Introduction: Teratomas of the head and neck region are rare lesions, representing just 5% of all congenital teratomas. Usually found in the pineal region orneurohypophysis, teratomas are uncommonly located in the posterior occiput.
Case Presentation: Herein, we present a case of a female neonate born at 37-week gestation with hydrocephalus, an occipital scalp lesion, and several craniofacial abnormalities consistent with a diagnosis of coloboma, heart defect, atresia choanae, retarded growth, genital abnormality, and ear abnormality (CHARGE) syndrome. The occipital scalp lesion was initially thought to be an encephalocele. On day of life 3, the neonate was taken to the operating room for placement of a ventriculoperitoneal shunt and repair of the occipital lesion. Intra-operatively, the lesion resembled a dural-based meningocele; however, during histologic evaluation, it was found to contain tissue derived from all three germ layers and thus, it was determined to be more consistent with a teratoma.
Conclusion: We hypothesize that a germline mutation in CHD7 or other similar regulatory gene causative of CHARGE syndrome and craniofacial developmental abnormalities may have contributed to the unusual location of the teratoma in this case.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s00381-019-04433-4 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Utility of word embeddings from large language models in medical diagnosis.
J Am Med Inform Assoc
January 2025
Kennewick, WA 99338, United States.
Objective: This study evaluates the utility of word embeddings, generated by large language models (LLMs), for medical diagnosis by comparing the semantic proximity of symptoms to their eponymic disease embedding ("eponymic condition") and the mean of all symptom embeddings associated with a disease ("ensemble mean").
Materials And Methods: Symptom data for 5 diagnostically challenging pediatric diseases-CHARGE syndrome, Cowden disease, POEMS syndrome, Rheumatic fever, and Tuberous sclerosis-were collected from PubMed. Using the Ada-002 embedding model, disease names and symptoms were translated into vector representations in a high-dimensional space.
Re-evaluating Presumptive Treatment with Doxycycline/ Azithromycin in Children With Acute Febrile Illness in a Scrub Typhus Endemic Region: A Cross-Sectional Study.
Indian Pediatr
January 2025
ICMR Regional Medical Research Centre, Gorakhpur, Uttar Pradesh, India. Correspondence to: Dr Manoj Murhekar, Director-in-Charge, ICMR-Regional Medical Research Centre, Gorakhpur, Uttar Pradesh, India 273013.
Objective: To estimate the proportion of children with acute febrile illness (AFI) attending the peripheral health facilities in Gorakhpur, Uttar Pradesh, India, due to Orientia tsutsugamushi (Ots) and re-evaluate the strategy of presumptive administration of doxycycline/azithromycin (PDA) to patients with AFI.
Methods: Children aged 2-18 years with AFI attending 16 peripheral health facilities in Gorakhpur, Uttar Pradesh, were enrolled in September 2023. Blood samples were tested for O.
Metabolomics of mothers of children with autism, idiopathic developmental delay, and Down syndrome.
Sci Rep
December 2024
Department of Nutrition, Department of Food Science and Technology, University of California, One Shields Avenue, Davis, CA, 95616, USA.
Developmental delays have been associated with metabolic disturbances in children. Previous research in the childhood autism risk from genetics and the environment (CHARGE) case-control study identified neurodevelopment-related plasma metabolites in children, suggesting disturbances in the energy-related tricarboxylic acid (TCA) cycle and 1-carbon metabolism (1CM). Here, we investigated associations between children's neurodevelopmental outcomes and their mothers' plasma metabolite profiles in a subset of mother-child dyads from CHARGE, including those with autism spectrum disorder (ASD, n = 209), Down syndrome (DS, n = 76), idiopathic developmental delay (iDD, n = 64), and typically developed (TD, n = 185) controls.
View Article and Find Full Text PDFBi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.
Am J Hum Genet
January 2025
Division of Evolution, Infection and Genomics, School of Biological Sciences, the University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, the University of Manchester NHS Foundation Trust, Manchester M13 9WL, UK. Electronic address:
The mitochondrial ribosome (mitoribosome) synthesizes 13 protein subunits of the oxidative phosphorylation system encoded by the mitochondrial genome. The mitoribosome is composed of 12S rRNA, 16S rRNA, and 82 mitoribosomal proteins encoded by nuclear genes. To date, variants in 12 genes encoding mitoribosomal proteins are associated with rare monogenic disorders and frequently show combined oxidative phosphorylation deficiency.
View Article and Find Full Text PDFA case report of macular coloboma as an ocular clinical feature in Sturge Weber Syndrome.
Int J Surg Case Rep
December 2024
King Khaled Eye Specialist Hospital, KKESH, Riyadh, Saudi Arabia.
Introduction And Importance: Sturge Weber Syndrome (SWS) is a congenital neurocutaneous disorder that affects several organs. Abnormal ocular findings are typically on the same side as the SWS. These changes can affect various parts of the eye, including the eyelid, front chamber, cornea, choroid, and retina.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!