Clinical Features and Associated Abnormalities in Children and Adolescents With Corpus Callosal Anomalies

Kim, Young Uhk; Park, Eun Sook; Jung, Soo‐Jin; Suh, Mi Ri; Choi, Hong Soo; Rha, Dong-Wook

doi:10.5535/arm.2014.38.1.138

Cited by 7 publications

(5 citation statements)

References 9 publications

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“…Like most earlier studies, the present paper confirms that the coexistence of other defects significantly increases the risk of epilepsy [42].…”

Section: Discussionsupporting

confidence: 91%

“…Establishing the prognosis for further neurodevelopment of affected individuals remains difficult, as these infants may not show symptoms during the neonatal period, especially if they have no other associated malformations. Poor outcomes have often been reported when ACC has been associated with extracallosal anomalies, while patients without other associated malformations or chromosomal abnormalities have been shown to be more likely to obtain better neurological outcomes [6,19,25,[40][41][42]. Our results are consistent with these findings.…”

Section: Discussionsupporting

confidence: 91%

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Children with corpus callosum anomalies: clinical characteristics and developmental outcomes

Jańczewska

Preis-Orlikowska

Domżalska-Popadiuk

et al. 2023

Neurol Neurochir Pol.

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Introduction. Corpus callosum abnormalities are complex, aetiologically diverse, and clinically heterogeneous conditions. Counselling parents regarding their causes and associated syndromes, and predicting the neurodevelopmental and seizure risk prognosis, is challenging. Material and methods.We describe the clinical characteristics, associated anomalies, and neurodevelopmental outcomes of children with agenesis of corpus callosum (ACC). Fifty-one neonates with ACC/hypoplasia of the corpus callosum were identified over a 17-year period, and their medical records were retrospectively reviewed. Results.Patients were classified into two groups depending on the presence or absence of associated abnormalities. The first group (17 patients, 33.4%) presented with isolated callosal anomalies. The second group included 34 patients (66.6%) with associated cerebral and extracerebral anomalies. We achieved an identifiable genetic aetiology in 23.5% of our cohort. Magnetic resonance imaging was performed in 28 patients (55%), and of these 39.3% had additional brain anomalies. During the study period, five patients died early in the neonatal period and four were lost to follow up. Of the 42 followed patients, 13 (31%) showed normal neurodevelopment, 13 (31%) showed mild delay, and 16 (38%) had a severe delay. Fifteen (35.7%) had epilepsy.Conclusions and clinical implications. We have confirmed that callosal defects are frequently accompanied by brain and somatic anomalies. Additional abnormalities were shown to be significantly associated with developmental delay and increased risk of epilepsy. We have highlighted essential clinical features that may provide diagnostic clues to physicians and we have given examples of underlying genetic disorders. We have provided recommendations about extended neuroimaging diagnostics and widespread genetic testing that may impact upon daily clinical practice. Paediatric neurologists may therefore use our findings to help base their decisions regarding this matter.

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“…Like most earlier studies, the present paper confirms that the coexistence of other defects significantly increases the risk of epilepsy [42].…”

Section: Discussionsupporting

confidence: 91%

Section: Discussionsupporting

confidence: 91%

Children with corpus callosum anomalies: clinical characteristics and developmental outcomes

Jańczewska

Preis-Orlikowska

Domżalska-Popadiuk

et al. 2023

Neurol Neurochir Pol.

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“…A meta-analysis of nine studies suggests that 70% of children, prenatally diagnosed with isolated CC agenesis, develops normally [114]. However, there are also several studies which report the opposite [110,115]. Whether clinical features are related to the absence of the splenium, or to the associated bilateral hippocampal malrotation is unknown.…”

Section: C1a Agenesis and Dysgenesismentioning

confidence: 99%

The splenium of the corpus callosum: embryology, anatomy, function and imaging with pathophysiological hypothesis

