Objective: The purpose of this article is to offer a systematic approach to the imaging of children with macrocephaly and to illustrate key neuroimaging features of common and rare but important disorders.
Conclusion: Macrocephaly is a common clinical finding in children. Increased volume of one of the intracranial compartments can enlarge the head either prenatally or postnatally while the cranial sutures are open. Imaging plays a central role in establishing a diagnosis and guiding management.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.2214/AJR.17.18693 | DOI Listing |
Radiology
December 2024
From the Departments of Pediatric Imaging (G.B.) and Pediatric Neurology (A.A., A.M.A.), Hôpital Universitaire de Bruxelles, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels, Belgium.
A 10-month-old female infant, who was second-born, was referred for progressive macrocephaly, axial hypotonia, developmental delay, and limb stiffness. Birth had occurred at 41 weeks, after an uneventful pregnancy and delivery, to nonconsanguineous parents. Noticeably, the child could not hold her head up at 4 months or sit at 10 months of age.
View Article and Find Full Text PDFEur J Med Genet
December 2024
Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.
O'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant neurodevelopmental disorder mainly characterized by global development delay/intellectual disability, white matter abnormalities, and behavioral manifestations. It is caused by pathogenic variants in the KMT2E gene. Here we report seven new patients with loss-of-function KMT2E variants, six harboring frameshift/nonsense changes, and one with a 7q22.
View Article and Find Full Text PDFHGG Adv
December 2024
GeneDx, LLC, Gaithersburg MD 20877 USA. Electronic address:
PPP2R5C encodes a B-type regulatory subunit of protein phosphatase 2A (PP2A). This protein serine/threonine phosphatase is a component of multiple signaling pathways and is an established negative regulator of cell division, growth and proliferation. De novo variants in other subunits of protein phosphatase 2A are associated with neurodevelopment disorders and intellectual disability.
View Article and Find Full Text PDFPediatr Neurol
November 2024
Department of Pediatrics, Peking University People's Hospital, Beijing, China; Epilepsy Center, Peking University People's Hospital, Beijing, China. Electronic address:
Background: Epilepsy is not common in pediatric patients with phosphatase and tensin homolog (PTEN) variants. The characteristics of epilepsy, reactions to antiseizure medications, and prognosis in these patients are not fully understood. The aim of this study was to elucidate the characteristics of epilepsy and developmental outcomes in pediatric patients with PTEN variants.
View Article and Find Full Text PDFBackground And Aims: Neurofibromatosis-Noonan syndrome (NFNS) is an extremely rare genetic entity combining the clinical phenotype of two conditions: neurofibromatosis type 1 syndrome (NF1) and Noonan syndrome (NS). Nevertheless, many inconsistencies reside in our understanding of this condition, mainly its clinical features and genetic background. Through this systematic review, we aim to shed light on the epidemiological features, the broad clinical spectrum, the underlying genetic defects and the associated comorbidities of NFNS.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!