Pallavi Kopparthy, Amar H Kelkar, Kunal Aggarwal, Samantha De Filippis, Brad Fletcher
RATIONALE: Beta thalassemia is a congenital defect in the production of the beta globin chain. Patients with beta thalassemia major will have higher levels of hemoglobin F (HbF), which is suboptimal in releasing oxygen to tissue. Herein, we describe the use of red blood cell (RBC) exchange transfusion, a therapy typically used in sickle cell patients, in the management of a patient with beta thalassemia with extensive extramedullary hematopoiesis and elevated levels of HbF. Patient concerns: A 34-year-old male of mixed African American and Southeast Asian descent with a known history of beta thalassemia major presented with progressive dyspnea on exertion with marked fatigue...
March 1, 2021: Curēus
Kaveh Vahdani, Caroline Thaung, Eugene Tay, Geoffrey E Rose
AIM: To describe the characteristics of patients presenting with congenital orbital cysts containing epithelia of both cutaneous phenotype-that is, epidermis with or without keratin, and at least one dermal structure (sweat gland or pilosebaceous unit)-and conjunctival phenotype (with goblet cells); these cysts with mixed lining are termed "dermo-conjunctival" cysts. PATIENTS AND METHODS: Review of clinical records for patients having dermo-conjunctival cysts that were treated between 1997 and 2017; patients with cysts of solely conjunctival or solely cutaneous origin were omitted...
March 31, 2021: Ophthalmic Plastic and Reconstructive Surgery
Wei Zhang, Lixing Tang, Wentong Ge
Introduction: Nasal glial heterotopia is a rare congenital developmental disorder characterized by meningeal epithelium and/or glial components. Case presentation: A 2-month-old boy presented for treatment of a congenital mass in the right nasal cavity near the pharynx. The preoperative diagnosis was congenital intranasal neoplasm. Nasal endoscopic resection of the nasopharyngeal mass was performed under general anesthesia. Histological findings in the resected tissue supported a diagnosis of intranasal glial heterotopia...
March 2021: Pediatric Investigation
Francesca Galluzzi, Werner Garavello, Gianluca Dalfino, Paolo Castelnuovo, Mario Turri-Zanoni
Congenital bony nasal cavity stenosis is caused by alterations of the normal embryological development of the nasal cavity. Depending on the site of the obstruction, the most important types of stenosis are: choanal atresia and stenosis, congenital nasal pyriform aperture stenosis, congenital midnasal stenosis, arhinia and nasal septum deviation. Although they are uncommon, they could be potentially life-threatening conditions that require early diagnosis and proper treatment. In case of neonatal nasal obstruction, appropriate differential diagnosis with other causes, such as rhinitis and sinonasal masses, are performed by nasal endoscopy and radiological exams...
March 6, 2021: International Journal of Pediatric Otorhinolaryngology
Joana G P Jacinto, Marilena Bolcato, Arcangelo Gentile, Cinzia Benazzi, Luisa Vera Muscatello
Undifferentiated sarcomas are rare conditions that represent a group of unclassified sarcomas. The purpose of this study is to describe the clinical and pathological features of a calf showing a congenital infiltrating suborbital mass suggestive of undifferentiated sarcoma. The animal was referred because of respiratory distress and the presence of a right suborbital mass since birth. At ultrasonography, the mass displayed an irregular shape with multiple cavities. Radiographs revealed a diffuse, poorly defined mass with different densities overlying the bony structures of the skull...
February 18, 2021: Animals: An Open Access Journal From MDPI
Yuqin Zheng, Bin Ye, Jingrong Lv, Mingliang Xiang
<b/> Congenital midline nasal masses are rare. Nasal dermoid sinus cysts(NDSC) are the most common type of the congenital midline nasal masses in childhood. Clinical manifestations are midline nasal cysts, fistula and intracranial attachments. Nasal encephalocele and glioma should be included in the differential diagnosis. Radiologic images are instructive. NDSC are easily misdiagnosed, leading to recurrence and surgical trauma affecting the face. Early appropriate surgical excision is recommended...
February 2021: Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery
B Sallout, D Alshebli, L Sallout, B Al Baqawi, M S Faden
BACKGROUND: Congenital diaphragmatic eventration (CDE) is a rare congenital malformation that is well described in the pediatric literature. In contrast to congenital diaphragmatic hernia (CDH), there is no physical defect in the diaphragm with CDE. Prenatal differentiation of the two pathologies represents a diagnostic and prognostic challenge. CASE: A 26-year-old nulliparous woman was evaluated for a fetal thoracic mass. At 22 weeks, detailed morphology ultrasound revealed a multi-cystic structure in the left side of the thorax...