Blaauw

Meiners

2020

Neuroradiology

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Background and purpose The splenium of the corpus callosum is the most posterior part of the corpus callosum. Its embryological development, anatomy, vascularization, function, imaging of pathology, possible pathophysiological mechanisms by which pathology may develop and the clinical consequences are discussed. Methods A literature-based description is provided on development, anatomy and function. MR and CT images are used to demonstrate pathology. The majority of pathology, known to affect the splenium, and the clinical effects are described in three subsections: (A) limited to the splenium, with elaboration on pathophysiology of reversible splenial lesions, (B) pathology in the cerebral white matter extending into or deriving from the splenium, with special emphasis on tumors, and (C) splenial involvement in generalized conditions affecting the entire brain, with a hypothesis for pathophysiological mechanisms for the different diseases.Results The development of the splenium is preceded by the formation of the hippocampal commissure. It is bordered by the falx and the tentorium and is perfused by the anterior and posterior circulation. It contains different caliber axonal fibers and the most compact area of callosal glial cells. These findings may explain the affinity of specific forms of pathology for this region. The fibers interconnect the temporal and occipital regions of both hemispheres reciprocally and are important in language, visuospatial information transfer and behavior. Acquired pathology may lead to changes in consciousness. Conclusion The development, location, fiber composition and vascularization of the splenium make it vulnerable to specific pathological processes. It appears to play an important role in consciousness. AbbreviationAC anterior commissure ACC agenesis of the corpus callosum ADEM acute disseminated encephalomyelitis ADH anti-diuretic hormone AED anti-epileptic drugs AVP arginine-vasopressin CC corpus callosum CLOCC cytotoxic lesions of the corpus callosum DLBCL diffuse large B cell lymphoma GBM glioblastoma multiforme HC hippocampal commissure HIE hypoxic ischemic encephalopathy MERS mild encephalitis/encephalopathy with a reversible splenial lesion PCNSL primary central nervous system lymphoma RESLES reversible splenial lesions syndrome

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“…However, we found very few studies on ACC in our country. A recent article from the perspective of rehabilitation investigated the neurodevelopmental outcomes of corpus callosal anomaly in Korea, but this study also included hypoplasia of corpus callosum as well as ACC [ 31 ]. Although limited in number, our single-center study has modest implications regarding neurodevelopmental outcomes of isolated ACC in Korea.…”

Section: Discussionmentioning

confidence: 99%

Clinical outcomes and neurodevelopmental outcome of prenatally diagnosed agenesis of corpus callosum in single center of Korea

et al. 2017

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ObjectiveWith recent advances and frequent use of prenatal ultrasound, the antenatal diagnosis of agenesis of the corpus callosum (ACC) is not rare in obstetrics practices. However, information regarding the long-term neurological outcome remains uncertain. The aim of this study was to investigate clinical outcomes of prenatally diagnosed ACC and to analyze postnatal neurodevelopmental outcomes of ACC neonates born in our single center.MethodsWe retrospectively reviewed 56 cases of prenatally suspected ACC referred to our center.ResultsFifty-six fetuses were diagnosed with ACC, and 12 of those were followed-up in our center until delivery. Of the remaining 44, 7 were delivered after being referred back to the original hospital, 23 were lost to follow-up, and 14 had unknown outcomes. Among all 56, 29 were considered to have isolated ACC and 27 were considered to have non-isolated ACC. Of the 10 live fetuses delivered in our center, four had isolated ACC, three had non-isolated ACC, and the rest had outcomes unrelated to ACC. Neurodevelopmental outcome was followed-up until approximately age 3 years. Of the four with isolated ACC, three (75%) had normal neurodevelopmental outcomes.ConclusionSimilar to other studies, the results of our single-center study included positive neurodevelopmental outcomes for those with isolated ACC. However, despite our endeavor to counsel patients with prenatally diagnosed ACC, the delivery rate in our center was quite low. Therefore, larger, multicenter, retrospective studies including long-term neurological development outcomes are crucial and urgently needed to provide better counseling.

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Clinical Features and Associated Abnormalities in Children and Adolescents With Corpus Callosal Anomalies

Cited by 7 publications

References 9 publications

Children with corpus callosum anomalies: clinical characteristics and developmental outcomes

Children with corpus callosum anomalies: clinical characteristics and developmental outcomes

The splenium of the corpus callosum: embryology, anatomy, function and imaging with pathophysiological hypothesis

Clinical outcomes and neurodevelopmental outcome of prenatally diagnosed agenesis of corpus callosum in single center of Korea

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