Many authors described the effects on the fetus of maternal cocaine abuse during pregnancy. Vasoconstriction appears to be the common mechanism of action leading to a wide range of fetal anomalies. We report on an infant with multiple cranial-nerve involvement attributable to brainstem dysgenesis, born to a cocaine-addicted mother.
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http://dx.doi.org/10.1016/j.pediatrneurol.2009.11.009 | 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 PDFTransl Psychiatry
January 2025
Ear Institute, University College London, London, UK.
The 22q11.2 deletion is a risk factor for multiple psychiatric disorders including schizophrenia and also increases vulnerability to middle-ear problems that can cause hearing impairment. Up to 60% of deletion carriers experience hearing impairment and ~30% develop schizophrenia in adulthood.
View Article and Find Full Text PDFFront Pediatr
December 2024
Department of Ultrasound, Jinan Maternity and Child Care Hospital, Jinan, Shandong, China.
Congenital melanocytic nevus (CMN) syndrome is a rare, non-familial neural ectodermal dysplasia characterized by CMN combined with extracutaneous abnormalities, predominantly involving the central nervous system (CNS). The pathogenesis of CMN syndrome is thought to result from early post-zygotic somatic mutations. CNS melanosis frequently affects the anterior temporal lobes, brainstem, cerebellum, and cerebral cortex.
View Article and Find Full Text PDFMedicina (Kaunas)
December 2024
Department of Neurosurgery, Chung Shan Medical University Hospital, Taichung City 402, Taiwan, China.
Traumatic direct type carotid cavernous fistula (CCF) is an acquired arteriovenous shunt between the carotid artery and the cavernous sinus post severe craniofacial trauma or iatrogenic injury. We reported a 46-year-old woman who had developed a traumatic direct type CCF after severe head trauma with a skull base fracture and brain contusion hemorrhage. The clinical manifestations of the patient included pulsatile exophthalmos, proptosis, bruits, chemosis, and a decline in consciousness.
View Article and Find Full Text PDFIn Vivo
December 2024
Group Brain Vasculature and Perivascular Niche, Division of Experimental and Translational Neuroscience, Krembil Brain Institute, Krembil Research Institute, Toronto Western Hospital, University Health Network, University of Toronto, Toronto, ON, Canada;
Background/aim: Brain arteriovenous malformations (AVMs) are vascular malformations characterized by dysmorphic, aberrant vasculature. During previous surgeries of compact nidus brain AVMs (representing the majority of cases), we have observed a "shiny" plane between nidal and perinidal AVM vessels and the surrounding grey and white matter and hypothesized that preoperative neuroimaging of brain AVMs may show a neuroradiological correlate of these intraoperative observations.
Patients And Methods: We retrospectively reviewed and analyzed multiplanar and multisequence 3-Tesla magnetic resonance (3T MR) imaging in five consecutive brain AVMs with special attention on imaging characteristics of the brain-AVM interface, i.
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