Chiari I malformation and Noonan’s syndrome: Shared manifestations of RASopathy

Still, Megan; Miller, Patricia E.; Dodd, William E.; Moor, Rachel; Lucke‐Wold, Brandon; Porche, Ken; Foote, Kelly D.

doi:10.52768/2766-7820/1334

Cited by 4 publications

(5 citation statements)

References 17 publications

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“…Postnatal cerebellar overgrowth in RAS/MAPK mutations results in Chiari 1 malformation with the associated hydrocephalus or syringomyelia, which has been thought to contribute to the more rapid progression of spinal deformity 9,15 . While a precise mechanism for this remains to be fully understood, a retrospective cohort study found that approximately one‐quarter of children with Chiari 1 malformation harbor a RAS/MAPK‐related mutation 16,17 . In our study, only one case with CS and scoliosis developed Chiari 1 malformation, with the development of scoliosis potentially being prevented through foramen magnum decompression before its onset.…”

Section: Discussionmentioning

confidence: 60%

“…9,15 While a precise mechanism for this remains to be fully understood, a retrospective cohort study found that approximately one-quarter of children with Chiari 1 malformation harbor a RAS/MAPKrelated mutation. 16,17 In our study, only one case with CS and scoliosis developed Chiari 1 malformation, with the development of scoliosis potentially being prevented through foramen magnum decompression before its onset. In previous reports, the incidence of Chiari 1 malformation in an RAS/MAPK-related disorder was less than 50%, a rate which was higher than that seen in these data.…”

Section: Discussionmentioning

confidence: 61%

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RASopathies and spinal deformities for screening of scoliosis

Machida,

Rocos,

Ohashi

et al. 2023

Pediatrics International

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BackgroundThe RASopathies (Noonan syndrome [NS] and Costello syndrome [CS]) are rare disorders. Although these have been characterized, precise delineation of the differences in the spinal deformities associated with RASopathy has not been described. This study characterized the spinal deformities found in NS and CS and describes a strategy for the screening of scoliosis.MethodsThe clinical records and spinal X‐rays of 35 consecutive NS and CS patients were reviewed. Spinal X‐rays were assessed to define the presence and progression of scoliosis. Clinical records were examined to identify the risk factors associated with scoliosis. In addition, we investigated the association between clinical records and scoliosis using logistic regression analysis.ResultsTwenty‐four patients with NS and 11 with CS were included. Nine patients with NS and five with CS showed scoliosis. The mean ± SD age at diagnosis was 12.6 ± 2.4 years in NS and 11.4 ± 2.5 years in CS (p = 0.55), and mean follow‐up period was 4.8 ± 2.6 years and 6.3 ± 2.4 years (p = 0.42), respectively. The coronal angular deformity at final follow‐up was 27.3 ± 8.5° in NS and 19.4 ± 6.9° in CS (p = 0.030) with a mean annual progression of 2.8 ± 1.1° in NS 1.0 ± 1.0° in CS (p = 0.030). Cardiac disease was present in eight out of nine patients with NS with concomitant scoliosis in NS, and significantly more than in CS (p = 0.007). PTPN11 significantly correlated with scoliosis (odds ratio 12.4 0.035, 95% confidence interval: 1.20–128.00).ConclusionsSpinal deformity in NS is more severe than in CS. This study identified a relationship between PTPN11 and scoliosis. Therefore, PTPN11 can be used for the screening of scoliosis.

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Section: Discussionmentioning

confidence: 60%

Section: Discussionmentioning

confidence: 61%

RASopathies and spinal deformities for screening of scoliosis

Machida,

Rocos,

Ohashi

et al. 2023

Pediatrics International

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“…Viral encephalitis, mitochondrial dysfunction, and other metabolic illnesses can all cause the brain to degenerate in a spongy manner [8]. Similarly, RASopathies such as NS (Noonan Syndrome) and CIM (Chiari I malaformation) have overlapping features of macrocephaly, developmental delay, and neurological sequelae [9]. In our case due to finding like dilation of ventricles was noted, and MRS showed characteristic N-Acetyl-Aspartate (NAA) peaks suggestive of Canavan disease canavan disease was diagnosed.…”

Section: Discussionmentioning

confidence: 62%

Canavan Disease: A Case Report

Rayamajhi¹,

Sunuwar²

2022

J Med Healthcare

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Canavan disease is an autosomal recessive leukodystrophy associated with hypotonia, megalencephaly, mental retardation, blindness and spasticity. The biochemical deficiency of aspartoacylase (ASPA) causes CD. Deficiency in ASPA, which hydrolyzes N-acetylaspartate, results in NAA building up to high millimolar amounts in the brain. The hallmarks of the disease are loss of oligodendrocytes and spongy myelin degradation in the CNS. However, it is unclear whether the disease’s pathophysiology is caused by the accumulation of NAA, the absence of NAA-derived acetate, or the absence of any unknown roles of the ASPA enzyme. In this Review, we present an important and timely update on the current and emerging aspects of this neurological disease. Following a brief overview of canavan disease, we discuss current knowledge of neurological findings, pathophysiology, diagnostic approaches, current canavan disease treatment, and gene therapy’s future prospects.

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“…Craniovertebral junction anomalies like Chiari I malformation have been reported in NS. 4 Our patient had a complex craniovertebral junction anomaly diagnosed by CT. Musculoskeletal abnormalities such as pectus deformity and scoliosis are common in NS. 1 Webbing of the neck with torticollis, prominent trapezius, contractures, high arched palate, and malocclusion of the teeth are common and may cause difficulty in airway management.…”

Section: Discussionmentioning

confidence: 82%

A Rare Neurological Presentation of Noonan Syndrome and Its Management—A Case Report

Mahajan,

Narayanan,

Narayan

et al. 2024

Asian J Neurosurg

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Although Noonan syndrome is a relatively common congenital disorder with autosomal dominant inheritance, its association with cerebrovascular anomalies is rare. We report a case of a 20-year-old with Noonan syndrome with cerebrovascular aneurysm, who underwent successful endovascular coiling. Only four cases of cerebrovascular aneurysms in Noonan syndrome have been reported in the literature so far. To the best of our knowledge, this is only the fifth reported case and the first one that has been treated successfully with endovascular coiling. We hereby discuss the management of this case, which had several comorbidities like congenital heart disease and craniovertebral junction anomaly.

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Chiari I malformation and Noonan’s syndrome: Shared manifestations of RASopathy

Cited by 4 publications

References 17 publications

RASopathies and spinal deformities for screening of scoliosis

RASopathies and spinal deformities for screening of scoliosis

Canavan Disease: A Case Report

A Rare Neurological Presentation of Noonan Syndrome and Its Management—A Case Report

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