伴有肋骨侵入椎管的Ⅰ型神经纤维瘤病营养不良型脊柱侧后凸的手术治疗

【摘要】 目的：探讨对伴有肋骨侵入椎管的Ⅰ型神经纤维瘤病营养不良型脊柱侧后凸（neurofibromatosis kyphoscoliosis type 1,NFK-1）患者行单纯后路矫形手术的安全性和早期临床治疗效果。方法：2003年2月~2013年4月共收治8例伴肋骨侵入椎管的Ⅰ型神经纤维瘤病患者,男6例,女2例;年龄7~24岁,平均12.9岁。所有病例肋骨侵入椎管内节段均在侧凸顶点附近1个椎体节段,术前肋骨椎管占位比平均32.86%。其中7例接受单纯后路矫形融合术,1例接受生长棒矫形,均未对突入椎管内肋骨进行直接干预。回顾性分析患者术前、术后及随访时的X线片、CT、脊髓造影后CT（CTM）或MRI,对侧后凸Cobb角、躯干偏移等参数进行测量和分析;同时复习病历,记录围手术期的并发症。结果：手术时间平均为3.3h,术中出血量平均为460ml。固定节段平均为10.1个节段。手术前后胸段冠状面Cobb角分别为67.00°和34.38°,平均矫形率为48.7%。矢状面Cobb角分别为62.50°和31.25°,平均矫形率为49.9%。平均随访时间22.9个月,末次随访时主胸弯冠状面Cobb角及矢状面Cobb角分别为35.75°和33.38°。手术前、后及随访时冠状面躯干平衡分别为35.88mm、15.63mm和14.00mm;矢状位躯干平衡分别为35.13mm、18.13mm和15.50mm。手术前、后椎体旋转度分别为2.25°和1.88°,顶椎偏距分别为49.38mm和35.81mm。7例患者术后复查CT肋骨椎管占位比由术前33.36%减小为术后26.57%;2例肋骨位置未见明显变化,5例肋骨不同程度复位。2例患者术前有胸痛症状,术后胸痛症状均缓解;1例术前右下肢巴氏征（+）、踝阵挛（+）,术后3个月随访病理征转阴性,无神经系统并发症。结论：对于无神经损害症状伴有肋骨侵入椎管内的Ⅰ型神经纤维瘤病脊柱侧后凸患者,对胸段脊柱直接矫形是安全、有效的。     

Severe Thoracic and Spinal Bone Abnormalities in neurofibromatosis type 1

Neurofibromatosis type 1 (NF1) is an autosomal dominant, multi-system, neurocutaneous disorder that predisposes to the development of benign and malignant tumors. Classical skeletal abnormalities encompass sphenoid wing dysplasia, congenital bowing of the long bones and vertebral osteopathy associated with non-dystrophic or dystrophic scoliosis found in about 10% of NF1 patients. We report a 17-year-old boy affected by NF1 with extreme severe spinal and thoracic malformations affecting bone and lung tissues, including hypoplasia of the right lung, unilateral costal agenesis and severe dystrophic scoliosis characterized by association of hemivertebra, fusion of adjacent vertebral bodies and defective pedicles. At birth, he presented an acute respiratory distress requiring invasive ventilator support. The diagnosis of NF1 was confirmed at age 5 by the identification of a de novo heterozygous mutation c.4537C > T, p.Arg1513* in NF1. Trio-based Whole Exome Sequencing (WES) was performed to exclude coexistence of a second hit but no clearly other pathogenic variant has been identified. Until now, only one similar NF1 patient suffering from the same association of severe scoliosis and chest deformity leading to respiratory insufficiency was described. The severe prenatal NF1-related scoliosis could explain the lung abnormal development by absence of mechanical constraints. Severe Thoracic and Spinal Bone Abnormalities may be part of the NF1 bone phenotype and should be taken into account to allow adequate genetic counseling.     

Treatment of sphenoid dysplasia with a titanium-reinforced porous polyethylene implant in orbitofrontal neurofibroma: Report of three cases

Orbital manifestations occur in less than 1% of patients with neurofibromatosis type 1 (NF1). These manifestations are frequently associated with sphenoid wing dysplasia. The typical radiologic feature is partial or total loss of the greater wing of the sphenoid bone, which leads to herniation of the temporal lobe through the orbital cavity resulting in proptosis and pulsating exophthalmos. Traditional reconstruction of this bone defect involves split bone grafting or titanium mesh. However, these techniques have some limitations due to bone resorption and infection risk. We report the use of 0.85 mm titanium-reinforced porous polyethylene implant sheet in three cases of orbital neurofibromatosis with sphenoid dysplasia. The role of this material was to create a barrier between the brain and orbital cavity. The implant sheet was modeled intraoperatively to reconstruct the orbital cavity anatomy and fitted without any screws. The malleability of the implant allows quick reconstruction of the curved orbital skeleton. Furthermore, the implant doesn't interfere with postoperative imaging and may decrease risk infection.     

Richards-Rundle syndrome,cochleovestibular dysfunction and neurofibromatosis in a family

Summary The Richards-Rundle syndrome (RRS) is characterized by hearing loss, mental deterioration, ataxia, primary hypogonadism and autosomal recessive transmission. In a sibship of six members we found two sisters with RRS together with baldness, impaired GH and PRL secretion after stimulation and different degrees of impaired insulin secretion. Cochleovestibular investigation of the sibship revealed in each subject more or less severe forms of bulbo-pontine cochleovestibular dysfunction. Three members of the same sibship had cutaneous signs of abortive forms of neurofibromatosis: the son of one of these subjects had a severe form of fully developed neurofibromatosis. Whether there is a pathogenetic linkage between the hereditary multisystemic degeneration (RRS), the dysembryopathy (neurofibromatosis) and the cochleovestibular dysfunction in this family is still not clear.

