Severe KIDAR syndrome caused by deletion in the AP1B1 gene: Report of a teenage patient and systematic review of the literature.

Autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR MIM #242150) is a very rare disorder caused by pathogenic loss-of-function variants in the AP1B1 gene. So far, nine patients have been reported in the literature and more clinical descriptions are essential to further delineate the phenotype of KIDAR. Here we report a new patient with KIDAR and compare the clinical findings with those from the other published cases with molecular confirmation. We describe a 14-year-old male born to non-consanguineous parents with unremarkable family history. The patient had fetal ascites, neonatal pancreatic insufficiency with consequent failure to thrive, feeding difficulties, recurrent infections and sepsis. The skin examination was remarkable for an ichthyosis with conspicuous palmoplantar keratoderma, sparse and brittle hair with alopecia on the vertex and slight bilateral ectropion. He had short stature, thin build, frontal bossing, small teeth and prominent abdomen. Additional features were congenital profound bilateral sensorineural deafness, photosensitivity and photophobia. Mild global developmental delay was noted. Persistent mild anemia, neutropenia, thrombocytopenia, and low serum copper, ceruloplasmin and growth hormone were also present. Brain magnetic resonance imaging (MRI) showed cerebral atrophy and thin corpus callosum. Genetic testing revealed a homozygous deletion in the AP1B1 gene, possibly including the same exons as a previously reported deletion. Comparing the phenotypes of all reported individuals, they are highly concordant and major features are enteropathy with feeding difficulties, failure to thrive, ichthyosis, palmoplantar keratoderma, sensorineural deafness and sparse and brittle hair. Here we report other features present in more than one patient that could be part of the phenotypic spectrum and suggest copy number variation analysis to be performed alongside sequencing of the AP1B1 gene in case of suspicion.

Is Computed Tomography Necessary Before Septoplasty? Correlation With Physical Examination and Patient Complaints.

INTRODUCTION: Septoplasty is one of the most common surgeries performed by otorhinolaryngologists. The gold standard for the evaluation of septal deviation is anterior rhinoscopy and nasal endoscopy. Frequently, computed tomography (CT) is also performed, although the correlation between septal deviation on CT and physical examination is unclear. OBJECTIVES: To study the relationship between symptoms and physical and radiological evaluation in patients who underwent septoplasty. METHODS: A prospective study of patients with nasal obstruction and septal deviation who underwent septoplasty. Anterior rhinoscopy and nasal endoscopy were performed by the surgeon, and the CT was evaluated by a radiologist. The degree of obstruction was evaluated in three distinct septal locations. The Nasal Obstruction Symptom Evaluation (NOSE) score was used before the surgery and two months after the surgery. RESULTS: The study included 43 patients, of whom 60.5% were male, with an average age of 37.09 years (±12.56). The degree of septal deviation in the physical examination was significantly different from that observed in CT (p˂0.05). Cartilaginous or maxillary crest septal deviations >75% were more commonly recognized by physical examination, while osseous septum deviations of 25%-50% were more easily detected by CT. There was no difference between the degree of septal deviation and the preoperative NOSE. The median preoperative NOSE was 60, and the postoperative was 5, with significant improvement (p<0.05). CONCLUSION: CT doesn't appear to be useful in the evaluation of septal deviation since it is different from the findings of a physical examination and isn't associated with the NOSE score. Clinical decisions should be based on a physical examination and patient complaints.

Facial nerve dysfunction following parotidectomy: role of intraoperative facial nerve monitoring.

PURPOSE: Facial nerve dysfunction (FND) is a frequent and serious parotidectomy outcome. Intraoperative facial nerve monitoring (IFNM) is an increasingly used technique to identify the facial nerve (FN) and minimize its injury. This study aimed to evaluate the determinant factors in the presence and severity of FND after parotidectomy, including IFNM. STUDY DESIGN, SETTING AND METHODS: A total of 48 patients consecutively submitted to parotidectomy between 2005 and 2020 in a tertiary hospital were retrospectively analyzed. The House-Brackmann Scale (HBS) was used to assess the severity of FND. RESULTS: There was a mean age of 54.2 ± 17.8 years, 50% were male. Pleomorphic adenoma (41.7%) and Warthin's tumor (25.0%) were most common. From the 23 patients (47.9%) who developed some degree of FND (HBS score of 3.41 ± 1.53), 19 (82.6%) showed facial movement recovery, with a mean recovery time of 4.78 ± 2.53 months. IFNM was performed in 39.6% of the surgeries. The use of IFNM (p = 0.514), the type of surgery-partial or total parotidectomy-(p = 0.853) and the type of histology-benign or malignant lesion-(p = 0.852) did not significantly influence the presence of FND in the postoperative period. However, in the subgroup of patients who developed FND, the HBS value was significantly lower in cases of benign pathology (p = 0.002) and in patients who underwent IFNM (p = 0.017), denoting a significantly lower severity. CONCLUSION: In the present study, IFNM and the existence of a benign lesion have been shown to be associated with lower severity of FND.

