Congenital heterotopic colon and pancreas localized to the neck has not been reported. Herein, we describe an extremely uncommon case of congenital heterotopic colon and pancreas aberrantly presented within a cyst on the neck, and the thickened wall of the cyst on ultrasound may represent an important ultrasonic feature.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8192969 | PMC |
http://dx.doi.org/10.3389/fped.2021.655142 | DOI Listing |
J Clin Orthop Trauma
January 2025
Department of Pediatric Orthopaedics, India.
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic illness marked by progressive heterotopic ossification of tendons, ligaments, fascia, and skeletal muscle, leading to immobility and reduced quality of life. Early recognition is critical to avoiding flare-ups often triggered by trivial trauma or medical interventions. This report presents two early-diagnosed FOP cases-one at 6 months, the other at 18 months-both with typical features and congenital great toe abnormalities.
View Article and Find Full Text PDFCase Rep Genet
December 2024
Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Aichi, Japan.
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare disorder caused by heterozygous pathogenic variants and is characterized by both progressive heterotopic ossification of the soft tissues and congenital malformations of the great toe. In addition to pathological skeletal metamorphosis, patients with FOP experience diverse neurological symptoms such as chronic pain and involuntary movements; however, little is known about the association between FOP and epileptic seizures. We report the case of a young boy with FOP who sustained multiple major fractures due to epileptic loss of consciousness.
View Article and Find Full Text PDFPharmaceuticals (Basel)
November 2024
Department of Pediatric Dentistry, Graduate School of Biomedical and Health Sciences, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8553, Japan.
Background: Bisphosphonates used for the treatment of osteoporosis, hypercalcemia, or heterotopic calcifications can cause serious adverse dental events such as osteonecrosis of the maxillary and mandibular bones. However, the effects in childhood remain scarcely explored.
Case Presentations: We encountered two children who had started bisphosphonate therapy before completion of the primary dentition.
Biomedica
November 2024
Servicio de Hospitalización, Hospital Internacional de Colombia, Bucaramanga, Colombia.
Septo-optic dysplasia is a congenital neurological condition with multifactorial etiology, characterized by septum pellucidum agenesis and/or corpus callosum dysgenesis, hypoplasia of the chiasm or optic nerves, and hormonal dysfunction with pituitary or hypothalamic alterations. Diagnosis requires two of these criteria and magnetic resonance is the imaging test of choice. Most cases present with abnormalities of cortical development in the form known as septo-optic dysplasia plus.
View Article and Find Full Text PDFRadiol Case Rep
January 2025
Radiology Department, Pediatric Teaching Hospital, Mohammed V University, Rabat, Morocco.
Fibrodysplasia ossificans progressiva is a rare and severely debilitating genetic disorder affecting approximately 1 in 2 million people. It is characterized by progressive heterotopic ossification of soft tissues, leading to the formation of ectopic bone in extraskeletal areas, as well as congenital malformations of the great toes. FOP can also be considered a disorder of osteochondrogenesis, with most musculoskeletal abnormalities related to dysregulated chondrogenesis, such as heterotopic endochondral ossification, abnormal cartilage formation, growth plate dysplasia, osteochondroma formation, and early arthropathy.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!