Structural Abnormalities in the Brainstem and Cerebellum in Congenital Central Hypoventilation Syndrome: Commentary on the article by Kumar et al. on page 275

Kinney, Hannah C.

doi:10.1203/pdr.0b013e318185e155

Cited by 4 publications

(4 citation statements)

References 18 publications

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“…Increased radial diffusivity was detected in the cerebellum [5]. The interpretation of these findings is not quite clear nor is the timing of these abnormalities or their course in the development of the disease [4].…”

Section: Discussionmentioning

confidence: 92%

Cerebral MRI abnormalities in a premature infant with later confirmed congenital central hypoventilation syndrome

et al. 2009

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We present a premature infant with an inability to ventilate spontaneously during sleep periods. In addition, the patient showed general hypotonia. The child had a delayed passage of stool and increased anal muscle tone, indicating Hirschsprung's disease. The combination of these symptoms suggested congenital central hypoventilation syndrome, which was confirmed postmortem by DNA analysis showing a mutation in the PHOX2B gene. MRI of the brain showed damage to the white matter, including the internal capsula. This type of damage to the white matter has not been described before in a premature infant, who did not experience birth asphyxia.

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Section: Discussionmentioning

confidence: 92%

Cerebral MRI abnormalities in a premature infant with later confirmed congenital central hypoventilation syndrome

et al. 2009

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“…However, in the cranial sensory ganglia, PHOX2A moderated the transcription of PHOX2B, as was evidenced in a study on mice [10]. PHOX2B is involved in the development of the noradrenergic neurons, thus facilitating the development of the locus coeruleus, the main source of noradrenaline in the brain, part of the reticular activating system and the nucleus of the solitary tract, which contains A2 noradrenaline synthetizing neurons [6,11]. It is also responsible for appropriate formation of the autonomic and enteric ganglia, as well as the central chemoreceptors and the carotid body (both locus coeruleus and the solitary tract are sensitive to the carbon dioxide) [6,11].…”

Section: Genetic Causes Of Cchsmentioning

confidence: 85%

“…PHOX2B is involved in the development of the noradrenergic neurons, thus facilitating the development of the locus coeruleus, the main source of noradrenaline in the brain, part of the reticular activating system and the nucleus of the solitary tract, which contains A2 noradrenaline synthetizing neurons [6,11]. It is also responsible for appropriate formation of the autonomic and enteric ganglia, as well as the central chemoreceptors and the carotid body (both locus coeruleus and the solitary tract are sensitive to the carbon dioxide) [6,11]. As already mentioned, through co-operation with Nkx2.2, mammalian achaete scute homolog-1 (Mash-1) Phox2b enables formation of the branchiomotorneurons [8].…”

Section: Genetic Causes Of Cchsmentioning

confidence: 99%

Adolescent Congenital Central Hypoventilation Syndrome: An Easily Overlooked Diagnosis

Ditmer

Turkiewicz

Gabryelska

et al. 2021

IJERPH

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Congenital central hypoventilation syndrome (CCHS), also known as Ondine’s curse, is a rare, potentially fatal genetic disease, manifesting as a lack of respiratory drive. Most diagnoses are made in pediatric patients, however late-onset cases have been rarely reported. Due to the milder symptoms at presentation that might easily go overlooked, these late-onset cases can result in serious health consequences later in life. Here, we present a case report of late-onset CCHS in an adolescent female patient. In this review we summarize the current knowledge about symptoms, as well as clinical management of CCHS, and describe in detail the molecular mechanism responsible for this disorder.

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“…Case reports have shown that CSA can be secondary to pure cerebellar dysplasia or atrophy observed from MRI data (Qingyu et al, 2005 ; Taytard et al, 2020 ). In congenital central hypoventilation syndrome, structural and functional MRI and limited postmortem studies reveal abnormalities in both the cingulate gyrus and the cerebellum (Kinney, 2008 ; Kumar et al, 2008 , 2010 ; Patwari et al, 2010 ; Sharman et al, 2014 ). Clinically, researchers found that CSA is a common symptom in patients with Chiari I malformation with inferior cerebellar hernia into the foramen magnum rather than the brainstem (Zaffanello et al, 2017 ).…”

Section: Discussionmentioning

confidence: 99%

Lesions causing central sleep apnea localize to one common brain network

Yuan

Zuo²,

Xu³

2022

Front. Neuroanat.

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ObjectivesTo characterize the specific brain regions for central sleep apnea (CSA) and identify its functional connectivity network.MethodsWe performed a literature search and identified 27 brain injuries causing CSA. We used a recently validated methodology termed “lesion network mapping” to identify the functional brain network subtending the pathophysiology of CSA. Two separate statistical approaches, the two-sample t-test and the Liebermeister test, were used to evaluate the specificity of this network for CSA through a comparison of our results with those of two other neurological syndromes. An additional independent cohort of six CSA cases was used to assess reproducibility.ResultsOur results showed that, despite lesions causing CSA being heterogeneous for brain localization, they share a common brain network defined by connectivity to the middle cingulate gyrus and bilateral cerebellar posterior lobes. This CSA-associated connectivity pattern was unique when compared with lesions causing the other two neurological syndromes. The CAS-specific regions were replicated by the additional independent cohort of six CSA cases. Finally, we found that all lesions causing CSA aligned well with the network defined by connectivity to the cingulate gyrus and bilateral cerebellar posterior lobes.ConclusionOur results suggest that brain injuries responsible for CSA are part of a common brain network defined by connectivity to the middle cingulate gyrus and bilateral cerebellar posterior lobes, lending insight into the neuroanatomical substrate of CSA.

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Structural Abnormalities in the Brainstem and Cerebellum in Congenital Central Hypoventilation Syndrome: Commentary on the article by Kumar et al. on page 275

Cited by 4 publications

References 18 publications

Cerebral MRI abnormalities in a premature infant with later confirmed congenital central hypoventilation syndrome

Cerebral MRI abnormalities in a premature infant with later confirmed congenital central hypoventilation syndrome

Adolescent Congenital Central Hypoventilation Syndrome: An Easily Overlooked Diagnosis

Lesions causing central sleep apnea localize to one common brain network

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