Clown Nose: A Rare Hypopharyngeal Cancer Metastasis.

Cutaneous metastases from squamous cell carcinomas of the head and neck region are uncommon, and their location at the nasal tip is exceptionally rare. A patient, previously treated with surgery and chemoradiation for a hypopharyngeal squamous cell carcinoma, developed several red nodular skin lesions at the nasal tip. Biopsy revealed cutaneous metastasis from the primary tumor. This manifestation was previously described as a "clown nose," given their appearance and location. Skin lesions should raise suspicion of malignancy, despite their location at uncommon places, particularly in patients with previous diagnosed cancer. Clinicians must be aware that metastases from head and neck cancer can present as a "clown nose."

Management of post-septal complications of acute rhinosinusitis in children: A 14-year experience in a tertiary hospital.

INTRODUCTION: Acute rhinosinusitis accounts for most of the cases of orbital infections and is the most common cause of periorbital oedema in children. Up to 10% of patients with orbital complications of acute rhinosinusitis may experience vision loss and other complications such as meningitis, intracranial abscess or even death. Therefore, these patients require prompt diagnosis and proper treatment. OBJECTIVES: This study aims to report the clinical presentation and management of post-septal orbital complications of acute rhinosinusitis in the paediatric population. MATERIALS AND METHODS: A retrospective medical chart review of all children aged under 18 years old who were diagnosed with post-septal orbital complications of acute rhinosinusitis at a tertiary academic hospital, between 01/2007 and 12/2020. Patients were grouped according to the Chandler Classification (groups 2-5). RESULTS: Fifty-five children (mean age of 6.91 ± 4.61 years) fulfilled the entry criteria for post-septal orbital complications of acute rhinosinusitis, based on clinical evaluation by an otorhinolaryngologist and CT-scan findings. Forty (72.72%) patients were also evaluated by an ophthalmologist. Most patients were male (76.36%). Twenty-four patients had post-septal cellulitis (43.63%), 21 patients had a subperiosteal abscess (38.18%) and 10 patients had an orbital abscess (18.18%). Eyelid swelling was the most frequent sign, followed by fever. Microbiology varied considerably and gram-positive agents were clearly predominant. Eighteen (32.73%) patients had been treated with oral antibiotics prior to hospital admission, exhibiting a significantly higher risk of recurrence of orbital infection (p = 0.020). Ethmoid and maxillary sinuses were the most involved paranasal sinuses (90.91%). Thirty-three patients (60%) were successfully treated medically, and 22 patients (40%) required surgical drainage. Seven patients (12.73%) developed further complications and six recovered without sequelae. The mean length of hospital stay was 8.0 ± 5.0 days and recurrence of orbital infection occurred in six patients (10.91%). The absolute neutrophil blood count was significantly different amongst Chandler groups (p = 0.021), with higher counts in patients with subperiosteal abscess. The duration of hospitalization was significantly higher in patients submitted to surgery (p < 0.001). CONCLUSION: Post-septal orbital complications of acute rhinosinusitis are infrequent but dangerous events in the paediatric population. Close collaboration with Ophtalmology is paramount, as the child's vision is at risk. Eyelid swelling and proptosis are early signs. CT-scan imaging plays an invaluable role in the diagnosis and decision-making. Predictive indicators for surgery were not found. However, emergency endoscopic nasal surgery with abscess drainage should be considered whenever vision is at risk, if there is no improvement after aggressive medical treatment, and in cases of intracranial complications.

Increased expression of α7nAChR in chronic rhinosinusitis: The intranasal cholinergic anti-inflammatory hypothesis.

