E.N. Garabédian

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.

Perrault syndrome (PS) is a rare autosomal recessive condition characterized by deafness and gonadic dysgenesis. Recently, mutations in five genes have been identified: C10orf2, CLPP, HARS2, HSD17B4, and LARS2. Probands included are presented with sensorineural deafness associated with gonadic dysgenesis. DNA was sequenced using next‐generation sequencing (NGS) with a panel of 35 deafness genes including the five Perrault genes. Exonic variations known as pathogenic mutations or detected with <1% frequency in public databases were extracted and subjected to segregation analysis within each family. Both mutations and low coverage regions were analyzed by Sanger sequencing. Fourteen female index patients were included. The screening in four cases has been extended to four family members presenting with PS phenotype. For four unrelated patients (28.6%), causative mutations were identified: three homozygous mutations in C10orf2, CLPP, and HARS2, and one compound heterozygous mutation in LARS2. Three additional heterozygous mutations in LARS2 and HSD17B4 were found in three independent familial cases. All these missense mutations were verified by Sanger sequencing. Familial segregation analyses confirmed the molecular diagnosis in all cases carrying biallelic mutations. Because of NGS, molecular analysis confirmed the clinical diagnosis of PS in 28.6% of our cohort and four novel mutations were found in four Perrault genes. For the unsolved cases, exome sequencing should be performed to search for a sixth unknown PS gene.

Mastoid fascia kite flap for cryptotia correction

OBJECTIVE Cryptotia is one of the most common malformations of the upper auricle with aesthetic and functional consequences, however there is no standard treatment. We present the surgical technique and results of a kite flap procedure which can be used in the different cryptotia subtypes. METHODS We reviewed all patients treated in our department from 2010 to 2015, using a mastoid fascia kite flap technique. The incision of this local flap follows the retro-auricular sulcus along the rim of the helix superiorly and drawing a skin paddle inferiorly. The mastoid fascia is exposed and a superiorly and posteriorly based flap is drawn and detached from the skull. Finally, the skin paddle is rotated and sutured between the superior helix and temporal skin creating the superior sulcus. The retro-auricular incision is closed directly inferiorly. RESULTS Six patients (mean age 12) and seven ears were studied. One patient had bilateral cryptotia and only two had a normal contralateral ear. Mean follow-up was of 45 months. There was no skin necrosis, no complications reported and no revision surgery. CONCLUSIONS We describe a reliable flap with a simple design and improved aesthetic result, as the thickness of the flap projects the helix well, the scar is entirely hidden in the retro-auricular sulcus and the direct suture induces a harmonious medialization of the inferior part of the ear and earlobe.

Newborn hearing screening: Prevalence and medical and paramedical treatment of bilateral hearing loss in a neonatal series in the Île-de-France region of France

OBJECTIVES We report results for newborn hearing screening in a cohort of children born in the Île-de-France region of France, as part of a national screening program set up by the French national health insurance agency. MATERIALS AND METHODS A prospective study was performed on neonates undergoing hearing screening by automated auditory brainstem response at 35 dB in maternity departments between 2005 and 2011. In case of positive findings, a further check was performed; if this was also positive in one or both ears, the child was referred to the diagnostic center. RESULTS The study recruited 27,885 births; 96% of neonates were tested. Retest was positive in 0.84% of cases. Bilateral hearing loss was diagnosed in 0.63% of infants. Fifty-nine percent of these had ≥ 1 risk factor. Hearing normalized by end of follow-up in 25% of cases. Hearing loss was moderate in 59% of hearing-impaired children, severe in 12% and profound in 29%. Mean age at hearing aid fitting ranged from 4 months in profound hearing loss to 11.4 months in moderate hearing loss. In children receiving a cochlear implant, mean age at implantation was 14 months. CONCLUSION Newborn hearing screening is now public policy. It is effective in terms of exhaustiveness, age at diagnosis and early management. Caution is appropriate in the treatment of moderate hearing loss. In case of moderate hearing loss associated with otitis media serosa, transtympanic aerators should be suggested as of the age of 6 months to enable hearing threshold measurement. Hearing aid fitting can then be considered around 9 months of age if hearing has not improved.

