Central sleep apnea and Chiari 1 malformation in a pediatric patient with Klippel-Feil syndrome

Martirosyan, Zara; Malhotra, Sonal

doi:10.5664/jcsm.8650

Cited by 3 publications

(2 citation statements)

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“…Klippel-Feil syndrome (KFS) is a congenital abnormality of the skeletal system that results in the fusion of cervical vertebrae, which was first reported by Klippel and Feil in 1912 (8). The KFS is commonly inherited sporadically, autosomal dominant, or autosomal recessive (9). The KFS manifests with a variety of phenotypes and is associated with laryngeal and genitourinary tract involvement (10)(11)(12).…”

Section: Discussionmentioning

confidence: 99%

A Comprehensive Approach to the Diagnosis and Management of Klippel Feil Syndrome

2023

ARI

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Klippel-Feil Syndrome (KFS) is a rare genetic disorder characterized by the abnormal development of the cervical spine, leading to the fusion of two or more cervical vertebrae. The syndrome presents diverse symptoms, including limited neck movement, chronic pain, and neurological manifestations such as limb numbness or weakness. The severity of KFS can vary significantly, and treatment primarily focuses on symptom management and preventing complications such as scoliosis or spinal cord compression. Surgical interventions are often necessary for patients with complex forms of the syndrome. Interestingly, Chiari 1 malformation, a cranial anomaly affecting the brainstem, can coincide anatomically with KFS. In this case report, we present the case of a 9-year-old patient who sought medical attention due to persistent, unchanging neck pain. The patient's medical history was notable for developmental delays and cervical restraint observed during physical examination. Magnetic resonance imaging (MRI) findings revealed hydrocephalus and brainstem descent, indicating the presence of Chiari 1 malformation. Comprehensive MRI and CT scans were performed, and a management plan was formulated, primarily involving cranial surgery and physiotherapy. Implementation of the treatment approach resulted in significant improvement in the patient's symptoms. This case highlights the significance of considering Chiari 1 malformation as a potential comorbidity in patients diagnosed with KFS who present with persistent neck pain. Early detection and appropriate management of both conditions are crucial for achieving favorable outcomes and enhancing the quality of life for affected individuals. Understanding the complex interplay between KFS and Chiari 1 malformation is essential for providing comprehensive care and tailored treatment strategies. Further research is warranted to elucidate the underlying mechanisms linking these two conditions and to explore optimal management approaches for patients with dual pathology. By reporting this case, we contribute to the existing literature and increase awareness among healthcare professionals regarding the potential coexistence of KFS and Chiari 1 malformation. Continued efforts in identifying associated anomalies and optimizing therapeutic interventions will aid in improving patient outcomes and ensuring optimal care for individuals affected by these conditions.

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Section: Discussionmentioning

confidence: 99%

A Comprehensive Approach to the Diagnosis and Management of Klippel Feil Syndrome

2023

ARI

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“…Apart from these considerations, a very likely genetic basis for C1M is strongly supported by its presence in numerous genetic syndromes associated with different genes (Markunas 2013 ; Merello 2017 ; Rymer 2019 ; Martirosyan 2020 ). Although various information has emerged about the correlations between genetic variants and the presence of either isolated or syndromic C1M, a systematic genome-wide investigation with the extension to apparently healthy parents has never been conducted.…”

Section: Introductionmentioning

confidence: 99%

Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes

et al. 2020

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Type 1 Chiari malformation (C1M) is characterized by cerebellar tonsillar herniation of 3–5 mm or more, the frequency of which is presumably much higher than one in 1000 births, as previously believed. Its etiology remains undefined, although a genetic basis is strongly supported by C1M presence in numerous genetic syndromes associated with different genes. Whole-exome sequencing (WES) in 51 between isolated and syndromic pediatric cases and their relatives was performed after confirmation of the defect by brain magnetic resonance image (MRI). Moreover, in all the cases showing an inherited candidate variant, brain MRI was performed in both parents and not only in the carrier one to investigate whether the defect segregated with the variant. More than half of the variants were Missense and belonged to the same chromatin-remodeling genes whose protein truncation variants are associated with severe neurodevelopmental syndromes. In the remaining cases, variants have been detected in genes with a role in cranial bone sutures, microcephaly, neural tube defects, and RASopathy. This study shows that the frequency of C1M is widely underestimated, in fact many of the variants, in particular those in the chromatin-remodeling genes, were inherited from a parent with C1M, either asymptomatic or with mild symptoms. In addition, C1M is a Mendelian trait, in most cases inherited as dominant. Finally, we demonstrate that modifications of the genes that regulate chromatin architecture can cause localized anatomical alterations, with symptoms of varying degrees.

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Intraoperative neuromonitoring in Chiari I malformation surgery: a systematic review and meta-analysis

Da Cunha,

Pustilnik,

Heber Marques Fontes

et al. 2024

Neurosurg Rev

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Central sleep apnea and Chiari 1 malformation in a pediatric patient with Klippel-Feil syndrome

Cited by 3 publications

References 10 publications

A Comprehensive Approach to the Diagnosis and Management of Klippel Feil Syndrome

A Comprehensive Approach to the Diagnosis and Management of Klippel Feil Syndrome

Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes

Intraoperative neuromonitoring in Chiari I malformation surgery: a systematic review and meta-analysis

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