The Arnold-Chiari malformation is very rare hindbrain abnormalities characterized by herniation of the hindbrain through the foramen magnum. It usually does not present until adulthood, and then its symptoms may be varied and subtle. Patient 49 years was diagnosed in Foniatrics and Audiology Clinic because of tinnitus in left ear lasting 3 months. She underwent audiological diagnostic, that did not reveal any abnormalities, except for electrogustometry and hyporeflexia of stapedial reflex and labyrinth on the left side. In MRI scan we have noticed hindbrain abnormalities characteristic for Chiari type I malformation. Treatment consisted of immediate supportive care as needed but without surgical decompression, which was found unnecessary.
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http://dx.doi.org/10.1016/S0030-6657(07)70569-3 | DOI Listing |
Int J Biol Sci
January 2025
Department of Basic & Translational Sciences, School of Dental Medicine, University of Pennsylvania, USA.
Inositol polyphosphate-5-phosphatase E (INPP5E) is a 5-phosphatase critically involved in diverse physiological processes, including embryonic development, neurological function, immune regulation, hemopoietic cell dynamics, and macrophage proliferation, differentiation, and phagocytosis. Mutations in cause Joubert and Meckel-Gruber syndromes in humans; these are characterized by brain malformations, microphthalmia, situs inversus, skeletal abnormalities, and polydactyly. Recent studies have demonstrated the key role of INPP5E in governing intracellular processes like endocytosis, exocytosis, vesicular trafficking, and membrane dynamics.
View Article and Find Full Text PDFCerebellum
January 2025
Department of Neurology, Kailuan General Hospital, No. 57 Xinhua East Road, Lubei District, Tangshan City, 063000, Hebei Province, China.
This study aims to evaluate cognitive impairments in patients with acute cerebellar infarction using event-related potentials (ERP) and electrophysiological source imaging (ESI). Thirty patients with acute cerebellar infarction and 32 healthy volunteers were selected. Cognitive potentials were recorded and measured using a visual Oddball paradigm.
View Article and Find Full Text PDFSurg Radiol Anat
December 2024
Department of Neurosurgery, Nakamura Memorial Hospital, South 1, West 14, Chuo-ku, Sapporo, 060-8570, Hokkaido, Japan.
Purpose: A persistent trigeminal artery is the most common persistent carotid-vertebrobasilar anastomosis. Persistent trigeminal artery variants (PTAVs) terminate in the cerebellar arteries without connecting to the basilar artery; of these, the anterior inferior cerebellar artery (AICA) is the most common. AICA duplication is frequently observed.
View Article and Find Full Text PDFSurg Radiol Anat
December 2024
Department of Neurosurgery, Saitama Sekishinkai Hospital, 2-37-20 Irumagawa, Sayama, Saitama, 350-1305, Japan.
Purpose: To describe a case in which a right replaced posterior cerebral artery (PCA) was associated with an ipsilateral superior cerebellar artery (SCA) type persistent trigeminal artery (PTA) variant.
Methods: A 53-year-old man who had been diagnosed with chronic dissection of the left vertebral artery (VA) 4 months previously underwent follow-up magnetic resonance (MR) angiography using a 3-Tesla scanner.
Results: MR angiography showed a slightly dilated left VA at the terminal segment without interval change.
BMC Pregnancy Childbirth
December 2024
Department of Obstetrics, School of Medicine, Chengdu Women's and Children's Central Hospital, University of Electronic Science and Technology of China, Chengdu, China.
Background: Prenatal whole exome sequencing (WES) is becoming an increasingly used diagnostic tool for fetuses with structural anomalies. However, the identification of variants of uncertain significance (VUS) in clinically relevant genes can significantly complicate prenatal diagnosis and genetic counseling.
Case Presentation: A fetus conceived through in vitro fertilization at the third attempt presented with polydactyly and molar tooth sign at 24 + 6 weeks of gestation.
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