How I do it Cochlear implantation and magnet removal: A silicone mold to maintain the transmitter coil

G. was diagnosed with bilateral profound deafness and had homozygous mutation of connexine 26. He received a left cochlear implant (CI24 M Cochlear) in 2001 at 4 years old. Because of severe and constant pain on the left side, he was explanted in March 2008 and was right side implanted in September 2008 (CI24RE Cochlear). In November 2010, right sided-headaches and pain developed around the implant location, associated with fainting spells that would increase when the transmitter coil was touching the inner magnet. The implant could no longer be used. Skin and soft tissue were normal, cerebral CT scan was normal as well. The auditory tests were good. No etiology was found in cutaneous allergy tests, blood tests, and vertebral column radiographies studies. Psychological support did not improved symptoms. As a matter of fact, all attempts to bring the magnet at a short distance from the device raised again the pain. Because of the boy’s desire to wear his implant again, we decided to surgically take the magnet out. After surgery, pain and headaches completely resolved and the boy wore his implant again. With the retainer disk proposed by Cochlear (Fig. 1), his transmitter coil fell all the time. As the boy had a very short haircut, the idea was to maintain the transmitter coil on the skull with a larger sticking surface. We decided to use a new mold. Using the

Cas clinique aux expertsL’angiome sous-glottique du nourrissonSubglottic hemangioma in the infant☆

Subglottic hemangioma in the infant E.N. Garabédian , Y. Manac’h , T. Van Den Abbeele , R. Nicollas , Françoise Denoyelle * a Service d’ORL pédiatrique, hôpital d’enfants Armand-Trousseau, 26, avenue du Dr-Arnold-Netter, 75012 Paris, France b Service d’ORL pédiatrique, hôpital Necker–Enfants-Malades, 149–161, rue de Sèvres, 75743 Paris cedex 15, France c Service d’ORL pédiatrique, hôpital Robert-Debré, 48, boulevard Serrurier, 75019 Paris, France d Service d’ORL pédiatrique, hôpital d’enfants de La Timone, boulevard Jean-Moulin, 13005 Marseille, France

L’angiome sous-glottique du nourrisson ☆

Subglottic hemangioma in the infant E.N. Garabédian , Y. Manac’h , T. Van Den Abbeele , R. Nicollas , Françoise Denoyelle * a Service d’ORL pédiatrique, hôpital d’enfants Armand-Trousseau, 26, avenue du Dr-Arnold-Netter, 75012 Paris, France b Service d’ORL pédiatrique, hôpital Necker–Enfants-Malades, 149–161, rue de Sèvres, 75743 Paris cedex 15, France c Service d’ORL pédiatrique, hôpital Robert-Debré, 48, boulevard Serrurier, 75019 Paris, France d Service d’ORL pédiatrique, hôpital d’enfants de La Timone, boulevard Jean-Moulin, 13005 Marseille, France

Atypical failure after cochlear implantation in children

We report a case of intermittent dysfunction in a 10-years-old boy, implanted with MedEL(®) cochlear implant. Few weeks after the surgery the boy described short and intermittent episodes of implant dysfunction with rapid return to a normal function. No evidence for any electric or neural dysfunction was found. After few weeks, a clinical link was discovered to episodes of sneeze or nose blowing. Clinical and surgical implications are discussed.

Canalplasty for congenital atresia of the external auditory canal

Canalplasty for congenital atresia of the external auditory canal is associated with a high postoperative stenosis rate in the literature. The authors describe an original surgical and stenting technique that has been used systematically since 2000 in the paediatric otolaryngology department of Trousseau hospital in Paris. After minimal endaural canalplasty, possibly combined with lining of the external auditory canal by skin graft, a stent is sutured to the opening of the ear canal and left in place for 4 weeks. This stenting technique can be used for a shorter duration after tympanoplasty in children with behavioural disorders.