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There is a gap in clinical knowledge regarding associations between specific inborn errors of immunity (IEIs) and rheumatologic diseases. This study reports the frequency of rheumatologic conditions in a large cohort of patients with IEI using the USIDNET (United States Immunodeficiency Network) registry. We used the USIDNET registry to conduct the analysis. We included all IEI patients within the registry for whom a diagnosed rheumatologic disease was reported. The total number of patients with IEI in our query was 5058. Among those, 278 (5.49%) patients had a diagnosis of rheumatologic disease. This cohort included 172 (61.8%) female and 106 (38.2%) male patients. Rheumatologic complications were highest in the interferonopathies (66.6%), autoimmune lymphoproliferative syndrome (ALPS) (13.7%), and immunoglobulin G subclass deficiency (IgGSD) (11.11%). Additionally, disease patterns were noted to be different in various IEI disease groups. Inflammatory myopathies were the most common rheumatologic condition in patients with X-linked agammaglobulinemia (1.65%), Sjogren's syndrome was the most common rheumatologic disease reported in ALPS patients (6.85%), and systemic lupus erythematosus was the most common rheumatologic disease in patients with chronic mucocutaneous candidiasis (CMC) (7.41%). Rheumatoid arthritis (RA) report rate was highest in patients with IgGSD (3.70%), specific antibody deficiency (SAD) (3.66%), and ALPS (2.74%). This study reports that rheumatologic diseases are frequently observed in patients with IEI. The frequency of different rheumatologic conditions was variable based on the underlying diagnosis. Clinicians caring for patients with IEI should be vigilant to monitor for rheumatologic complications. Key Points • The rates of reported rheumatologic diseases in the USIDNET registry are different in individual IEIs. • Further studies are needed to guide clinicians for detecting rheumatologic conditions earlier in patients with IEI.

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BACKGROUND: First branchial cleft anomalies are rare, accounting for only 10% of all branchial cleft anomalies. We report an even more rare and unique case of a branchial cleft cyst with features of both first and second arch derivatives. CASE PRESENTATION: A 6-year-old boy presented to us with a left conductive hearing loss associated with pre-tympanic keratin debris and an ipsilateral painful cervical mass. He had a past medical history of left ear surgery for presumed cholesteatoma 2 years prior and left neck abscess drainage 6 months prior. CT and MRI revealed a lesion originating in the external auditory canal and extending cervically through a bony canal located medial to the facial nerve and terminating as a parapharyngeal cyst. The complete removal was accomplished in one surgical stage consisting of three distinct steps: robotic assisted transoral resection of the pharyngeal cyst, an endaural approach and a parotidectomy approach. CONCLUSION: We believe that our detailed description of this rare first branchial cleft cyst with pharyngeal extension, possibly a hybrid case between a first and second branchial cyst, can serve as a valuable tool to Otolaryngologists - Head and Neck Surgeons who come across a similar unusual presentations.

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OBJECTIVES: To study recent cases of esophageal injury due to button-battery ingestion in children presenting in pediatric ENT emergency departments of the Paris area of France (Île-de-France region), in order to propose appropriate preventive measures. MATERIAL AND METHOD: A retrospective descriptive single-center study included all children under 15 years of age, presenting in pediatric ENT emergency departments between January 2008 and April 2014 for button-battery ingestion with esophageal impaction requiring emergency removal. RESULTS: Twenty-two boys and 4 girls, with a median age of 25 months, were included. Twenty-five of the 26 batteries had diameters of 20mm or more. Median esophageal impaction time was 7 hours 30 minutes (range, 2 to 72 hours). The complications rate was 23%. Mean hospital stay cost was €38,751 (range, €5130-119,737). The origin of the battery was known in 23 of the 26 cases: remote control without screw-secured compartment (42.3%), open battery pack (15.4%), children's toy (15.3%), camera (7.7%), watch (1 case) and hearing aid without screw-secured compartment (1 case). CONCLUSION: Esophageal lesions due to ingestion of button-batteries in children are almost always due to batteries larger than 20mm in diameter, mostly from devices with a poorly protected compartment, or batteries that are not individually packaged. These lesions cause serious complications in a quarter of cases and their management entails high health costs. Legislation requiring screw-secured compartments and individual blisters for batteries could have prevented 69.2% of the ingestions.

