Preseptal Versus Orbital Cellulitis in Children: An Observational Study.

BACKGROUND: Preseptal and orbital cellulitis are two types of infection surrounding the orbital septum with very different potential outcomes. Our aim was to describe key differential features of both conditions, laying special emphasis on diagnostic and therapeutic tools. METHODS: A retrospective review of patients admitted to a tertiary hospital over a 15-year period (January 2004-October 2019) was conducted. We included 198 patients with preseptal and 45 with orbital cellulitis. Descriptive statistics were performed to examine the available information. RESULTS: Statistically significant differences were found between patients with preseptal and orbital cellulitis regarding age (3.9 ± 2.14 vs. 7.5 ± 4.24 years), presence of fever (51.5% vs. 82.2%), and preexisting sinusitis (2% vs. 77.8%) (all P < 0.001). Diplopia, ophthalmoplegia and proptosis were only present in orbital cellulitis (P < 0.001). Median values of C-reactive protein were significantly higher among children with orbital involvement [136.35 mg/L (IQR 74.08-168.98) vs. 17.85 (IQR 6.33-50.10), P < 0.0001]. A CRP>120 mg/L cut-off point for orbital cellulitis was obtained. Early CT scans were performed in 75.6% of suspected orbital cellulitis and helped detecting complications at an early stage. Abscesses were revealed in 70.6% of cases, especially medial subperiosteal abscesses (58.8%). All patients received intravenous antibiotics, whereas corticosteroids were preferred in patients with orbital implication (8.6% vs. 73.3%, P < 0.001). Only 26.7% of patients required additional surgery. CONCLUSIONS: Clinical presentation and CRP are extremely sensitive for differential diagnosis of preseptal and orbital cellulitis. Prompt initiation of intravenous antibiotics is mandatory and can prevent surgical procedures even in cases with incipient abscesses.

Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of TBL1X.

Transducin ß-like 1 X-linked (TBL1X) gene encodes a subunit of the nuclear corepressor-silencing mediator for retinoid and thyroid hormone receptor complex (NCoR-SMRT) involved in repression of thyroid hormone action in the pituitary and hypothalamus. TBL1X defects were recently associated with central hypothyroidism and hearing loss. The current study aims to describe the clinical and genetic characterization of a male diagnosed with central hypothyroidism through thyroid hormone profiling, TRH test, brain MRI, audiometry, and psychological evaluation. Next-generation sequencing of known genes involved in thyroid disorders was implemented. The 6-year-old boy was diagnosed with central hypothyroidism [free T4: 10.42 pmol/L (normal: 12 to 22 pmol/L); TSH: 1.57 mIU/L (normal: 0.7 to 5.7 mIU/L)], with a mildly reduced TSH response to TRH. He was further diagnosed with attention-deficit/hyperactivity disorder (ADHD) at 7 years, alternating episodes of encopresis and constipation, and frequent headaches. MRI showed a normal pituitary but detected a Chiari malformation type I (CMI). At 10 years, audiometry identified poor hearing threshold at high frequencies. Sequencing revealed a nonsense hemizygous mutation in TBL1X [c.1015C>T; p.(Arg339Ter)] largely truncating its WD-40 repeat domain involved in nuclear protein-protein interactions. In conclusion, to our knowledge, we identified the first severely truncating TBL1X mutation in a patient with central hypothyroidism, hypoacusia, and novel clinical features like ADHD, gastrointestinal dysmotility, and CMI. Given the relevance of TBL1X and NCoR-SMRT for the regulation of transcriptional programs at different tissues (pituitary, cochlea, brain, fossa posterior, and cerebellum), severe mutations in TBL1X may lead to a distinct syndrome with a phenotypic spectrum wider than previously reported.

