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Craniosynostosis as a cause of intracranial hypertension in Alagille syndrome: a case series of 6 consecutive pediatric patients.
Neurosurg Focus
January 2025
1Department of Pediatric Neurosurgery, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris.
Objective: Craniosynostoses are an underrecognized cause of intracranial hypertension (ICH), especially when associated with congenital syndromes. Alagille syndrome (ALGS) is a multisystem disorder with typical facial features and hepatobiliary, cardiac, vascular, skeletal, and ocular manifestations. The occurrence of craniosynostosis in ALGS is rare and can be associated with chronic ICH, requiring craniofacial surgery to increase the intracranial volume.
View Article and Find Full Text PDFUnilateral hemicraniectomy with titanium cranioplasty for the treatment of high intracranial pressure in a pediatric patient with Camurati-Engelmann disease: illustrative case.
J Neurosurg Case Lessons
December 2024
Division of Neurosurgery, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, California.
Background: Camurati-Engelmann disease (CED) is an extremely rare autosomal dominant genetic disorder that can cause increased intracranial pressure (ICP) secondary to cranial hyperostosis, which decreases intracranial volume. Surgical procedures to reduce ICP in medically refractory cases include intracranial volume expansion and ventriculoperitoneal shunting.
Observations: The authors present the case of a pediatric patient with CED and medically refractory increased ICP who underwent unilateral hemicraniectomy with titanium cranioplasty, resulting in a complete long-term resolution of symptoms.
Sudden vision loss in pregnancy: Wernicke's encephalopathy in a patient with hyperemesis gravidarum.
BMJ Case Rep
December 2024
Ophthalmology, Kasturba Medical College Mangalore, Mangalore, Karnataka, India.
Wernicke's encephalopathy, the acute phase of Wernicke-Korsakoff syndrome, is characterised as a triad of altered mental status, ocular signs and ataxia. Our patient presented with hyperemesis gravidarum, which is a rare aetiology of Wernicke's encephalopathy. The patient did not have any oculomotor abnormalities, which are more common and classically described in Wernicke's triad.
View Article and Find Full Text PDFOptic disc changes in Chinese patients with -associated autoinflammatory disease.
Ann Med
December 2025
Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Objective: To investigate the optic disc changes (ODC) in Chinese patients with -associated autoinflammatory disease (-AID).
Methods: Patients who were diagnosed with -AID at the Department of Rheumatology, Peking Union Medical College Hospital between April 2015 and December 2022 were retrospectively reviewed and analyzed.
Results: A total of 20 patients were enrolled in this retrospective study.
Intracranial hypertension as the first manifestation of systemic lupus erythematosus: A case report.
Heliyon
October 2024
Universidad Icesi, CIRAT: Centro de Investigación en Reumatología, Autoinmunidad y Medicina Traslacional, Calle 18 No. 122 -135, Cali, Colombia.
Introduction: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that affects multiple systems and organs, including the central and peripheral nervous systems. Papilledema and idiopathic intracranial hypertension, in the absence of space-occupying lesions or other detectable causes, is a rare manifestation. We report the case of a young woman with chronic headache, papilledema, and intracranial hypertension on examination, in whom a de novo diagnosis of systemic lupus erythematosus and class V lupus nephritis was made.
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