Brainstem Disconnection: Case Report and Review of the Literature

Poretti, Andrea; Boltshauser, Eugen; Plecko, Barbara

doi:10.1055/s-2007-985907

Cited by 20 publications

(24 citation statements)

References 7 publications

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“…For example, brain stem disconnection syndrome (BSDS) has been proposed to also be a segmentation disorder. In this very rare and very severe malformation, the junction of the midbrain and pons or the pons and the medulla are completely discontinuous41,42, a feature not observed in model organisms. In all experimental situations in model vertebrates where hindbrain segments are missing, the remaining transformed hindbrain segments always remain contiguous with each other.…”

Section: Hindbrain Segmentation: Development and Malformationsmentioning

confidence: 78%

Model Organisms Inform the Search for the Genes and Developmental Pathology Underlying Malformations of the Human Hindbrain

Aldinger

Elsen

Prince

et al. 2009

Seminars in Pediatric Neurology

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Congenital malformations the human hindbrain, including the cerebellum, are poorly understood largely because their recognition is a relatively recent advance for imaging diagnostics. Cerebellar malformations are the most obvious and best characterized hindbrain malformations due to their relative ease to view by MRI and the recent identification of several causative genes 1 . Malformations of the pons and medulla have also been described both in isolation and in association with cerebellar malformations 2 . Although little is understood regarding the specific developmental pathologies underlying hindbrain malformations in humans, much is known regarding the mechanisms and genes driving hindbrain development in vertebrate model organisms. Thus, studies in vertebrate models provide a developmental framework in which to categorize human hindbrain malformations and serve to inform our thinking regarding disrupted developmental processes and candidate genes. Here we survey the basic principles of vertebrate hindbrain development and integrate our current knowledge of human hindbrain malformations into this framework.The hindbrain controls numerous important physiological processes including respiration, circulation, arousal and motor coordination. Understanding the pathology of human hindbrain malformations, and devising strategies to diagnose and treat them ultimately relies on identifying the causative genes and elucidating the molecular and cellular mechanisms underling the early events that form the nervous system. Studies from vertebrate model systems have already revealed much of the genetic control that underlies the establishment of hindbrain structures and circuits controlling these functions. Given the high degree of neuroanatomical and functional conservation across vertebrates, insights from the analyses of brain development in model organisms are essential to decipher the developmental and genetic bases of human hindbrain malformations.

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Section: Hindbrain Segmentation: Development and Malformationsmentioning

confidence: 78%

Model Organisms Inform the Search for the Genes and Developmental Pathology Underlying Malformations of the Human Hindbrain

Aldinger

Elsen

Prince

et al. 2009

Seminars in Pediatric Neurology

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“…Comparison to the present case reveals some interesting parallels. The basilar artery was hypoplastic or absent in two cases [11,16] and basilar artery fl ow was missing in another case [6] . Non-specifi c cerebellar hypoplasia was present in all.…”

Section: Discussionmentioning

confidence: 99%

Congenital Brainstem Disconnection Associated with a Syrinx of the Brainstem

et al. 2008

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We report a case of congenital brainstem disconnection including the second detailed autopsy. A full-term newborn presented with irreversible apnoea and died on the fifth day. MRI revealed disconnection of the brainstem. The autopsy included a series of transverse sections of the mesencephalon, medulla oblongata and bridging tissue fragments. A fragile tube walled by mature brainstem tissue could be reconstructed. It enveloped a cylinder of fluid within the ventral pons extending to the mesencephalon and the lower brainstem. The aqueduct was patent and outside the lesion. The basilar artery was represented by a tiny median vessel. The ventral and lateral parts of the posterior brainstem were surrounded by heterotopic glial tissue. The olivary nucleus was absent and the cerebellar dentate nucleus was dysplastic. Considering the maturity of the remaining parts of the pons, the onset of structural decline is likely to be close to the time of birth. Probable causes are progressively insufficient perfusion through an hypoplastic basilar artery, and obstructed venous drainage through an abnormal glial barrier surrounding the posterior brainstem. The morphological findings can be characterized as a syrinx, known from disorders in which brainstem or spinal cord are damaged by a combination of mechanical and circulatory factors.

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“…2 Until September 2014, only 12 children with BD have been reported. [2][3][4][5][6][7][8][9][10][11][12][13] The outcome is been poor; the majority of children died within the first 2 months of life without achieving developmental milestones.…”

Section: Introductionmentioning

confidence: 99%

Brainstem Disconnection: Two Additional Patients and Expansion of the Phenotype

et al. 2015

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Brainstem disconnection (BD) is a rare posterior fossa abnormality defined by the nearly complete absence of a brainstem segment with the rostral and caudal brainstem portions connected only by a thin cord of tissue. The outcome is poor and the majority of children die within the first 2 months of life without achieving developmental milestones. We report on the cases of two children with BD and a prolonged spontaneous survival. Neither patient required intubation or mechanical ventilation and each survived longer than 2 months (one child died at the age of 8 months, the other is alive at the age of 4.5 years). In addition, patient 1 is the only child with BD reported so far who achieved some developmental milestones. Although the long-term neurodevelopmental outcome of BD remains unfavorable, the expansion of the phenotypic spectrum may be important in terms of counseling.

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Brainstem Disconnection: Case Report and Review of the Literature

Cited by 20 publications

References 7 publications

Model Organisms Inform the Search for the Genes and Developmental Pathology Underlying Malformations of the Human Hindbrain

Model Organisms Inform the Search for the Genes and Developmental Pathology Underlying Malformations of the Human Hindbrain

Congenital Brainstem Disconnection Associated with a Syrinx of the Brainstem

Brainstem Disconnection: Two Additional Patients and Expansion of the Phenotype

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