Lesions of the cerebellopontine angle (CPA) in young children are rare, with the most common being arachnoid cysts and epidermoid inclusion cysts. The authors report a case of an encephalocele containing heterotopic cerebellar tissue arising from the right middle cerebellar peduncle and filling the right internal acoustic canal in a 2-year-old female patient. Her initial presentation included a focal left 6th nerve palsy. Magnetic resonance imaging was suggestive of a high-grade tumor of the right CPA. The lesion was removed via a retrosigmoid approach, and histopathologic analysis revealed heterotopic atrophic cerebellar tissue. This report is the first description of a heterotopic cerebellar encephalocele within the CPA and temporal skull base of a pediatric patient.
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http://dx.doi.org/10.1007/s00381-020-05020-8 | DOI Listing |
Sci Rep
October 2024
Université Paris-Saclay, Inserm, physiopathogenèse et traitement des maladies du foie, 94800, Villejuif, France.
Ciliopathies are a diverse group of disorders resulting from abnormalities in the development or function of multiple organs. While significant research has clarified the role of the primary cilium in transducing numerous signalling pathways, elucidating causes of neuronal and skeletal development disorders, the origins of other ciliopathy-related conditions, such as hepatic fibrocystic diseases, remain elusive. Additionally, attempts to correlate specific ciliary proteins with distinct phenotypes have been largely unsuccessful due to the variable and overlapping symptoms of ciliopathies.
View Article and Find Full Text PDFPrenat Diagn
October 2024
Division of Pediatric Neurosurgery, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Objective: Fetal occipital cephaloceles display significant morphologic heterogeneity resulting in variable cognitive and survival outcomes. The purpose of this study was to determine if specific imaging findings could provide predictive information on the clinical outcomes of patients with occipital cephalocele.
Methods: We conducted a retrospective review of fetal occipital cephalocele patients.
Int J Surg Case Rep
September 2024
Department of Paediatrics and Child Health, Aga Khan Hospital Tanzania, P.O. Box 2289, Dar Es Salaam, Tanzania; Department of Paediatrics and Child Health, Aga Khan University, P.O. Box 38129, Dar Es Salaam, Tanzania.
Hum Mol Genet
August 2024
Department of Physiological Chemistry, Graduate School of Pharmaceutical Sciences, Kyoto University, Sakyo-ku, Kyoto 606-8501, Japan.
Primary cilia are antenna-like structures protruding from the surface of various eukaryotic cells, and have distinct protein compositions in their membranes. This distinct protein composition is maintained by the presence of the transition zone (TZ) at the ciliary base, which acts as a diffusion barrier between the ciliary and plasma membranes. Defects in cilia and the TZ are known to cause a group of disorders collectively called the ciliopathies, which demonstrate a broad spectrum of clinical features, such as perinatally lethal Meckel syndrome (MKS), relatively mild Joubert syndrome (JBTS), and nonsyndromic nephronophthisis (NPHP).
View Article and Find Full Text PDFJ Forensic Sci
July 2024
Department of Neurosurgery, La Princesa University Hospital, Madrid, Spain.
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