January 4, 2021: Journal of Obstetrics and Gynaecology Canada: JOGC
Andrés Alvo, Galia Villarroel, Cecilia Sedano
PURPOSE: Congenital nasal obstruction can be a significant cause of respiratory distress in the newborn, given that they are considered to be obligate nasal breathers. Several different causes have been described, which can be broadly classified as anatomical/malformative, non-tumoral masses and cysts, benign and malignant neoplasia, inflammatory/infectious, traumatic/iatrogenic, and miscellaneous. The purpose of this review is to provide updated and useful clinical information for teams involved in neonatal care, especially in a hospital setting...
January 3, 2021: European Archives of Oto-rhino-laryngology
Karishma Tahlan, Nadeem Tanveer, Harresh Kumar, Himanshi Diwan
Glial heterotopias are the displacement of neuroglial tissue in extracranial sites. Nasal glial heterotopias can be of three types-extranasal, intranasal and mixed. Root of the nose is the most common location. These are rare anomalies with an incidence of 1 case in 20,000-40,000 live births. Here we report the case of a 6-month-old infant with a congenital mass located at the root of the nose. Non-contrast computed tomography studies showed no evidence of intracranial communication of the lesion. The mass was excised, and on histopathological examination, it showed glial tissue with astrocytes in a fibrillary background and fibroconnective tissue...
July 2020: Journal of Cutaneous and Aesthetic Surgery
Li Xue, Dong Gehong, Wu Ying, Tao Jianhua, Zhang Hong, Liu Honggang
OBJECTIVE: Nasal meningoencephalocele (encephalocele or cephalocele) is a rare condition with congenital, traumatic, or spontaneous origins. We investigated the clinicopathological characteristics of nasal encephaloceles to improve pathologists' and clinicians' understanding of this disease. METHODS: Sixteen patients with nasal encephaloceles were enrolled in this retrospective study investigating the condition's clinical and morphological features. RESULTS: Patients' average age was 37...
August 13, 2020: Annals of Diagnostic Pathology
Cinthia Giselle Pérez, Paula Gabaldon Masse, Alejandro Cocciaglia, Hugo Rodríguez
INTRODUCTION: Congenital nasal pyriform aperture stenosis (CNPAS) is an uncommon malformation and a rare cause of respiratory distress in neonates that may require early surgical intervention. The aim of this study is to report our experience in patients operated for CNPAS and present characteristics of this population. MATERIAL AND METHODS: A retrospective, analytical cohort study was conducted of patients who underwent surgical treatment for CNPAS in the Hospital de Pediatría Garrahan from May 2008 to May 2018...
August 27, 2020: Acta Otorrinolaringológica Española
Wei Zhang, Lixing Tang, Pengpeng Wang, Wentong Ge, Xin Ni
RATIONALE: Nasal glial heterotopia is a rare type of neoplasm consisting of meningothelial and/or neuroglial elements. PATIENT CONCERNS: A 2-month-old male was evaluated for treatment of a congenital mass in the right nasal cavity near the pharynx. DIAGNOSES: The patient was preoperatively diagnosed with a congenital intranasal neoplasm. INTERVENTIONS: Nasal endoscopic resection of the nasopharyngeal mass was performed under general anesthesia...
July 17, 2020: Medicine (Baltimore)
Kun Ni, Xiaoyan Li, Limin Zhao, Jiali Wu, Xiaojun Liu, Haibo Shi
There have been few studies on congenital nasal dermoid and sinus cysts (NDSCs) in infants.This study was performed to obtain clinical data for the diagnosis and treatment of NDSCs in infants.We performed a retrospective analysis of 11 infants admitted with NDSCs between 2014 and 2019. Patient demographics, lesion site, preoperative radiological findings, surgical technique, intraoperative findings, and postoperative sequelae were analyzed.In total, 11 infants (average age, 19 months; lowest age, 10 months) were included in this study...
