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Social impairment and snoring: a unique presentation of pediatric Chiari I malformation
Michelle L Kanney1,2, Jinae Spear1, Daniel P Hsu1,2
1Division of Pediatric Pulmonology, Texas Children's Hospital, Houston, Texas.
Insights
Chiari malformation type 1 (CM-1) in children can present subtly with snoring and social issues. Early recognition and intervention, potentially using polysomnography, are key for managing this pediatric neurological disorder.
Area of Science:
- Pediatric Neurology
- Sleep Medicine
- Neurosurgery
Background:
- Chiari malformation type 1 (CM-1) diagnosis in children is challenging due to slow progression and varied symptoms.
- Obesity can exacerbate or mask CM-1 symptoms.
Observation:
- An 11-year-old obese girl presented with snoring, social impairment, and academic difficulties.
- Initial symptoms were attributed to other causes, with CM-1 incidentally found years prior.
- Severe central sleep apnea was diagnosed via polysomnography.
Findings:
- Brain MRI revealed progressive cerebellar tonsillar herniation and a new cervical syrinx.
- Posterior fossa decompression successfully resolved the patient's symptoms.
- Social and academic issues were likely manifestations of CM-1.
Implications:
- This case highlights the importance of considering CM-1 in pediatric patients with unexplained social and academic decline, even with atypical initial presentations.
- Annual polysomnograms are suggested as a potential surveillance tool for pediatric CM-1.
- Standardized surveillance protocols for pediatric CM-1 are needed.
Abstract:
Symptomatic progression of Chiari malformation type 1 (CM-1) can be difficult to recognize in children because of the slow progressive nature of the disorder and highly varied neurological symptoms. We present a case of an obese 11-year-old girl seeking an evaluation of snoring. Progressive social impairment and academic difficulties were also endorsed. The past medical history was remarkable for absence seizures at an earlier age with an incidental finding of CM-1 on brain imaging. No headaches, vision changes, or swallowing dysfunction were endorsed in the acute presentation. The patient underwent a polysomnogram, which revealed the unexpected finding of severe central sleep apnea. Magnetic resonance imaging of the brain revealed further herniation of the cerebellar tonsils and a cervical syrinx, which was not present on initial imaging. Posterior fossa decompression resulted in the successful resolution of symptoms. It was postulated that the social impairment and academic problems were manifestations of CM-1. There are no current standard protocols for disease surveillance of pediatric CM-1. Annual polysomnograms may serve as a useful tool.
Citation:
Kanney ML, Spear J, Hsu DP. Social impairment and snoring: a unique presentation of pediatric Chiari I malformation. J Clin Sleep Med. 2022;18(12):2867-2870.
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