Cystic neuroblastoma (CN) is highly unusual; since 2005 only 55 cases have been reported in the medical literature. The authors report a case of pelvic (presacral) CN in a 2-month-old boy. Computed tomography scan confirmed a cystic, septated, and encapsulated mass. Complete tumor excision was achieved. Histopathology diagnosed a stroma-poor and undifferentiated neuroblastoma with multiple calcifications. meta-iodobenzylguanidine scan, radionuclide bone, and a bone marrow aspiration were normal. N-myc amplification was absent. The infant was classified stage I neuroblastoma and received no further therapy (4 y of follow-up). To the authors' knowledge, this is the first report of a CN in a pelvic-presacral location.
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http://dx.doi.org/10.1097/01.mph.0000212975.36619.c7 | DOI Listing |
Cureus
December 2024
Department of Pediatrics, Division of Neonatology, Blythedale Children's Hospital, Valhalla, USA.
Retroperitoneal teratomas are rare neoplasms in neonates, presenting with nonspecific symptoms and variable clinical features, making diagnosis challenging. Radiological investigations, particularly fetal ultrasound and contrast-enhanced computed tomography, play a critical role in their detection. Differential diagnoses include neuroblastoma, adrenal hemorrhage, and congenital cystic lesions, which share overlapping clinical and imaging features.
View Article and Find Full Text PDFNeurobiol Dis
December 2024
Goethe University Frankfurt, University Hospital, Clinic of Neurology, Exp. Neurology, Heinrich Hoffmann Str. 7, 60590 Frankfurt am Main, Germany. Electronic address:
The autosomal recessive disease ataxia-telangiectasia (A-T) presents with cerebellar degeneration, immunodeficiency, radiosensitivity, capillary dilatations, and pulmonary infections. Most symptoms outside the nervous system can be explained by failures of the disease protein ATM as a Ser/Thr-kinase to coordinate DNA damage repair. However, ATM in adult neurons has cytoplasmic localization and vesicle association, where its roles remain unclear.
View Article and Find Full Text PDFCurr Issues Mol Biol
August 2024
Department of Pharmacy, University of Salerno, Via Giovanni Paolo II, 84084 Fisciano, Salerno, Italy.
Most neurodegenerative diseases share a common etiopathogenesis, the accumulation of protein aggregates. An imbalance in homeostasis brought on by the buildup of misfolded proteins within the endoplasmic reticulum (ER) results in ER stress in the cell. Three distinct proteins found in the ER membrane-IRE1α, PERK, and ATF6-control the unfolded protein response (UPR), a signal transduction pathway that is triggered to restore normal physiological conditions.
View Article and Find Full Text PDFCureus
July 2024
Pediatric Surgery, Gandhi Medical College and Hospital, Hyderabad, IND.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
July 2024
Department of Radiology,the Affiliated Hospital of Guizhou Medical University,Guiyang,550004,China.
To explore the imaging features of rare tumors of nasal cavity and sinuses, and to improve the understanding of these diseases, thereby aiding clinical diagnosis and treatment. The CT and MRI findings of 79 cases of rare neoplasm of nasal cavity and sinuses confirmed by pathology were retrospectively analyzed, and the imaging features were summarized. Among the 79 cases, there were 16 cases of neuroendocrine carcinoma, most showing expansive and infiltrative bone destruction without hyperosteogeny and sclerosis.
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