Brothers with Chudley-McCullough syndrome: Sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities

2003 ◽  
Vol 124A (1) ◽  
pp. 74-78 ◽  
Author(s):  
Elsebet Østergaard ◽  
Vibeke Faurholt Pedersen ◽  
Elisabeth B. Skriver ◽  
Karen Brøndum-Nielsen
Keyword(s):  
Corpus Callosum ◽  
Sensorineural Deafness ◽  
Brain Abnormalities ◽  
Structural Brain

Sensorineural deafness, hydrocephalus and structural brain abnormalities in two sisters: The Chudley–McCullough syndrome

2006 ◽  
Vol 140A (11) ◽  
pp. 1183-1188 ◽  
Author(s):  
Fabio Matteucci ◽  
Enrico Tarantino ◽  
Maria Cristina Bianchi ◽  
Cristina Cingolani ◽  
Bruno Fattori ◽  
...  
Keyword(s):  
Sensorineural Deafness ◽  
Brain Abnormalities ◽  
Structural Brain

scholarly journals Cyclic Bicytopenia in a Patient with Shapiro Syndrome

2013 ◽  
Vol 2013 ◽  
pp. 1-4
Author(s):  
Lindsey E. Roeker ◽  
Vinay Gupta ◽  
Wilson I. Gonsalves ◽  
Alexandra P. Wolanskyj ◽  
Naseema Gangat
Keyword(s):  
Differential Diagnosis ◽  
Iron Deficiency ◽  
Corpus Callosum ◽  
Therapeutic Hypothermia ◽  
Iron Deficiency Anemia ◽  
Deficiency Anemia ◽  
Brain Abnormalities ◽  
Structural Brain

Shapiro syndrome and periodic hypothermia have been reported approximately fifty times in the literature. Shapiro syndrome is defined as the constellation of periodic hypothermia and hyperhidrosis along with agenesis of the corpus callosum by Shapiro et al. in 1969. Periodic hypothermia is a more broad diagnosis with a number of proposed mechanisms; it occurs in patients without structural brain abnormalities. Hematologic abnormalities beyond iron-deficiency anemia have not been documented in any of the reported cases of Shapiro syndrome or periodic hypothermia. Though accidental and therapeutic hypothermia have been associated with thrombocytopenia, this is, to our knowledge, the first reported case of periodic intrinsic hypothermia causing bicytopenia. In this report, we present the case of a patient with Shapiro syndrome who experienced cyclic bicytopenia mirroring hypothermic episodes. We address the differential diagnosis of bicytopenia, review the mechanisms proposed for cytopenias related to hypothermia, and propose possible mechanisms for the finding in this case.

Auditory Processing Disorder And Brain Pathology In A Preterm Child With Learning Disabilities

2008 ◽  
Vol 19 (07) ◽  
pp. 557-563 ◽  
Author(s):  
Vassiliki Iliadou ◽  
Doris-Eva Bamiou ◽  
Stergios Kaprinis ◽  
Dimitrios Kandylis ◽  
Nikolaos Vlaikidis ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Auditory Processing ◽  
Brain Mri ◽  
Auditory Processing Disorder ◽  
Gap Detection ◽  
Auditory Processing Disorders ◽  
Brain Abnormalities ◽  
Related Factors ◽  
Preterm Children ◽  
Structural Brain

Background: Auditory processing disorders involve deficits in the processing of information in the auditory domain that are not due to higher order language, cognitive or other related factors. Purpose: To evaluate the possibility of structural brain abnormalities in preterm children manifesting as auditory processing disorders. Research Design : A case report of a young girl, preterm at birth, with language difficulties, learning problems at school, and additional listening problems. Results: A diagnosis of a central auditory processing disorder was made on the basis of severe deficits in three nonspeech temporal tests (the frequency and duration pattern and the random gap detection tests). Her brain MRI revealed large porencephalic cysts and thinning of the corpus callosum. Conclusions: The observed auditory deficits would be compatible with a pressure effect of the cysts at a brainstem or higher level for the random gap detection test, and with the thinning of the corpus callosum for the pattern tests, the latter requiring interhemispheric transfer of information. The case highlights that preterm children with learning difficulties may suffer from an auditory processing disorder, in the presence of structural brain abnormalities that are due to birth and neonatal complications.

