Rémi Marianowski

Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome

The acronym CHARGE defines a non-random clustering of congenital malformations of unknown origin. Classical diagnostic criteria include: 1) one major feature namely coloboma/microphthalmia or choanal atresia, and 2) four of the six features designated in the CHARGE acronym. Interestingly, all CHARGE patients hitherto reported had partial or complete semicircular canal hypoplasia on temporal bone CT-scan. We report on semicircular canal agenesis/hypoplasia in three patients with three to four features of the CHARGE syndrome and neither coloboma nor choanal atresia and we propose to include temporal bone malformations as a major criteria for diagnosis of CHARGE syndrome.

Transnasal endoscopic removal of an orbital cavernoma

The approach to posterior and medial orbital tumors is still a challenge, since poor functional results are frequent. We report a case of cavernoma successfully removed by a modified transnasal endoscopic procedure. The patient, a 56-year-old woman, complained of a decrease in vision of the left eye. Magnetic resonance imaging evidenced a lesion in the posterior part of the orbital cavity, inferior to the optic nerve, extending to the sphenoidal cleft. The lesion was isodense on T1-weighted images and showed contrast enhancement. Because of the medial location of the tumor, the patient was referred to the otolaryngology department by the neurosurgeons, and a transnasal endoscopic approach was chosen. A large exposure of the operative field was obtained, and a cavernoma was removed. Rapid relief of the symptoms was obtained. In view of this good result, we advocate the transnasal endoscopic approach in cases of inferomedial and posterior intraconal lesions as an alternative and addition to the standard techniques of orbital surgery.

Risk factors for thyroglossal duct remnants after Sistrunk procedure in a pediatric population

To evaluate recurrence after surgery for thyroglossal duct cyst (TDC) we performed a retrospective chart review. Seventy four patients between 0.5 and 8.5 years of age presenting with a midline neck cyst underwent a Sistrunk procedure for a preoperative diagnosis of TDC. Fifty-seven had histologically confirmed TDC (mean age of the population: 4+/-1.5 years, mean follow-up: 6 years and 8 months). Recurrence occurred in 15% of the cases of histologically confirmed TDC. Four individual risk factors have been identified: number of infection before surgery [more than 2 episodes (P<0.05)]; preliminary surgical procedure (P<0.05); age [less than 2 years (P<0.05)] and multicystic lesion on histopathology (P<0.01). The two first factors being correlated, the risk of relapse might be lowered by a wide excision performed before any infection in children over 2 years.

Conservative management of Gradenigo syndrome in a child

Gradenigo syndrome consists of the association of otitis media, facial pain in regions innervated by the first and second division of trigeminal nerve and abducens nerve paralysis. It is caused by osteitis of the petrous apex (PA) and is a very rare complication of otitis media. Its treatment usually consists in mastoidectomy and antibiotics. We report a case of a 6-year-old child, which was managed medically with a positive outcome.

Expression of NMDA, AMPA and GABAA receptor subunit mRNAs in the rat auditory brainstem. I. Influence of early auditory deprivation

Impact of early post-natal deafening on auditory pathways was investigated in newborn rats deafened by daily amikacin injections from P7 to P16 inducing a complete destruction of the organ of Corti. The expression of mRNAs encoding N-methyl-D-aspartate (NMDA), alpha-amino-3-hydroxy-5-methyl-4-isoxazole (AMPA) and gamma-aminobutyric acid type A (GABA(A)) receptor subunits was then studied by in situ hybridization in the dorsal and ventral cochlear nucleus and in the central nucleus of the inferior colliculus (CNIC). Early post-natal deafening decreased bilaterally the expression of mRNAs encoding NR1, NR2a, NR2b and flop isoforms of AMPA receptors. On the contrary, it increased the expression of mRNAs encoding some GABA(A) subunits (alpha1, beta1, gamma2) and flip isoforms of AMPA receptors. These changes were more pronounced in cochlear nuclei than in CNIC. They suggest that auditory sensation is essential in the normal development of central auditory pathways.

Mucocele of the Sphenoid Sinus: A Late Complication of Transsphenoidal Pituitary Surgery

In an 18-month period, 3 cases of sphenoidal mucocele following pituitary surgery were diagnosed at our institution. Only 1 case of this late-onset disorder has yet been reported as a pitfall of the transsphenoidal route. Symptoms include recurrent headache and visual complications. Diagnosis was delayed because of misinterpretation of the magnetic resonance imaging findings, which actually showed the development of a sphenoid mucocele long before clinical symptoms occurred. These 3 cases suggest that attention should be focused not only on the sella turcica, but also on the sphenoid sinus, in analyzing the magnetic resonance imaging data. The treatment consists of endoscopic transnasal marsupialization, since the mucocele is lined by normal epithelium with an inflammatory reaction that will heal with drainage. At the time of surgery, prevention would require either endoscopic control of the mucosal remnants, in case of sinus exclusion, or leaving the sphenoid sinus air-filled under a sealed sella.