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INTRODUCTION: Rhabdomyosarcoma (RMS) is the most frequent soft-tissue sarcoma in children and makes up 5% of all pediatric malignant tumors. The main head and neck locations are the base of the skull, nasopharynx, nasal cavity and orbit. An outer ear location is considered extremely rare. We present 3 cases of children, aged 6 to 14 years, presenting with auricular RMS. CASE REPORTS: The first child, aged 6, was managed by 4 chemotherapy cycles followed by surgical resection of the tumor bed, completed by 5 further cycles of chemotherapy. The second, aged 14, was managed by 4 chemotherapy cycles followed by external radiation therapy of the tumor bed and lymph node areas, completed by 5 further cycles of chemotherapy. The third, aged 13, was managed by 4 chemotherapy cycles followed by surgery, completed by 5 further cycles of chemotherapy. DISCUSSION: In these 3 patients, the treatment program achieved complete disease control. Prognosis was good, thanks to good surgical access. Diagnosis should be considered in case of unusual progressive swelling in the outer ear.

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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.

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OBJECTIVE: To analyze speech in children with profound hearing loss following congenital cytomegalovirus (cCMV) infection with cochlear implantation (CI) before the age of 3 years. MATERIAL AND METHODS: In a cohort of 15 children with profound hearing loss, speech perception, production and intelligibility were assessed before and 3 years after CI; variables impacting results were explored. RESULTS: Post-CI, median word recognition was 74% on closed-list and 48% on open-list testing; 80% of children acquired speech production; and 60% were intelligible for all listeners or listeners attentive to lip-reading and/or aware of the child's hearing loss. Univariate analysis identified 3 variables (mean post-CI hearing threshold, bilateral vestibular areflexia, and brain abnormality on MRI) with significant negative impact on the development of speech perception, production and intelligibility. CONCLUSION: CI showed positive impact on hearing and speech in children with post-cCMV profound hearing loss. Our study demonstrated the key role of maximizing post-CI hearing gain. A few children had insufficient progress, especially in case of bilateral vestibular areflexia and/or brain abnormality on MRI. This led us to suggest that balance rehabilitation and speech therapy should be intensified in such cases.

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OBJECTIVE: To compare the residual cholesteatoma detection accuracy of diffusion-weighted (DW) and T1 delayed sequences for magnetic resonance at one year postoperative with second-look surgery in pediatric patients who have undergone primary middle ear surgery for cholesteatoma. METHODS: This was a prospective monocentric consecutive study conducted in a tertiary academic referral center. Children were referred for MR imaging (MRI) one year after surgery. A 1.5T MRI was utilized, using nonecho-planar DW images and delayed gadolinium-enhanced T1-weighted images. Accuracy of magnetic resonance imaging was assessed by two radiologists before surgery. Interobserver and intraobserver agreements were assessed using the κ test. Magnetic resonance imaging data were compared with surgery, which was considered as the gold standard. RESULTS: Twenty-four consecutive unselected pediatric patients were included. Sensitivity, specificity, positive predictive value, and negative predictive value for the first observer were of 40%, 86%, 67%, and 67%, respectively, and those for the second observer were 30%, 86%, 60%, and 63%, respectively. The only two cholesteatoma with a size superior to 3mm were diagnosed before surgery, but the majority of small cholesteatoma were not detected. CONCLUSIONS: MRI is a key examen to diagnosed the residual cholesteatoma but is limited by the size of the lesion under 3mm. Delaying the realization of MRI during follow-up could increase sensitivity, thus avoiding misdiagnosis as well as unnecessary second look surgery.

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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.

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Hearing impairment is characterized by great genetic heterogeneity. We report the identification, by whole exome sequencing, of two different nonsense mutations (c.1558C>T; p.Gln520 and c.2773C>T; p.Arg925) in the otogelin-like gene (OTOGL), in a child affected by mild to moderate isolated deafness. Parental genotypes allowed us to conclude that these mutations are present in the compound heterozygous state in the patient. In addition, our clinical data establish that the tectorial membrane and/or the outer hair cells are defective in this form of deafness.

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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.

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We report a case of unilateral mydriasis associated with sphenoid sinusitis and mucocele in a child. An 11-year-old girl with a history of unilateral mydriasis was referred for ophthalmologic examination. She complained of a mild headache over the past four days. The right pupil was dilated and nonreactive to light. The left pupil was normal and reactive. There was no ptosis or other focal neurological deficit. She was orthotropic. Visual acuity in both eyes, ocular motility and fundi were normal. Magnetic resonance imaging (MRI) showed a sphenoid sinus mucocele with sphenoiditis. The diagnosis was partial third nerve palsy without ophthalmoplegia. Treatment with antibiotics was initiated and led to complete resolution of the mydriasis. Sphenoid sinus mucoceles are relatively rare. Failure to diagnose and treat can lead to serious neurologic sequellae such as third nerve palsy, compressive optic neuropathy, cavernous sinus thrombosis, meningitis or brain abscess. Head imaging by reconstructed CT and MRI can lead to the diagnosis of mucocele. Isolated unilateral mydriasis as a sign of third nerve palsy may be caused by a slowly enlarging lesion. In a child with isolated unilateral mydriasis, head MRI should be performed to rule out a compressive lesion of the oculomotor nerve.