Structural brain abnormalities in the early phase of schizophrenia

2008 ◽  
Vol 23 ◽  
pp. S119-S120
Author(s):  
R. Herold ◽  
A. Feldmann ◽  
T. Tenyi ◽  
F. Kover ◽  
S. Fekete
Keyword(s):  
Early Phase ◽  
Brain Abnormalities ◽  
Structural Brain

Neuroleptics in progressive structural brain abnormalities in psychiatric illness

The Lancet ◽  
1998 ◽  
Vol 352 (9130) ◽  
pp. 784-785 ◽  
Author(s):  
AL Madsen ◽  
N Keiding ◽  
A Karle ◽  
S Esbjerg ◽  
R Hemmingsen ◽  
...  
Keyword(s):  
Psychiatric Illness ◽  
Brain Abnormalities ◽  
Structural Brain

scholarly journals Structural brain abnormalities in epilepsy with myoclonic atonic seizures

2021 ◽  
pp. 106771
Author(s):  
Solange Denervaud ◽  
Christian Korff ◽  
Joël Fluss ◽  
Judith Kalser ◽  
Eliane Roulet-Perez ◽  
...  
Keyword(s):  
Brain Abnormalities ◽  
Atonic Seizures ◽  
Structural Brain

scholarly journals Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities

Cell Reports ◽  
2012 ◽  
Vol 2 (6) ◽  
pp. 1554-1562 ◽  
Author(s):  
Martin Breuss ◽  
Julian Ik-Tsen Heng ◽  
Karine Poirier ◽  
Guoling Tian ◽  
Xavier Hubert Jaglin ◽  
...  
Keyword(s):  
Brain Abnormalities ◽  
Tubulin Gene ◽  
Structural Brain ◽  
Β Tubulin

Structural brain abnormalities are related to retinal nerve fiber layer thinning and disease duration in neuromyelitis optica spectrum disorders

2014 ◽  
Vol 20 (9) ◽  
pp. 1189-1197 ◽  
Author(s):  
Felipe von Glehn ◽  
Sven Jarius ◽  
Rodrigo Pessoa Cavalcanti Lira ◽  
Maria Carolina Alves Ferreira ◽  
Fadua H Ribeiro von Glehn ◽  
...  
Keyword(s):  
Nerve Fiber ◽  
Neuromyelitis Optica ◽  
Retinal Nerve Fiber Layer ◽  
Disease Duration ◽  
Diffusion Tensor ◽  
Brain Abnormalities ◽  
Fiber Layer ◽  
Spectrum Disorders ◽  
And Diffusion ◽  
Structural Brain

Background: Although aquaporin-4 (AQP4) is widely expressed in the human brain cortex, lesions are rare in neuromyelitis optica (NMO) spectrum disorders (NMOSD). Recently, however, several studies have demonstrated occult structural brain atrophy in NMO. Objective: This study aims to investigate magnetic resonance imaging (MRI) patterns of gray matter (GM) and white matter (WM) abnormalities in patients with NMOSD and to assess the visual pathway integrity during disease duration correlation of the retinal nerve fiber layer (RNFL) and pericalcarine cortex thickness. Methods: Twenty-one patients with NMOSD and 34 matched healthy controls underwent both high-field MRI (3T) high-resolution T1-weighted and diffusion-tensor MRI. Voxel-based morphometry, cortical analyses (Freesurfer) and diffusion-tensor imaging (DTI) analyses (TBSS-FSL) were used to investigate brain abnormalities. In addition, RNFL measurement by optic-coherence tomography (OCT) was performed. Results: We demonstrate that NMOSD is associated with GM and WM atrophy, encompassing more frequently the motor, sensory and visual pathways, and that the extent of GM atrophy correlates with disease duration. Furthermore, we demonstrate for the first time a correlation between RNFL and pericalcarine cortical thickness, with cortical atrophy evolving over the course of disease. Conclusions: Our findings indicate a role for retrograde and anterograde neurodegeneration in GM atrophy in NMOSD. However, the presence atrophy encompassing almost all lobes suggests that additional pathomechanisms might also be involved.

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