Respiratory obstruction as a sign of brainstem dysfunction in infants with Chiari malformations.

Laryngeal respiratory obstruction associated with Chiari malformations was first described in 1932. We studied this type of obstruction in six children with one or several disorders pointing to brainstem dysfunction (failure to thrive, velopharyngeal incompetence, gastroesophageal reflux, or vagal hypertonia). The nature of the laryngeal obstruction was highly variable (vocal cord paralysis, paradoxical vocal cord motion, laryngomalacia) as were the frequency and severity of associated disorders. Chiari malformations should be routinely sought in a child with laryngeal respiratory obstruction occurring at birth or later, whatever the endoscopic diagnosis, especially when signs of brainstem dysfunction are present. The best tool for diagnosing the Chiari malformation is T1- and T2-weighted MRI. Signs of brainstem dysfunction must be treated symptomatically, before treating Chiari malformations by decompressive surgery. This latter approach led to full functional recovery in all five children who underwent the procedure. Palliative surgical treatment should be reserved for patients in whom this procedure is unsuccessful.

Modulation of cyclic AMP production by strial marginal cells from gerbil in culture.

To further investigate the role of marginal cells (MCs) in the secretion of endolymph and because of the limitations encountered in investigating these cells in vivo, we used primary cultures of MCs derived from explants of gerbil stria vascularis and investigated modulation of the adenylate cyclase-cyclic AMP system. After 10 days on type I collagen coated plastic dishes, a confluent monolayer of epithelial-like cells was obtained which exhibited the morphologic and immunohistochemical features of the native marginal cells. The cyclic AMP (cAMP) content was determined at 37 degrees C, after 5 min of incubation with various agents, in the presence of a specific inhibitor of type III cAMP-dependent phosphodiesterase, RO 20-1724. The adenylate cyclase-cAMP system was associated with beta 2-adrenergic receptors. The cAMP content was increased by isoproterenol (23-fold), a beta-agonist, but not by octopamine, an alpha-agonist, and the affinity for ICI 118.551, a specific beta 2-antagonist, was greater than for CGP 20712A, a specific beta 1-antagonist (Kd: 0.03 x 10(-6) M and 15 x 10(-6) M respectively). The cAMP content was maximally increased by prostaglandin E2 > beta 2-adrenergic agonist >> vasopressine type 2 receptor agonist (26-, 23-, and 3-fold the basal cAMP content, respectively). The present study demonstrates that cultured marginal cells retain some of their in vivo properties including a modulated enzymatic cAMP system. This culture model should allow further in-depth investigation of the function of marginal cells.

Expression of NMDA, AMPA and GABAA receptor subunit mRNAs in the rat auditory brainstem. II. Influence of intracochlear electrical stimulation

We investigated the effects of intracochlear electrical stimulation (ICES) on auditory pathways of neonatal rat deafened by daily amikacin injections. Expression of mRNAs encoding ionotropic glutamate receptor subunits such as alpha-amino-3-hydroxy-5-methyl-4-isoxazole (AMPA) and N-methyl-D-aspartate (NMDA), and gamma-aminobutyric acid type A (GABA(A)) receptor subunits was assessed by in situ hybridization in the dorsal (DCN) and the ventral cochlear nucleus (VCN) and in the central nucleus of the inferior colliculus (CNIC). After 15 days of daily unilateral ICES, the expressions of NR1, NR2b and NR2c subunits of NMDA receptor, that of GluRA, B, C, D flop isoforms of AMPA receptor and that of some GABA(A) subunits (alpha1, beta1, gamma1, gamma2) were increased bilaterally in the DCN, VCN and the CNIC. These changes last over a week after stimulation for only NR1 and NR2c. These modifications might be related to long lasting synaptic plasticity of brainstem auditory pathways. As far as analogy to deaf children can be made, early electrical stimulation might be of interest to maintain neuronal networks.

Nasal haemangiopericytoma : report of two cases with literature review

Haemangiopericytoma (HPC) is a rare vascular tumour produced by proliferation of pericytes. One hundred and thirty-three cases of HPC have been reported in the nose and the paranasal sinuses. We present two more cases. Wide surgical excision via lateral rhinotomy, midfacial degloving, or endonasal removal is the treatment of choice. Radiotherapy has been used post-operatively in cases of incomplete removal. Life-long follow-up is required to evaluate local recurrence and late metastases.