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Juvenile nasopharyngeal angiofibroma in a male of 16 years old. A case report.

ABSTRACT: We present a multisystemic approach involving diverse specialists of a rare disease. Bringing into the perspective the importance of multidisciplinary work and complete patient knowledge in order to an adequate clinical practice and patient outcome.

SUBMITTER: Waxman DS

PROVIDER: S-EPMC7813098 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature

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Juvenile nasopharyngeal angiofibroma in a male of 16 years old. A case report.

Waxman Daniel Salame DS Chavira Adelaido López AL Jiménez Martín Alberto Porras MAP Hernández César López CL Magdaleno Jorge Alberto Romo JAR Montoy Julio Eduardo López JEL

Clinical case reports 20201205 1

We present a multisystemic approach involving diverse specialists of a rare disease. Bringing into the perspective the importance of multidisciplinary work and complete patient knowledge in order to an adequate clinical practice and patient outcome. ...[more]

PMID: 33489182

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Perioperative airway management of a 16-year-old boy with progressive airway obstruction due to juvenile nasopharyngeal angiofibroma.

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Tuberous sclerosis in a 16 years old female: A case report.

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| S-EPMC8844758 | biostudies-literature

Allgrove syndrome: Case report of 18 years old male:the first case report from Syria.

Project description:Triple A syndrome 3A (Allgrove syndrome) is a rare autosomal recessive multiorgans dysfunction characterized by alacrima, achalasia which is the absence of esophageal muscle peristalsis and lower sphincter failure to relax and adrenal insufficiency. About third of patient additional features like neurological and autonomic manifestations reported (making the syndrome 4A), the spectrum of neurological symptoms varies including gait disturbances, parkinsonism, muscle wakeness, mental retardation, peripheral sensory and motor neuropathy. Here we reported A 18 years old male, who had postnatal recurrent conjunctivitis so alacrima was diagnosed, in the sventh years he developed achalasia signs; dysphagia and regurgitation and laparscopic surgical myotomy and fundoplication were done, when he became 16 he presented to our clinic for poor appetite, weight loss,and failure to thrive. Assessment of ACTH, cortisol, ACTH stimulation test confirmed he had adrenal insufficiency and physical examination showed he had foots deformity due to muscular atrophy caused by neuropathy.treatment performed by managing symptoms of the condition(replacement of glucocorticoids, surgical correction of achalasia, artificial tears).The follow-up was over a period of 6 months and we noted a great improvement of patient's condition.

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Implication of embolization in residual disease in lateral extension of juvenile nasopharyngeal angiofibroma.

Project description:A few studies have reported incomplete resection of juvenile nasopharyngeal angiofibroma (JNA) following embolization. The likely effects of embolization, viz. shrinkage/reduced tensile strength may have increased the fragility of tumour, leaving remnants postoperatively particularly across hour-glass constriction of sphenopalatine foramina. This paper describes the likelihood of residual disease being left following embolization and hence the importance of extended surgery for complete excision.

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Differential Gene Expression and Pathway Analysis in Juvenile Nasopharyngeal Angiofibroma Using RNA Sequencing.

Project description:Juvenile nasopharyngeal angiofibroma (JNA) is a highly vascularized and locally aggressive tumor that typically presents in adolescent males. The molecular biology of this tumor remains understudied. We sought to identify differentially expressed genes in the JNA transcriptome through messenger RNA sequencing of primary fibroblasts from 2 tumor explants and tonsil tissue from tumor-free subjects. In total, 1088 significant, differentially expressed genes were identified with 749 upregulated and 339 downregulated. Pathway analysis identified a number of activated signaling pathways, most notably, the vascular endothelial growth factor (VEGF) pathway (adjusted overlap P = .03). VEGF-A showed a 4.4-fold upregulation in JNA samples. In addition, the angiogenic receptor, fibroblast growth factor receptor 2 (FGFR2), was not present in tumor-free samples but increased in JNA. We validate these findings with immunohistochemistry, demonstrating upregulation of VEGF and FGFR2 in patient sections. Inhibition of the VEGF or FGFR signaling axes may have therapeutic potential in the treatment of JNA.

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A Rare Case of a Congenital Nasopharyngeal Ganglioglioma With Dyspnea in a 1-Month-Old Male Infant: A Case Report.

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Differential Gene Expression and Pathway Analysis in Juvenile Nasopharyngeal Angiofibroma Using RNA-Sequencing

Project description:We have identified a set of differentially expressed genes in the juvenile nasopharyngeal angiofibroma transcriptome and predict activation of the vascular endothelial growth factor and interleukin-6 signaling pathways, which represent potential molecular targets for therapy in patients with inoperable or persistent disease. These results implicate the role of fibroblasts as a tumor cell type driving disease progression.

2018-04-18 | GSE99247 | GEO

A 16-year-old boy with bronchial asthma and prinzmetal angina: case report.

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| S-EPMC6177102 | biostudies-literature

Case Report: Successful Cerebral Revascularization and Cardiac Transplant in a 16-Year-Old Male With Syndromic <i>BRCC3</i>-Related Moyamoya Angiopathy.

Project description:Background: BRCC3/MTCP1 deletions are associated with a rare familial moyamoya angiopathy with extracranial manifestations. Case: We report the case of an adolescent male presenting with progressive and symptomatic moyamoya angiopathy and severe dilated cardiomyopathy caused by a hemizygous deletion of BRCC3/MTCP1. He was treated for renovascular hypertension by left kidney homograft and right nephrectomy in infancy and had other syndromic features, including cryptorchidism, growth hormone deficiency, and facial dysmorphism. Due to worsening of the neurological and cardiac condition, he was treated by a direct superficial temporal artery to middle cerebral artery bypass to enable successful cardiac transplant without cerebral damage. Conclusions: BRCC3-related moyamoya is a devastating disease with severe heart and brain complications. This case shows that aggressive management with cerebral revascularization to allow cardiac transplant is feasible and efficient despite end-stage heart failure.

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Atypical angiofibroma in a patient with compromised general health: A case report.

Project description:IntroductionThe nasopharyngeal angiofibroma (NA) is a benign tumor that originates from the pterygopalatine fossa and extends to the adjacent anatomical structures and affects frequently young individuals. The basic treatment for NA is surgical resection, but in some cases the tumor is surgically inaccessible.Case presentationWe describe the case of a 45-year-old male with respiratory difficulty after the appearance of a soft palate lesion. The clinical appearance of NA was not specific.DiscussionThere are still discussions about the best therapeutic strategy and controversies about performing incisional biopsy. To our knowledge, this is the first report of a NA in an adult patient in which the general health conditions prevented the therapeutic approach, besides the extension of the lesion and its complications.ConclusionOur case shows that NA may reach high proportions and its involvement in older patients should be considered. In this report, we showed the limitation of the therapeutic strategy for advanced cases of NA.

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