Cranium bifidum is a congenital anomaly caused by abnormal development of the cephalic neural tube. We report two cases of cranium bifidum occultum with defects of both the frontal bone and anterior cranial base accompanied by infection and enlargement of frontonasal dermoid cysts. Surgery successfully interrupted the communication between the intracranial space and nasal cavity by inserting a pericranial flap after removal of the dermoid cysts.
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http://dx.doi.org/10.1016/j.bjps.2011.10.013 | DOI Listing |
Sci Rep
January 2025
Edward B. Singleton Department of Radiology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.
Cerebral proliferative angiopathy (CPA) is a rare subtype of cerebral arteriovenous malformation, characterized by unique angiographic features and clinical presentations. Although the clinical and angiographic characteristics of CPA have been well described, their impact on the surrounding tissues remains underexplored. Herein, we investigated the presence of calvarial thickening in patients with CPA, and discuss its potential pathogenesis.
View Article and Find Full Text PDFMedicine (Baltimore)
January 2025
The Reproductive Medicine Centre, Weifang People's Hospital, Shandong Second Medical University, Weifang, Shandong, China.
Rationale: Microcephaly, epilepsy, and developmental delay (MCSZ) is a rare neurodevelopmental disorder associated with autosomal recessive inheritance of mutations in the polynucleotide kinase 3'-phosphatase (PNKP) gene. Prompt identification and management are essential, as delayed diagnosis or intervention may result in severe complications or mortality. In this case, prenatal screening in the second trimester detected fetal microcephaly with a gradual decline in head circumference, prompting the decision to terminate the pregnancy.
View Article and Find Full Text PDFA A Pract
January 2025
Département d'Anesthésie, Hôpital Antoine Béclère, APHP.Université Paris-Saclay, Clamart, France.
We describe a patient with severe Arnold Chiari Malformation and syringomyelia who underwent gynecological laparoscopy in an emergency context; no brain imaging was available. We here report the successful use of optic nerve sheath diameter (ONSD) and middle cerebral artery (MCA) velocity measurements as surrogate monitoring for cerebral blood flow and intracranial pressure, respectively. MCA velocity was low when assessed after peritoneal insufflation and ONSD increased to 6.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Medicine, Government Medical College Kota, Kota, Rajasthan, India.
This case report presents markedly different clinical and radiological manifestations of the same disease in a family over three consecutive generations with varying treatment strategies. The index case/proband primarily presented with gastrointestinal symptoms, including diarrhoea, bleeding per rectum and seizures. Further evaluation revealed bilateral renal angiomyolipoma and cerebral subependymal nodules, in conjunction with facial adenoma sebaceum, periungual fibromas and hypomelanotic ash-leaf macules.
View Article and Find Full Text PDFHereditary spastic paraplegia (HSP) encompasses a group of rare genetic diseases primarily affecting motor neurons. Among these, spastic paraplegia type 11 (SPG11) represents a complex form of HSP caused by deleterious variants in the SPG11 gene, which encodes the spatacsin protein. Previous studies have described several potential roles for spatacsin, including its involvement in lysosome and autophagy mechanisms, neuronal and neurites development or mitochondria function.
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