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Published in Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw, The Final FRCR, 2020
Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw
Band heterotropia is a diffuse form of grey matter heterotopia almost exclusively affecting females. It is associated with seizures and developmental delay. On imaging, this condition is characterised by a band of grey matter located deep to and roughly paralleling the cortex.
Central nervous system
Published in Dave Maudgil, Anthony Watkinson, The Essential Guide to the New FRCR Part 2A and Radiology Boards, 2017
Dave Maudgil, Anthony Watkinson
Are the following statements regarding tuberous sclerosis true or false? Tuber calcifications do not progress after birth.Giant cell astrocytomas of the fourth ventricle are a recognised complication.Grey matter heterotopia appears as hyperintensity on T1-weighted MRI.Cortical tubers are only rarely bilateral.Subependymal hamartomas may line the third and fourth ventricles.
Pyruvate dehydrogenase complex deficiency mimicking congenital cytomegalovirus infection on imaging
Published in Baylor University Medical Center Proceedings, 2022
Jasmin Rahesh, Rohan Anand, Victor Mendiola, Roy Jacob
Imaging findings in the fetus include dysgenetic changes in the corpus callosum, brainstem, and cerebellar hypoplasia and neuronal migrational anomalies including polymicrogyria and gray matter heterotopia. Ventriculomegaly and germinolytic cysts in the caudothalamic region and adjacent to the lateral ventricles have also been described.6 This case showed prominence of the retrocerebellar space, likely related to mega cisterna magna. The finding of periventricular germinolytic cysts adjacent to the frontal horns of the lateral ventricles along with mild dilation of the lateral ventricles was suggestive of an in utero infection like cytomegalovirus vs metabolic disorders including pyruvate dehydrogenase deficiency, disorders of amino acid metabolism, and ureterovesical disorders.4
Cochlear implant in a subject affected by the Chudley-McCullough Syndrome
Published in Cochlear Implants International, 2019
Francesca Forli, Giacomo Fiacchini, Luca Bruschini, Michele Caniglia, Stefano Berrettini
The CMS is an autosomal-recessively inherited disorder caused by mutations in GPSM2 gene (Doherty et al., 2012). First Chudley et al. in 1997 described this syndrome in two sibs of a Canadian-Mennonite family [2] and until today 24 subjects affected by this syndrome are described in literature (Chapman et al., 2016; Hamzeh et al., 2016). The CMS features are sensorineural hearing loss associated with cerebral anomalies, such as arachnoid cysts, hydrocephalus, frontal polymicrogyria, cerebellar dysplasia, grey matter heterotopia and partial agenesis of the corpus callosum (Østergaard et al., 2004; Welch et al., 2003). This combination of brain malformations is highly distinctive and not seen in any other genetic syndrome, even if with a certain degree of variability (Doherty et al., 2012; Kau et al., 2012).
Is CT necessary for imaging paediatric congenital sensorineural hearing loss?
Published in Cochlear Implants International, 2020
O. Chin, F. Dharsono, J. Kuthubutheen, A. Thompson
Incidental intracranial findings were seen on MRI in 31 patients. These included eight cases of periventricular leukomalacia (PVL), four arachnoid cysts, four suspected TORCH, and 1 case each of Chiari I malformation, pontine cap dysplasia, kernicterus, corpus callosal lipoma, and cerebellar siderosis. Other incidental findings included ‘epineural pseudocysts’ of the facial nerve, prominent extra-axial spaces, and grey matter heterotopia. In eight patients, the intracranial findings were felt to be a manifestation of the underlying aetiology of the patient’s hearing loss, in another eight patients, there was a possible association, and in the remaining 15 patients, the intracranial findings were deemed unrelated. In one patient, unilateral microtia was suspected on imaging.