma is a rare tumor, from the adnexal epithélium of the sebaceous glands. Usually, lesions arise in meibonian glands of the eyelid. However, extraocular lesions within head and neck have been reported. We report a case of recurrent sebaceous carcinoma of the parotid gland without metastases.

[Treatment of nasal obstruction with subtotal inferior turbinectomy in chronic rhinitis: a retrospective study on 50 patients]. / Le traitement de l'obstruction nasale par turbinectomie inférieure sub-totale dans les rhinites chroniques. Etude rétrospective à propos de 50 cas.

Between January 1993 and September 1996, 50 patients underwent isolated subtotal turbinectomy (without associated septal intervention). This retrospective study analyzes the short and long-term subjective results after a mean 24-month follow-up. Surgery was successful in 80% of cases yielding good nasal repermeabilization. Rhinorrhea and post nasal drip were improved in 30% of cases. Facial pains and hyposmia were improved in 71% and 89% respectively. No cases of crusting rhinitis were observed. Subtotal inferior turbinectomy, although it has raised some controversy, is the treatment of choice for the patients suffering from chronic rhinitis related to hypertrophy of the inferior nasal conchae resistant to medical treatment.

Primary T-cell non-Hodgkin lymphoma of the larynx with subsequent cutaneous involvement.

BACKGROUND: T lymphocytes expressing the gammadelta T-cell receptor represent a minority of normal T lymphocytes and are mostly located in the spleen or mucosa. Lymphomas expressing the gammadelta T-cell receptor are rare and usually present as hepatosplenic (negative for Epstein-Barr virus) disease. Primary lymphomas of the larynx are also rare. OBJECTIVE: To report the first case of primary laryngeal gammadelta T-cell lymphoma related to Epstein-Barr virus infection. DESIGN: Single-case study, including clinical, histological, immunohistochemical, and ultrastructural analysis, and in situ hybridization for Epstein-Barr virus-encoded small nuclear RNA. PATIENT: An 88-year-old man presenting with a 6-month history of a cough followed by progressive dysphonia and a thickening of the left aspect of the aryepiglottic fold. INTERVENTION: Two weeks of treatment with corticosteroids and antibiotics, followed by radiotherapy and then chemotherapy with chlorambucil and corticosteroids. OUTCOME: The patient died of heart failure 10 months after the onset of the disease. RESULTS: The tumor was laryngeal and disseminated to the skin over the parotid gland. Tumor cells were medium-sized T cells of cytotoxic immunophenotype, expressed the gammadelta T-cell receptor, and contained azurophilic granules and cytotoxiclike granules detected on electron microscopy. Epstein-Barr virus-encoded small nuclear RNA was detected in most tumor cells. CONCLUSIONS: Lymphomas with a T-cell cytotoxic phenotype expressing the gammadelta T-cell receptor are rare, and this case appears to be the first to involve the larynx. The association between Epstein-Barr virus and T-cell lymphomas has been shown to be frequent in the upper respiratory tract and is confirmed in this case. This finding suggests that T cells in the upper respiratory tract may be more exposed to Epstein-Barr virus infections, perhaps because of their anatomical location.

[Acute epiglottitis in adults. A series of 41 cases]. / Epiglottite aiguë de l'adulte. Une série de 41 cas.

Acute epiglottis is not strictly a childhood disease. We report our experience with acute epiglottis in adults with a retrospective series of 41 patients seen from 1986 to 1994. The main complaint was painful dysphagia. The diagnosis was confirmed a examination of the larynx. Therapeutic management in a hospital setting is required due to the risk of ventilatory obstruction (therapy to be adapted to the patient's ventilatory status).