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OBJECTIVE: The link between Tethered Cord Syndrome (TCS) and Neurofibromatosis Type 1 (NF1) remains unclear. To date, only two studies have indicated a high occurrence of TCS in the pediatric NF1 patient population. Our study aims to ascertain the incidence of TCS among Chinese pediatric patients with NF1. METHODS: A single-institution, 8-year retrospective analysis at a tertiary-level children's hospital was conducted for patients with NF1 who underwent surgery for TCS. The clinical features, imaging characteristics, genetic testing outcomes, and histopathological findings of pediatric NF1 patients with TCS were analyzed. RESULTS: During the study period, a total of 115 pediatric patients were diagnosed with NF1. Among these 115 NF1 patients, 11 individuals, accounting for 9.6% of the sample, were confirmed to have TCS. This rate of occurrence is significantly higher than the incidence rate of TCS in the general population, which stands at 0.17%. All 11 of the pediatric NF1 patients underwent surgery for TCS. Out of the 11 patients who were advised to have tethered cord release surgery, 4 (which is 36.4%) were girls, and the average age of these 11 patients was 8.6 years old, with ages ranging from 2 to 17 years old. The conus medullaris position of the 11 pediatric NF1 patients ranged from L1 to L2, and 10 of them (91%) had a filum terminale lipoma, characterized by high signal intensity on T1-weighted magnetic resonance (MR) images. Another patient was diagnosed with Occult Tethered Cord Syndrome (OTCS). All 11 pediatric NF1 patients exhibited symptoms associated with TCS, such as neuromotor dysfunction, abnormalities in urination, defecation, skeletal system abnormalities, or pain. Eight of the 11 pediatric NF1 patients had undergone genetic testing, which is a crucial part of the diagnostic process for NF1. The histopathological examination of the 11 pediatric NF1 patients who underwent surgery revealed that 10 patients had fatty infiltration of the filum terminale (FT), while the remaining patient exhibited fibrosis of the filum terminale (FT). CONCLUSIONS: In the group of pediatric patients with NF1, the incidence of TCS, presenting to the pediatric neurosurgery clinic for any reason, is significantly higher than that of the general population. However, the pathophysiological relationship between NF1 and TCS is still not clear. It is essential to provide counseling to NF1 patients and their families about the symptoms of TCS to make sure they are aware and can seek the necessary care when needed. This underscores the importance of not only diagnosing NF1 but also staying alert for related conditions like TCS, which may have a higher occurrence in this demographic.

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BACKGROUND: Paramyotonia congenita is a rare autosomal dominant myopathy which presents with periodic weakness due to cold and exercise. It is caused by mutations of the SCN4 gene which encodes the sodium channel in skeletal muscles. CASE PRESENTATION: We report a full term obstetric patient with both paramyotonia congenita and terminal filum lipoma who presents for induction of labour followed by an emergency caesarean section performed under epidural anesthesia. Her recovery is subsequently complicated by a 3-day history of postpartum paraparesis attributed to hypokalemic periodic paralysis. CONCLUSION: We describe the perioperative anesthesia considerations and challenges in this case with a review of the current literature. This case report highlights the importance of early proactive and collaborative multidisciplinary approach, maintaining normal temperature and electrolytes with a heightened vigilance for muscle-related perioperative complications.

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OBJECTIVE The relationship between a tethered cord (TC) and neurofibromatosis type 1 (NF1) and NF2 is not known. The purpose of this study was to define the incidence of TC in pediatric neurosurgical patients who present with NF. METHODS The authors performed a single-institution (tertiary care pediatric hospital) 10-year retrospective analysis of patients who were diagnosed with or who underwent surgery for a TC and/or NF. Clinical and radiological characteristics were analyzed, as was histopathology. RESULTS A total of 424 patients underwent surgery for a TC during the study period, and 67 patients with NF were seen in the pediatric neurosurgery clinic. Of these 67 patients, 9 (13%) were diagnosed with a TC, and filum lysis surgery was recommended. Among the 9 patients with NF recommended for TC-release surgery, 4 (44%) were female, the mean age was 8 years (range 4-14 years), the conus position ranged from L1-2 to L-3, and 3 (33%) had a filum lipoma, defined as high signal intensity on T1-weighted MR images. All 9 of these patients presented with neuromotor, skeletal, voiding, and/or pain-related symptoms. Histopathological examination consistently revealed dense fibroconnective tissue and blood vessels. CONCLUSIONS Despite the lack of any known pathophysiological relationship between NF and TC, the incidence of a symptomatic TC in patients with NF1 and NF2 who presented for any reason to this tertiary care pediatric neurosurgery clinic was 13%. Counseling patients and families regarding TC symptomatology might be indicated in this patient population.

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Filum terminale lipoma (FTL) causes various spinal symptoms known as tethered cord syndrome. The treatment for FTL is surgical untethering by sectioning the FTL, which can prevent symptom progression and often results in improvement of symptoms. This report describes a minimally invasive surgical strategy that we have introduced for FTL sectioning. The pediatric patients with FTL since 2007 were treated using this minimally invasive surgical strategy, which we refer to as an interlaminar approach (ILA). In summary, the surgical technique involves: minimal skin incision to expose the unilateral ligamentum flavum in the lower lumbar region; ligamentum flavum incision to expose the dural sac, and dural incision followed by identification and sectioning of the filum. Postoperatively, no bed rest was required. Prior to introducing ILA, we had used standard one level laminectomy/laminotomy (LL) with more than 1 week of postsurgical bed rest until 2007, providing an adequate control group for the benefit of the ILA. A total of 49 consecutive patients were treated using ILA. While 37 patients were treated using LL. Surgical complications that need surgery were seen only in one patient, who developed cerebrospinal fluid (CSF) leak in LL patients. No retethering or additional neurological symptoms were seen during follow-up. All patients complained of minimal postsurgical back pain, but no patients required postoperative bed rest in ILA patients, while LL patients need postsurgical bed rest because of back pain. The ILA strategy provides the advantage of a minimal tissue injury, associated with minimal postoperative pain, blood loss, and bed rest.

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