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Based on a review of the medical literature (PubMed database, keywords: medical information, informed consent), the authors analyse the main medicolegal aspects concerning the patient information that must be provided in France prior to any invasive diagnostic or therapeutic medical procedures in otorhinolaryngology head and neck surgery, as well as the patient's perception and recall of the information provided, the quality of the information provided and problems encountered in providing this information. In the light of this review, several solutions are recommended to improve this essential phase prior to obtaining the patient's informed consent.

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Infantile haemangioma (IH) is the most common tumour during early childhood. Although these benign lesions resolve spontaneously, up until recently laryngotracheal sites of IH required invasive management. The dramatic efficacy of ß-blockers on IH has radically changed the prognosis. Surgery is now no longer indicated as first-line therapy, but should only be performed for difficult, refractory cases, or in the presence of absolute contraindications to ß-blockers. Long-term steroid therapy is also no longer indicated. Propranolol can be used as first-line, single-agent therapy.

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INTRODUCTION: Fetal rhabdomyomas are very rare benign tumors with infrequent head and neck involvement. We present the first report of a case of a 3-year-old child with an infratemporal fossa location. MATERIAL AND METHODS: Case study. DISCUSSION: Given the volume of the tumor and its difficult-to-access location, medical treatment associating methotrexate and Velbé(R) was proposed, but was not effective on the tumor volume after four courses. Surgical intervention via a combined intraoral and preauricular temporal approach allowed monoblock excision. There were no postoperative complications. CONCLUSION: Medical treatment was unsuccessful. Surgical excision controlled the lesion with no recurrence since surgery. The main differential diagnosis is rhabdomyosarcoma.

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Although cholesteatoma was first described in 1683, its etiopathogeny remains unexplained. In children, there are two forms: acquired cholesteatoma, resembling the adult form, and congenital cholesteatoma. The acquired form has become less frequent in recent years, thanks to progress in the treatment of childhood otitic pathology. Diagnosis of congenital cholesteatoma, on the contrary, is increasing, due to improvements in information to health care professionals and in diagnostic tools. Clinical and histological evidence points to greater aggressiveness in childhood forms, although this difference cannot, at present, be precisely explained. Diagnosis is clinical, but CT and MR imaging is indispensable for preoperative assessment and postoperative follow-up. New delayed gadolinium-enhanced T1-weighted and diffusion-weighted MRI sequences have recently been developed and provide more precise radiological diagnosis. Treatment is surgical; alternatives, notably by laser, have proved unsuccessful. Complications concern involvement of neighbouring structures, and are mainly infectious; some can be life-threatening, and should be systematically screened.

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Castleman disease (CD) is a benign lymphoproliferative disorder, rare in children. Head and neck localizations are found only in 14 % of the cases. Two forms have been described: a hyaline vascular type and a plasma cell type. It can also be monocentric or multicentric. Both young patients were affected with an isolated neck localization of Castleman disease. Preoperative diagnosis can be difficult with a thymoma or a lymphoma. CT and MRI can help in the diagnosis, which is confirmed by histopathological assessment. The pathological features and the therapeutic management of CD are discussed. While surgery is the treatment for localized lesions, steroids and chemotherapy are indicated in the multicentric type. Because of the risk of relapse and malignant transformation, long-term follow-up is mandatory.

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Cerebral, ocular, dental, auricular, skeletal syndrome (CODAS, OMIM 600373) is a very rare congenital malformation syndrome. This clinical entity is highly distinctive and associates mental retardation, cataract, enamel abnormalities, malformations of the helix, epiphyseal and vertebral malformations, and characteristic dysmorphic features. Since 1991, only three affected children have been reported. The etiology and pattern of inheritance of CODAS syndrome still remain unknown. We describe a new sporadic case presenting with all the characteristic features of CODAS syndrome associated with previously unreported malformations of the heart, larynx, and liver. All investigations such as karyotype, metabolic screening and array CGH were normal.

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BACKGROUND: Numerous complications have been described following cochlear implantation. Most of them are post-operative and benign, but some are intra-operative and can be more difficult to manage. METHODS: Case report of a pediatric case of misplaced cochlear electrode in the carotid canal and literature review. RESULTS AND CONCLUSIONS: Post-operative CT-scan allowed the diagnosis. The misplaced cochlear implant in the carotid canal was successfully removed and a successful re-implantation followed immediately. Anatomy of the interval between the cochlea and the carotid canal is reviewed, together with information regarding the neural telemetry response. In each case, specific anatomical landmarks must be identified to perform the cochleostomy in the right position. If not, or if surgery proves itself difficult, the surgeon should intra-operatively control the position of the electrode.

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