Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease.

Oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome is due to an abnormal development of first and second branchial arches derivatives during embryogenesis and is characterised by hemifacial microsomia associated with auricular, ocular and vertebral malformations. The clinical and genetic heterogeneity of this spectrum with incomplete penetrance and variable expressivity, render its molecular diagnosis difficult. Only a few recurrent CNVs and genes have been identified as causatives in this complex disorder so far. Prenatal environmental causal factors have also been hypothesised. However, most of the patients remain without aetiology. In this review, we aim at updating clinical diagnostic criteria and describing genetic and non-genetic aetiologies, animal models as well as novel diagnostic tools and surgical management, in order to help and improve clinical care and genetic counselling of these patients and their families.

When Stridor is Not Croup: A Case Report.

BACKGROUND: Croup is one of the most common causes of acute respiratory disorder in children. It presents as acute laryngeal symptoms in the context of viral infection. Treatment consists of systemic steroids and aerosolized adrenaline, after which the symptoms must resolve rapidly. There are many differential diagnoses, including neurological causes. In these cases, clinical presentation is atypical and the outcome can be less favorable. CASE REPORT: We present the cases of three children who presented with stridor, which was initially treated as croup but eventually turned out to have a neurological origin. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Clinicians need to be aware of the differential diagnoses of croup. We suggest a few key points to help emergency physicians manage these patients, including adequate use of monitoring and nasofibroscopy. Early identification is a key element in the effective management of certain rapidly progressive neurological diseases.

Transtympanic pseudoaneurysm of the internal carotid artery complicating a myringotomy in a four-year old child: Case report and literature review.

We report the first case of a transtympanic iatrogenic internal carotid artery (ICA) pseudoaneurysm diagnosed in a 4-year-old child following a myringotomy. An endovascular treatment with a covered-stent was decided; spontaneous thrombosis was found during the therapeutic arteriography, and the procedure was aborted. Otoscopy and computed tomography (CT) scan monitoring showed a prolonged thrombosis and the disappearance of the pseudoaneurysm 18months after the diagnostic arteriography. Based on literature review, endovascular techniques seem to be preferred to the surgical approach for treatment of intrapetrous ICA pseudoaneurysm, however clinical and CT scan monitoring may also be a valid option.

Intracranial empyema complicating sinusitis in childhood: Epidemiology, imaging findings and outcome.

BACKGROUND: To describe clinical presentations of intracranial sinusitis complications in childhood, their pitfalls and imaging findings. MATERIEL AND METHODS: This retrospective IRB-approved single-center study included infants diagnosed with sinusitis and empyema and/or other intracranial complications who underwent imaging between September 2008 and September 2019. Three radiologists individually reviewed clinical charts and imaging findings, including sinusitis complications and at-risk anatomical variations. RESULTS: 21 children (76% males and 24% females, mean age 13±3.1 years) with imaging pansinusitis were included. Headache (95%) and fever (90%) were the main clinical nonspecific signs. Ten (48%) children presented an extradural empyema, nine (43%) children had a subdural empyema and two (10%) children had both. Frontal location sinusitis was the most common (76%). In MRI, all empyema presented as a hypo intensity on pre-contrast T1-WI, a hyperintensity on T2-WI, a reduced apparent diffusion coefficient (ADC) on diffusion weighted imaging (DWI) and a peripheral contrast enhancement on post-contrast T1-WI. CT or MRI revealed intracranial complications such as a collection size increase (52%), a midline shift (62%), intraparenchymal abscesses (24%), a cerebral venous thrombosis (29%), an intracranial pressure increase (29%), cerebral ischemia (43%) and Pott's Puffy Tumor (10%). Imaging highlighted sinus anatomical abnormalities in 52% of cases. All children were treated with sinus drainage and/or neurosurgery. Long-term follow-up was favorable in 14 cases (67%). CONCLUSION: Complications of sinusitis are life threatening in the studied population. Empyema and cerebral complications may be misleading. Brain contrast-enhanced CT covering sinuses and orbits, is mainly the first examination done but MRI is mandatory.

Influence of External Beam Radiotherapy on the Properties of Polymethyl Methacrylate-Versus Silicone-Induced Membranes in a Bilateral Segmental Bone Defect in Rats.

INTRODUCTION: Standard care for malignant tumors arising next to a bone structure is surgical removal with safety margins, followed by external beam radiotherapy (EBRT). Complete tumor removal can result in large bone defects. A two-step bone reconstruction technique using the induced membrane (IM) technique has proven its efficacy to bridge gap nonunion. During the first step, a spacer is placed in the bone gap. The spacer then is removed and the IM around it is filled with autologous cancellous bone graft. However, the feasibility of this technique with the addition of adjuvant EBRT between the two reconstruction steps has not yet been studied. Polymethyl methacrylate (PMMA) used to be the standard spacer material for the first step. Silicone spacers could replace them owing to their good behavior when submitted to EBRT and their easier removal from the surgical site during the second step. The aim of this study was to evaluate the influence of EBRT on the histological and biochemical properties of IM induced using PMMA or silicone as spacer. MATERIALS AND METHODS: The analyses were performed on PMMA- or silicone-IM with and without EBRT in a 6-mm bilateral femoral defect in 32 rats. Thickness and vessel content were measured in both groups. Bone morphogenetic protein 2 (BMP2) and vascular endothelial growth factor (VEGF) content in lysates of the crushed membranes were measured by enzyme immunoassay. Finally, alkaline phosphatase activity was analyzed in human bone marrow stromal cell cultures in contact with the same lysates. RESULTS: EBRT did not change the histological structure of the cellular internal layer or the fibrous outer layer. The nature of the spacer only influenced IM thickness, PMMA-IM with external radiotherapy being significantly thicker. EBRT decreased the vascular density of IM but was less effective on VEGF/BMP2 production. In vitro, IM could have an osteoinductive potential on human bone marrow stem cells. CONCLUSION: EBRT did not modify the histological properties of IMs but decreased their vascular density. VEGF and BMP2 production within IMs was not affected by EBRT. Silicone spacers are able to induce membranes with similar histological characteristics to PMMA-IM.

Accuracy of (18) FDG PET-CT for treatment evaluation 3 months after completion of chemoradiotherapy for head and neck squamous cell carcinoma: 2-year minimum follow-up.

BACKGROUND: The purpose of this study was to assess the accuracy of (18) F-fluorodeoxyglucose positron emission tomography ((18) FDG PET)-CT in detecting residual or recurrent disease after nonsurgical treatment for head and neck squamous cell carcinoma (HNSCC). METHODS: We conducted a retrospective analysis of patients with oral cavity, oropharynx, larynx, hypopharynx, or cervical lymph node location of SCC treated with chemoradiotherapy. Twelve weeks posttreatment, (18) FDG PET-CT results were compared to histology if residual disease was suspected. Patients with complete response received a minimum of 24-month follow-up. RESULTS: Forty-seven patients were included with 40 months of median follow-up: 46 with a squamous cell carcinoma (SCC) at the primary site and 43 in the neck. Sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were 86.7%, 90%, 76.5%, and 93.1%, respectively, at the primary site and 100%, 97.2%, 87.5%, 100%, respectively, in the neck. CONCLUSION: (18) FDG PET-CT seems effective in detecting residual disease and in predicting recurrent disease within the first 2 years of follow-up after nonsurgical treatment. © 2015 Wiley Periodicals, Inc. Head Neck 38: E1271-E1276, 2016.