Case reportAssociation between restless legs syndrome and Chiari type 1 malformation
Introduction
Chiari malformations are characterized by the displacement of the tonsils and posterior vermis of the cerebellum through the foramen magnum and the resultant compression of the spinomedullary junction. Chiari malformations are classified by type to reflect the degree of displacement as well as the varying etiology of the malformation. The least complicated form is termed a Chiari type 1 malformation (CM-1) [1].
The cause of restless legs syndrome (RLS) is unknown. RLS may be idiopathic or secondary. Idiopathic RLS appears to run in families, suggesting a genetic basis for the syndrome. Separate chromosomal loci have been linked to the disease in longitudinal family genetic studies [2]. A strong family history of RLS is more closely correlated with a younger age at onset [2], [3].
Secondary RLS may be associated with various diseases. Iron deficiency with and without anemia, uremia, pregnancy, rheumatoid arthritis, peripheral neuropathy, radiculopathy, myelopathies, spinal cord compression, multiple sclerosis, Parkinsons disease, spinocereballar ataxia, drugs, caffeine, and alcohol have all been associated with RLS [3], [4]. However, a possible relationship between Chiari malformations and RLS has not been reported in the literature, but a few studies have suggested a possible role for the upper brainstem, diencephalon, red nucleus, and cerebellum in the pathogenesis of RLS [5].
In the present study, we discuss five cases of RLS that had early onsets and poor responses to therapies, and were also considered to be possibly related to CM-1.
Section snippets
Case report
We are following five RLS patients at our neurology outpatient clinic who have also been diagnosed with CM-1. The patients fulfilled the diagnostic criteria for RLS according to the International Restless Legs Syndrome Study Group [6]. Four of these patients are female, and one is male. They range in age from 20 to 31 years old. The duration of RLS in these patients was from 2 to 12 years. None of the patients had a family history of RLS or any other condition that is known to be related to
Conclusions
The RLS symptoms in our cases all began prior to the age of 20. RLS prevalence increases with age. Walters et al. reported that the first symptoms appear in 45% of patients before the age of 20 [7]. Montplaisir et al. reported that the average age of symptom onset is 27, but that symptoms appear in 13% of RLS patients before the age of 10 [8].
The intriguing characteristics of the present cases were that the patients had poor responses to RLS treatments and CM-1 was present in all subjects.
The
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Cerebellum drives functional dysfunctions in restless leg syndrome
2023, Sleep MedicineSensorimotor white matter projections and disease severity in primary Restless Legs Syndrome/Willis-Ekbom disease: a multimodal DTI analysis
2020, Sleep MedicineCitation Excerpt :Considering that the cerebellum has a facilitatory effect on the primary motor cortex excitability [121], disrupted connectivity between these areas could potentially contribute to symptoms of RLS/WED. Notably, high rates of RLS/WED have been found in subjects with the Arnold-Chiari type 1 malformation of the cerebellar tonsils [122], as well as in cerebellar ataxias [123–125]. Furthermore, RD increase in the bilateral superior cerebellar peduncle remained statistically significant after corrections for multiple comparisons according to ROI-analysis, but not to TBSS analysis.
Restless legs syndrome - Theoretical roles of inflammatory and immune mechanisms
2012, Sleep Medicine ReviewsCitation Excerpt :Seven case reports of conditions occurring with RLS were not included in Table 1 or in the 38 conditions highly-associated with RLS. These included familial amyloidosis (4 siblings),28 Morton’s neuroma (1 patient whose symptoms improved after neuroma surgery),29 Huntington’s disease (1 patient),30 hyperparathyroidism (1 patient with mild hypercalcemia that RLS resolved after parathyroid resection),31 multifocal motor neuropathy (1 patient),32,33 Chiari type 1 syndrome (5 patients)34 and transverse myelitis (1 patient who developed myelitis immediately following mononucleosis).35 The latter four conditions, however, are suggestive of the possible role of alterations in spinal sensorimotor circuits as an alternative explanation for RLS pathophysiology.36
Behavioral Sleep Medicine Interventions for Restless Legs Syndrome and Periodic Limb Movement Disorder
2009, Sleep Medicine ClinicsCitation Excerpt :Other less common causes of RLS have also been described. For instance, in a recent case series, five patients who had Chiari-I malformation were found to have RLS.10 Some familial cases of RLS have also been identified, suggesting a genetic component.