Comparison between surgical fusion and the growing-rod technique for early-onset neurofibromatosis type-1 dystrophic scoliosis

OBJECTIVEEarly-onset scoliosis (EOS) is not uncommon in patients with neurofibromatosis type 1 (NF1). Despite conservative treatment, spinal deformities progress and require early surgical intervention. To avoid potential interference with chest and trunk growth, growing rods (GRs) have been used effectively in EOS of various etiologies. In this study the authors sought to analyze the outcomes of GRs in EOS patients with NF1.METHODSThis was a retrospective single-center cohort study that included consecutive EOS patients with NF1 who were treated with GRs and were followed up for a minimum of 2 years. Clinical and radiological analyses were performed preoperatively and until the last follow-up.RESULTSFrom to 2008 to 2017, 18 patients (6 male, 12 female) underwent GR surgery (14 single GRs, 4 dual GRs) at a mean age of 8 ± 2.1 years. Mean follow-up was 5 ± 2.4 years. Fifty-five lengthenings were performed at a mean rate of 3 lengthenings per patient (range 0–7). Ten of 14 single GRs (71%) were converted into dual GRs during treatment. No patient underwent definitive posterior spinal fusion (PSF) at GR treatment completion. The mean initial and last follow-up major curves were 57° and 36°, respectively (p < 0.001, 37% correction). The average T1–S1 increase was 13 mm/yr. Six of 9 hyperkyphotic patients had normal kyphosis at last follow-up. There were 26 complications involving 13 patients (72%), with 1 patient who required unplanned revision. The primary complications were instrumentation related, consisting of 17 proximal hook dislodgments, 6 distal pedicle screw pullouts, and 2 rod fractures. Only 1 patient experienced a mechanical complication after dual GR implantation. There were no wound infections.CONCLUSIONSThe GR technique provided satisfactory spinal deformity control in EOS patients with NF1 while allowing substantial spinal growth. Adequately contoured dual GRs with proximal hooks placed in nondystrophic regions should be used to minimize implant-related complications. Surgeons should not attempt to correct kyphosis at GR implantation.

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Identification of NF1 Frameshift Variants in Two Chinese Families With Neurofibromatosis Type 1 and Early-Onset Hypertension

Frontiers in Pediatrics ◽

10.3389/fped.2021.785982 ◽

2021 ◽

Vol 9 ◽

Author(s):

Yi-Ting Lu ◽

Di Zhang ◽

Xin-Chang Liu ◽

Qiong-Yu Zhang ◽

Xue-Qi Dong ◽

...

Keyword(s):

Blood Pressure ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Neurofibromatosis Type 1 ◽

Early Onset ◽

Family Members ◽

Neurofibromatosis Type ◽

Chinese Families ◽

Whole Exome

Background: Neurofibromatosis type 1 (NF-1) is a common autosomal dominant disorder caused by mutations in the NF1 gene. It is characterized by multiple café-au-lait macules, cutaneous neurofibromas, optic glioma, Lisch nodules, and axillary and inguinal freckling. The aim of this study was to investigate NF1 mutations in two Chinese families with NF-1 who presented with early-onset hypertension, and to determine the prevalence of hypertension associated with NF-1 to better understand this complication.Methods: Whole-exome sequencing was performed for the probands with NF-1 from two unrelated families. Possible pathogenic mutation was predicted by bioinformatic tools. Sanger sequencing was used to confirm candidate variants in all available individuals for familial co-segregation analysis. We also performed a systematic literature review of studies that reported the prevalence of hypertension in patients with NF-1.Results: In family 1, a recurrent mutation c.6789_6792delTTAC in NF1 was identified in the proband but in no other family members, indicating that this is a de novo mutation. In family 2, a novel mutation c.6934_6936delGCAinsTGCT in NF1 was detected in the proband and two other family members, which co-segregated with the disease phenotype within the family. Both mutations were predicted to be pathogenic by bioinformatic analysis. We found hypertension was a relatively common complication of NF-1, with a prevalence range of 6.1–23.4%. Ambulatory blood pressure monitoring is a stable method for detecting initial alterations of the blood pressure pattern, particularly for pre-hypertension.Conclusions: We identified one recurrent (c.6789_6792delTTAC) and one novel frame-shift mutation (c.6934_6936delGCAinsTGCT) in two unrelated families with NF-1 using whole-exome sequencing. In consideration of phenotypic heterogeneity in NF-1, genetic testing is a robust tool which helps early and accurate diagnosis. Because hypertension is not a rare complication of NF-1, routine screening for hypertension in patients with NF-1, especially children and adolescents, is important to avoid serious cardiovascular events.

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