Parálisis laríngea en la población infantil / Paediatric vocal fold paralysis

Introducción y objetivos: La parálisis laríngea es una causa relativamente frecuente de estridor y disfonía en la edad pediátrica. Este artículo describe nuestra experiencia sobre la parálisis laríngea en la población pediátrica. Métodos: Se incluyeron en el estudio todos los pacientes que acudieron a consulta con el diagnóstico de parálisis laríngea durante un año completo. Se examinaron las historias clínicas de forma retrospectiva. El diagnóstico de parálisis laríngea se llevó a cabo mediante exploración clínica con nasofibroscopio flexible. Se registraron los siguientes datos: etiología de la parálisis, síntomas de presentación, retraso en el diagnóstico, lado afecto, posición de la cuerda vocal y tratamiento recibido. Resultados: Los síntomas de presentación más frecuentes fueron el estridor y la disfonía. La mayor parte de los casos eran de origen iatrogénico, seguido por los casos idiopáticos, neurológicos y obstétricos. La mayoría de los pacientes tenían una parálisis unilateral. El retraso medio en el diagnóstico fue de un mes, y fue significativamente mayor en los casos iatrogénicos. En la mayor parte de los casos no fue necesario ningún procedimiento quirúrgico como tratamiento. Conclusiones: El diagnóstico de parálisis laríngea se sospecha por la clínica, y se confirma por la exploración endoscópica. Los niños que presentan estridor tras un procedimiento quirúrgico deben ser examinados sin demora. Se debe tener en cuenta la posibilidad de recuperación espontánea o de compensación en las parálisis laríngeas (AU)

Introduction and objectives: Vocal fold paralysis (VFP) is a relatively common cause of stridor and dysphonia in the paediatric population. This report summarises our experience with VFP in the paediatric age group. Methods: All patients presenting with vocal fold paralysis over a 12-month period were included. Medical charts were revised retrospectively. The diagnosis was performed by flexible endoscopic examination. The cases were evaluated with respect to aetiology of the paralysis, presenting symptoms, delay in diagnosis, affected side, vocal fold position, need for surgical treatment and outcome. Results: The presenting symptoms were stridor and dysphonia. Iatrogenic causes formed the largest group, followed by idiopathic, neurological and obstetric VFP. Unilateral paralysis was found in most cases. The median value for delay in diagnosis was 1 month and it was significantly higher in the iatrogenic group. Surgical treatment was not necessary in most part of cases. Conclusions: The diagnosis of VFP may be suspected based on the patient's symptoms and confirmed by flexible endoscopy. Infants who develop stridor or dysphonia following a surgical procedure have to be examined without delay. The surgeon has to keep in mind that there is a possibility of late spontaneous recovery or compensation (AU)

Paediatric vocal fold paralysis.

INTRODUCTION AND OBJECTIVES: Vocal fold paralysis (VFP) is a relatively common cause of stridor and dysphonia in the paediatric population. This report summarises our experience with VFP in the paediatric age group. METHODS: All patients presenting with vocal fold paralysis over a 12-month period were included. Medical charts were revised retrospectively. The diagnosis was performed by flexible endoscopic examination. The cases were evaluated with respect to aetiology of the paralysis, presenting symptoms, delay in diagnosis, affected side, vocal fold position, need for surgical treatment and outcome. RESULTS: The presenting symptoms were stridor and dysphonia. Iatrogenic causes formed the largest group, followed by idiopathic, neurological and obstetric VFP. Unilateral paralysis was found in most cases. The median value for delay in diagnosis was 1 month and it was significantly higher in the iatrogenic group. Surgical treatment was not necessary in most part of cases. CONCLUSIONS: The diagnosis of VFP may be suspected based on the patient's symptoms and confirmed by flexible endoscopy. Infants who develop stridor or dysphonia following a surgical procedure have to be examined without delay. The surgeon has to keep in mind that there is a possibility of late spontaneous recovery or compensation.

Kaposiform hemangioendothelioma of the external auditory canal in an adult.

BACKGROUND: Kaposiform hemangioendothelioma is an uncommon vascular tumor initially reported to occur exclusively in children. METHODS: The presentation, pathologic evaluation, and management of an unusual case of kaposiform hemangioendothelioma is presented and discussed. RESULTS: A 27-year-old HIV-negative man was initially seen with a reddish nodule located in the outer third of the external auditory canal. Histologically, the tumor was composed of spindle-shaped cells arranged in short fascicles associated with small endothelial-like vascular spaces, similar in appearance to Kaposi's sarcoma. The lesion was locally excised but recurred 1 month later; then radiation therapy was performed. The patient remains well at 5-year follow-up. CONCLUSIONS: Recognition of kaposiform hemangioendothelioma is important to avoid possible confusion with a variety of vascular neoplasms with different biologic potential. This case presented some diagnostic difficulty because of the age of the patient and the unusual location of the lesion and had to be mainly distinguished from Kaposi's sarcoma.