OBJECTIVE: Chronic rhinosinusitis results from a dysfunctional host-environment interaction at the site of interface, in the nose and paranasal sinuses. A parasympathetic-mediated anti-inflammatory reflex is known to have a pivotal role in the control of damage induced by immune response to injury and infection; acetylcholine released by peripheral nerves interacts with nicotinic acetylcholine receptor subunit α7 - α7nAChR - of innate immune cells, inhibiting pro-inflammatory signalling. This work aims to investigate whether cholinergic function is implicated in chronic rhinosinusitis. METHODS: α7nAChR mRNA and protein levels were measured in nasal biopsy specimens of 14 patients with CRSwNP, 8 with CRSsNP and 10 control subjects, undergoing surgery. RESULTS: Gene expression levels of α7nAChR did not differ between groups; protein expression was significantly higher in CRSwNP than in CRSsNP (p=0.041), and both of these patient groups showed significant higher levels than controls (CRSwNP vs Controls - p=0.001; CRSsNP vs Controls - p=0.041). CONCLUSION: Elevated α7nAChR protein levels suggest that the cholinergic system is involved in the inflammatory response of chronic rhinosinusitis. This can shed light on both, the disease pathophysiology and the development of future treatment options.

Foreign body ingestion: rare cause of cervical abscess.

INTRODUCTION: Foreign body ingestion is a frequent emergency occurrence. Serious complications, although rare, include pharyngooesophageal perforation, aorto-oesophageal fistula and deep neck infection. MATERIAL AND METHODS: A retrospective review was performed of all cases of foreign body ingestion requiring hospitalization between 1989 and 2011, in a tertiary Hospital. Cases complicated by deep cervical abscess were selected and their clinical presentation, results of diagnostic exams, therapeutics and clinical evolution are presented. RESULTS: Among a total of 1679 cases, 319 were related to pediatric patients and 1360 to adults. Two cases were reported (0.12%): an adult, 41 years-old, with parapharyngeal abscess subsequent to fishbone ingestion, and a child, 13 months-old, with retropharyngeal abscess consequent to chicken bone ingestion. Complications appeared three and four days after foreign body removal, respectively. In both situations cervical computerized tomography scan with contrast and surgical drainage were accomplished; the child was also submitted to rigid esophagoscopy for residual foreign body removal and closure of the associated pharyngeal laceration. DISCUSSION: Deep cervical abscesses are an uncommon but possible complication of foreign body ingestion and constitute a diagnostic challenge, particularly in children. Previous oesophageal manipulation by flexible endoscopy may be considered a risk factor for such complication. Imagiological studies proved to be crucial for diagnosis and therapeutic planning. CONCLUSION: Although a rare complication, given a recent history of foreign body ingestion/removal and the presence of compatible symptoms, cervical abscesses should be taken into account, highlighting their potential morbimortality in the absence of an appropriate therapeutic approach.

IntroduçÉo: A ingestÉo de corpo estranho é um motivo frequente de recurso à urgência hospitalar. As complicações graves, embora raras, incluem perfuraçÉo faringo-esofágica, fistula aorto-esofágica e infecçÉo cervical profunda.Material e Métodos: Foram analisados, retrospectivamente, os casos de ingestÉo de corpo estranho com internamento num hospital terciário, entre 1989 e 2011. Seleccionaram-se os casos complicados por abcesso cervical profundo, descrevendo-se a semiótica, resultados de meios complementares de diagnóstico, terapêutica efectuada e evoluçÉo clínica.Resultados: Dos 1679 casos, 319 referentes a crianças e 1360 a adultos, reportam-se dois casos (0,12%): uma criança, 13 meses, com abcesso retrofaríngeo após ingestÉo de osso de frango e um adulto, 41 anos, com abcesso parafaríngeo após ingestÉo de espinha de peixe. As complicações manifestaram-se quatro e três dias após remoçÉo do corpo estranho, respectivamente. Em ambos foram efectuadas Tomografias Computorizadas cervicais com contraste e drenagem cirúrgica dos abcessos; a criança foi ainda submetida a esofagoscopia rígida para remoçÉo de corpo estranho residual e encerramento da perfuraçÉo esofágica associada.DiscussÉo: Os abcessos cervicais sÉo uma complicaçÉo possível da ingestÉo de corpo estranho e constituem um desafio diagnóstico, principalmente em idade pediátrica. A manipulaçÉo esofágica prévia por fibroscopia poderá ser considerada um factor de risco. A imagiologia (Tomografia Computorizada cervical com contraste ou Resson'ncia Magnética Cervical) foi essencial para o diagnóstico e o planeamento cirúrgico.ConclusÉo: Embora raros, perante a história recente de ingestÉo/remoçÉo de corpo estranho esofágico e a presença de sintomas compatíveis, os abcessos cervicais devem ser tidos em consideraçÉo, dado o potencial de morbilidade e mortalidade na ausência de uma abordagem terapêutica adequada.