Tethered cord syndrome resembling Charcot-Marie-Tooth disease in closed spinal dysraphism

Souza, Paulo Victor Sgobbi de; Pedroso, José Luiz; Pinto, Wladimir Bocca Vieira de Rezende; Barsottini, Orlando Graziani Póvoas; Oliveira, Acary Souza Bullé

doi:10.1590/0004-282x20130215

Cited by 2 publications

(3 citation statements)

References 3 publications

(3 reference statements)

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“…To our knowledge, only two cases have been reported in the literature which discuss the relationship between CMT disease and TCS [ 12 , 13 ]. In both of these cases, the patients were initially diagnosed with CMT disease until a lumbar MRI confirmed spinal cord tethering.…”

Section: Discussionmentioning

confidence: 99%

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Importance of Electrodiagnostic Testing Prior to a Tethered Cord Release in a Patient with Overlapping Symptoms of Charcot-Marie-Tooth Disease

Shields¹,

Iyer²,

Shields³

2022

Cureus

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Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder causing a symmetric, slowly progressive distal neuropathy of the legs and arms. Tethered cord syndrome (TCS) encompasses a constellation of neurological, gastrointestinal, musculoskeletal, and urinary abnormalities resulting from spinal cord traction. The signs and symptoms of CMT and TCS may be very similar. Electrodiagnostic (EDX) studies are crucial in differentiating between these two conditions. We describe a 20-year-old woman with a history of low back pain, right leg tingling, and difficulty in walking. She experienced bowel and urinary incontinence 11 years earlier as well as back pain, in-toeing gait, and difficulties with balance and coordination. Urodynamic studies and cervical, thoracic, and lumbar magnetic resonance imaging (MRI) were normal, with the latter demonstrating the tip of the conus medullaris in the normal position at the L1-2 interspace and the filum terminale demonstrating no thickening or fatty infiltration. Despite the absence of radiological evidence of TCS, she underwent a tethered cord release (TCR) with improvement of the pain postoperatively. Two years later, the back pain recurred with increasing pain, paresthesia, and weakness of the lower extremities with frequent trip and fall episodes. EDX studies of the lower extremities were requested. Clinical findings included weakness of flexion and extension of the toes as well as dorsiflexors of the ankles bilaterally. The knee and ankle reflexes were absent bilaterally. EDX testing of the lower extremities were non-diagnostic due to loss of sensory and compound muscle action potentials. EDX studies of the upper extremities suggested a demyelinating polyneuropathy, most likely CMT disease. Genetic studies subsequently confirmed CMT type 1A (CMT1A) disease. Ensuing EDX studies on the patient's father and brother also suggested CMT1A disease. Physicians should be aware of the overlapping signs and symptoms of CMT disease and TCS. Performing comprehensive EDX studies prior to a TCR particularly in cases when a lumbar MRI is negative may prove valuable in identifying cases of CMT disease with subsequent confirmation by genetic testing.

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Section: Discussionmentioning

confidence: 99%

“…Souza and colleagues reported a 23-year-old man with progressive difficulty with walking since childhood as well as a three-year history of urinary retention [ 12 ]. Pes cavus, hammer toes, and peroneal atrophy were observed on exam.…”

Section: Discussionmentioning

confidence: 99%

Importance of Electrodiagnostic Testing Prior to a Tethered Cord Release in a Patient with Overlapping Symptoms of Charcot-Marie-Tooth Disease

Shields¹,

Iyer²,

Shields³

2022

Cureus

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“…In addition, TCS is often associated with various complex genetic syndromes. Among the cases included in our study, there were 35 cases of Currarino's triad, 78 of Ehlers-Danlos syndrome, 18 of VACTERL (vertebral anomalies, anorectal malformations, cardiovascular anomalies, tracheoesophageal fistula, esophageal atresia, renal and/or radial anomalies, limb defects) syndrome, 2 of Charcot-Marie-Tooth disease, 23 2 of Russell-Silver syndrome, 24,25 and 1 case each of Sprengel's deformity, 26 Pallister-Killian syndrome 27 and Verheij syndrome. 28 Urodynamic tests and neurophysiological examinations are essential diagnostic tools for TCS.…”

Section: Diagnostic Examinationmentioning

confidence: 99%

Tethered cord syndrome from pediatric and adult perspectives: a comprehensive systematic review of 6135 cases

He,

Wang,

Liu

et al. 2024

Neurosurgical Focus

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OBJECTIVE This study aimed to investigate the differences in clinical features, diagnostic examination, treatment, and pathological results between adult-onset and pediatric-onset tethered cord syndrome (TCS). METHODS The authors searched the PubMed, Embase, and Cochrane Library databases through January 2023 for reports on TCS, extracting information on clinical features, imaging data, treatment modalities, prognosis, and pathological research results. A total of 6135 cases from 246 articles were included in the analysis. This review was conducted in accordance with the 2020 PRISMA guidelines and registered on PROSPERO. RESULTS The most common adult clinical manifestations were pain, urinary symptoms, and numbness; in children, they were urinary symptoms, skin lesions, bowel symptoms, and unspecific motor deficits. Surgical treatment was the primary approach for both adults and children, with a higher clinical improvement rate observed in adults. However, adults also had a higher rate of surgical complications than children. TCS pathological studies have not yet identified the differences between adults and children, and the pathogenesis of adult-onset TCS requires further investigation. CONCLUSIONS Adult-onset and pediatric-onset TCS exhibit certain differences in clinical characteristics, diagnostic examinations, and treatments. However, significant differences have not been found in current pathological studies between adults and children. Systematic review registration no.: CRD42023479450 (www.crd.york.ac.uk/prospero)

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Tethered cord syndrome resembling Charcot-Marie-Tooth disease in closed spinal dysraphism

Cited by 2 publications

References 3 publications

Importance of Electrodiagnostic Testing Prior to a Tethered Cord Release in a Patient with Overlapping Symptoms of Charcot-Marie-Tooth Disease

Importance of Electrodiagnostic Testing Prior to a Tethered Cord Release in a Patient with Overlapping Symptoms of Charcot-Marie-Tooth Disease

Tethered cord syndrome from pediatric and adult perspectives: a comprehensive systematic review of 6135 cases

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