Although hemangiomas, benign tumors of vascular origin, are very common among children and represent the most frequent benign tumor at that age, their association with other malformations constitutes a rare neurocutaneous disorder called PHACE syndrome. This condition is characterized by posterior fossa anomalies, hemangioma of the face, arterial alterations, cardiac defects, and eye anomalies (as represented by the acronym PHACE); sternum defects, endocrinopathies, and thyreopathies may be present as well. In this report, we describe a case of congenital hypothyroidism due to an empty thyroid site, as demonstrated by ultrasound, in an Italian child.
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http://dx.doi.org/10.1515/jpem-2012-0002 | DOI Listing |
Neurospine
December 2024
Department of Neurosurgery, Chosun University Hospital, Gwangju, Korea.
This case report and video demonstrate the technique of full-endoscopic J-shaped transforaminal L5 exiting nerve decompression in Bertolotti syndrome. Bertolotti syndrome, characterized by a congenital lumbosacral transitional vertebra, often results in mechanical lower back pain and nerve root compression. A 69-year-old male presented with progressive radiating pain in the right leg and tingling in the L5 dermatome.
View Article and Find Full Text PDFFolia Morphol (Warsz)
January 2025
Department of Orthopedics and Traumatology, University Hospital Queen Giovanna-ISUL, Medical University of Sofia, Sofia, Bulgaria.
Variations in the development of carpal bones are uncommon, with the scaphoid bone typically forming from the fusion of the os centrale carpi and the radial chondrification center during embryogenesis. A bipartite scaphoid is a rare congenital disorder that occurs when these ossification centers fail to fuse, with a prevalence ranging from 0.1% to 0.
View Article and Find Full Text PDFInt J Surg
January 2025
Department of Orthopedics, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Purpose: Congenital pseudarthrosis of the tibia (CPT) is a rare condition typically manifesting within the first decade of life. The primary objectives of surgical intervention for CPT include achieving long-term bony union of the tibia, preventing or minimizing limb length discrepancies (LLD), avoiding mechanical axis deviations of the tibia and adjacent joints, and preventing refracture. This study aims to conduct a systematic review of current treatment methods for CPT to determine the most effective non-surgical and surgical management strategies for pediatric patients with this condition.
View Article and Find Full Text PDFCureus
December 2024
Cardiovascular Surgery, Kawasaki Municipal Hospital, Kawasaki, JPN.
A 40-year-old male visited our clinic for cardiac evaluation. He had palpitations for several years, but the reason was unknown. Transthoracic echocardiography revealed a hyperechoic ribbon-shaped structure that moved vigorously in the right atrium.
View Article and Find Full Text PDFA 21-year-old man, known case of the repaired congenital heart disease, developed complete atrioventricular block (AVB) one week after simultaneous bioprosthetic pulmonary and tricuspid valve replacement and atrial septal defect repair. Considering the persistence of the AVB, it was decided to implant a permanent pacemaker. After considering all available options and the issues related to the patient, it was decided to implant a leadless pacemaker (LLP).
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