May 22, 2020: Medicine (Baltimore)
X J Yang, J Zhang, L X Tang, P P Wang, J H Sun, Y N Wang, W T Ge
Objective: To explore the surgical effect and experience of endoscope-assisted excision for congenital nasal dermoid and sinus cyst (NDSC) in children. Methods: Fifty-three patients with congenital NDSC treated in Beijing Children's Hospital from January 2007 to December 2018 were retrospectively reviewed, including 30 boys and 23 girls, with the age ranging from 9 to 145 months (mean age 35.6 months). The ultra-low-dose CT scan and MRI of the paranasal sinuses were performed for all patients. Excisions of NDSC under general anesthesia were performed for all patients, and surgical approaches were dependent on location and extent of the lesions according to radiographic workups...
March 7, 2020: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
Ayse Ayzit Kilinc, Gulizar Alishbayli, Hasan Emir Taner, Fugen Cullu Cokugras, Haluk Cokugras
BACKGROUND: Cystic fibrosis transmembrane conductance receptor (CFTR)-related disease is diagnosed in patients affected by CFTR dysfunction but who do not fully meet the CF diagnostic criteria. Only 2% of all CF patients have CFTR-related disease. We define the demographic characteristics of such patients, perform mutational analyses, and describe the clinical findings. METHODS: Twenty-four patients were followed-up in terms of CFTR-related disease. Patients with CF symptoms but who did not completely fulfil the CF diagnostic criteria were enrolled...
January 30, 2020: Pediatrics International: Official Journal of the Japan Pediatric Society
K Başak, Ö Günhan, S Akbulut, S Aydin
INTRODUCTION: Congenital salivary gland anlage tumour of the nasopharynx is a lesion which usually presents with nasal and upper respiratory tract obstruction in the neonatal period. Timely diagnosis is essential to prevent the occurrence of respiratory complications in later childhood. CASE REPORT: We present a 8-year-old boy complaining from difficulty in breathing and breastfeeding in the neonatal period due to an adenoid-like nasopharyngeal mass. Histological examination revealed solid and cystic squamous nests and numerous duct-like structures within collagenised stroma...
December 2019: Malaysian Journal of Pathology
Marta Cajozzo, Beatriz Berenguer, Concepción Lorca-García, Juan Vicente Darriba Alles, Roberto García Leal, Elena de Tomás
Midline dermoid cysts are uncommon lesions that can lead to severe complications when an intracranial extension exists. We report the cases of two twin sisters referred to surgery for removal of the masses and the intracranial extension. They represent an additional example of familial nasal dermoid cysts, providing further support for a genetic basis for the disorder.
July 29, 2019: Pediatric Dermatology
Charles E Mackel, Anand Devaiah, James Holsapple, Justin M Moore
BACKGROUND: Pure fusiform aneurysms of the anterior communicating artery are rare. We describe a unique case of a patient with an anterior communicating artery fusiform aneurysm in the setting of several unusual cranial neurocristopathies, including a hypoplastic internal carotid artery, persistent craniopharyngeal canal, transphenoidal encephalocele, and ectopic, duplicated pituitary gland. We also review the literature on cranial base neurocristopathies and anterior communicating artery fusiform aneurysms...
June 13, 2019: World Neurosurgery
Onur Koç, Hakan H Tüz, Emre Tosun
Integrity of the palatal mucosa may be disrupted due to various pathological and congenital factors. In maxillofacial defects, the buccal fat pad has been used frequently to repair the palatal region and close oro-nasal communications. In this case report, the use of buccal fat pad for the closure of a surgical palatal defect is presented with a 3-year follow-up. A 75-year-old female patient visited our clinic with a complaint of a non-adaptive maxillary denture. During clinical and radiographic examination, a well-demarcated mass on the palatal mucosa extending to the soft palate of the left side was observed...
May 10, 2019: Journal of Craniofacial Surgery
Behnam Bohluli, Elizabeth Consky, Farzin Sarkarat, Hesam Abdolhoseinpour
Nasal encephalocele is an uncommon congenital deformity in which the intracranial soft tissue components herniate through the skull base into the nasal cavity. Nasal encephaloceles can form large extracranial masses that necessitate early neurosurgical intervention. They also can cause deformation of the nasal bridge, causing elongation of the nose or severe orbital deformities. The conventional approach requires a wide and complicated intracranial access. This report describes the nasal framework osteotomy, an extracranial approach through the nasal bridge that allows visualization and reflection of the herniated tissue...
February 12, 2019: Journal of Oral and Maxillofacial Surgery
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