Results 71 to 80 of about 10,101 (182)
Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome
Annals of Clinical and Translational Neurology, Volume 13, Issue 8, Page 1719-1725, August 2026.ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar +3 more
wiley +1 more source
Clinical Case Reports, Volume 14, Issue 8, August 2026.ABSTRACT Open‐lip schizencephaly may remain undiagnosed until adulthood and can be incidentally identified during evaluation for unrelated presentations. This case highlights the coexistence of congenital neurodevelopmental abnormalities and schizoaffective disorder in an adult patient, while emphasizing the diagnostic complexity of interpreting ...
Saachi Bhattessa +3 more
wiley +1 more source
Prenatal and postnatal evaluation of polymicrogyria with band heterotopia
Radiology Case Reports, 2017 The coexistence of band heterotopia and polymicrogyria is extremely rare though it has been reported in the presence of corpus callosum anomalies and megalencephaly.
Usha D. Nagaraj, MD +3 more
doaj +1 more source
CNS Neuroscience &Therapeutics, Volume 32, Issue 8, August 2026.CRC‐related neurological disorders are mainly caused by variants in the CHD and BAF complex. The predominant phenotypes of CRC‐related neurological disorders were GDD/ID and epilepsy. Variants in the CHD and BAF complexes have different phenotypes.
Shimeng Chen +9 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.Exome sequencing in 200 CAKUT patients identified compound heterozygous rare CTU2 variants in one renal‐predominant case. Minigene splicing assays showed c.913C>T partially increased exon 9 skipping, supporting further case collection and kidney‐relevant studies to clarify the role of CTU2 in renal developmental phenotypes.
Qian Liu +5 more
wiley +1 more source
Agenesis of the Corpus Callosum [PDF]
Postgraduate Medical Journal, 1965 J N, HARCOURT-WEBSTER, J H, RACK
openaire +2 more sources
Proud Syndrome: A Rare Cause of Corpus Callosum Agenesis. [PDF]
Cureus, 2023 Devi R +4 more
europepmc +1 more source
Diagnostic Challenges in Choroid Plexus Tumours
Neuropathology and Applied Neurobiology, Volume 52, Issue 4, August 2026.In this review, we summarise the diagnostic spectrum of choroid plexus tumours, highlight key age‐dependent differential diagnoses across infants, children/adolescents and adults, and outline how histopathology, immunohistochemistry and molecular profiling support accurate tumour classification.
Christian Thomas, Martin Hasselblatt
wiley +1 more source
Corpus callosum agenesis: Role of fetal magnetic resonance imaging
Asian Pacific Journal of Reproduction, 2016 Corpus callosum agenesis (CCA) was evaluated by ultrasound examination and magnetic resonance imaging (MRI) with many studies. Ultrasonography was able to suspect CCA by indirect signs but a definitive diagnosis of CCA was achieved in rare cases. MRI was
Achour Radhouane, Neji Khaled
doaj +1 more source
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum
Pediatric Neurology Briefs, 2003 The epidemiological, clinical, and molecular genetic aspects of hereditary motor and sensory neuropathy and agenesis of the corpus callosum (HMSN/ACC) are reviewed by neurologists at McGill University, Montreal, Canada.
J Gordon Millichap
doaj +1 more source