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Zusammenfassung Das Richards-Rundel-Syndrome (RRS) ist durch Gehörstörung, psychischen Abbau, Ataxie und primären Hypogonadismus charakterisiert und wird autosomal rezessiv vererbt. Unter sechs Geschwistern fanden wir zwei Schwestern mit dem RRS und zusätzlich Kahlheit, verminderter GH und PRL Sekretion nach Stimulierung sowie in unterschiedlichem Ausmaß auch eine verminderte Insulinsekretion. Eine Untersuchung des cochleovestibulären Apparates bei allen Geschwistern zeigte bei jedem mehr oder weniger ausgeprägte, bulbopontin lokalisierte cochleovestibuläre Funktionstörungen. Drei Mitglieder der gleichen Geschwisterschaft hatten Hautsymptome einer abortiven Neurofibromatose und der Sohn eines der Geschwister hatte eine schwere Form dieser Krankheit. Es bleibt allerdings noch offen, ob ein pathogenetischer Zusammenhang zwischen der erblichen multisystemischen Degeneration des RRS, der Dysembriopathie Neurofibromatose und der cochleovestibulären Funktionsstörung in der hier beschriebenen Familie besteht.

     

Gyrification,cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities

Background

Neurofibromatosis type 1 (NF1) is a monogenic disorder associated with cognitive impairments. In order to understand how mutations in the NF1 gene impact brain structure it is essential to characterize in detail the brain structural abnormalities in patients with NF1. Previous studies have reported contradictory findings and have focused only on volumetric measurements. Here, we investigated the volumes of subcortical structures and the composite dimensions of the cortex through analysis of cortical volume, cortical thickness, cortical surface area and gyrification.

Methods

We studied 14 children with NF1 and 14 typically developing children matched for age, gender, IQ and right/left-handedness. Regional subcortical volumes and cortical gyral measurements were obtained using the FreeSurfer software. Between-group differences were evaluated while controlling for the increase in total intracranial volume observed in NF1.

Results

Subcortical analysis revealed disproportionately larger thalami, right caudate and middle corpus callosum in patients with NF1. Cortical analyses on volume, thickness and surface area were however not indicative of significant alterations in patients. Interestingly, patients with NF1 had significantly lower gyrification indices than typically developing children primarily in the frontal and temporal lobes, but also affecting the insula, cingulate cortex, parietal and occipital regions.

Conclusions

The neuroanatomic abnormalities observed were localized to specific brain regions, indicating that particular areas might constitute selective targets for NF1 gene mutations. Furthermore, the lower gyrification indices were accompanied by a disproportionate increase in brain size without the corresponding increase in folding in patients with NF1. Taken together these findings suggest that specific neurodevelopmental processes, such as gyrification, are more vulnerable to NF1 dysfunction than others. The identified changes in brain organization are consistent with the patterns of cognitive dysfunction in the NF1 phenotype.     

神经纤维瘤病的临床X线表现

本文报告了28例神经纤维瘤病,其中男15例,女13例。发现本病的临床X线表现可涉及颅脑、脊髓、胸部、腹部、四肢和软组织系统。X线表现为不同形式和性质。文内讨论了本病多系统病变和合并多种肿瘤特点。     

Complex epileptic (Foix–Chavany–Marie like) syndrome in a child with neurofibromatosis type 1 (NF1) and bilateral (opercular and paracentral) polymicrogyria

The association of brain malformations and symptomatic epilepsy in the setting of neurofibromatosis type 1 (NF1) is rarely reported. When it occurs, patients can present clinically with infantile spasms, focal seizures, generalized tonic clonic seizures or atypical absences. We report on a 10-year-old (molecularly proven) NF1 girl manifesting a complex epileptic syndrome resembling the Foix–Chavany–Marie spectrum (also known as opercular syndrome) associated with bilateral (opercular and paracentral lobular) polymicrogyria (PMG). Anecdotal cases of unilateral PMG in the setting of NF1 have been described in association with other-than-opercular epileptic syndromes. The typical clinical opercular syndrome consisting in mild mental retardation, epilepsy and pseudobulbar palsy is usually associated to bilateral perisylvian PMG (BPP)
Conclusion: To the best of our knowledge, the complex epileptic syndrome hereby reported has not been previously recorded in the setting of NF1. In addition, the present girl manifested all the clinical features of an opercular syndrome but had an asymmetrical PMG (not a BPP).     

Renovascular disease and hypertension in children with neurofibromatosis

Neurofibromatosis type 1 (NF1) is associated with vascular lesions, such as renal artery stenosis, and secondary hypertension. The real prevalence is largely unknown, particularly in children. We observed 27 patients with NF1, mean age 12.8 years (range 4.2–24 years), for 2–10 years to assess the association of NF1 with vascular abnormalities and secondary hypertension. Patients were studied with angiography, 24-h blood pressure monitoring, a captopril test, and Doppler ultrasonography of aorta and renal arteries. The prevalence of hypertension was 18.5%; 61.5% of patients studied with angiography had vascular lesions, half of whom were apparently normotensive. However, they had abnormal 24-h blood pressure monitoring, which was a first sign of poor blood pressure control. Those patients with severe hypertension (11.1%) were successfully treated with percutaneous transluminal angioplasty (PTA); stenosis recurred in 2 of 3 patients after a 2-year follow-up period, and was responsive to drugs. We conclude that hypertension is a frequent complication of NF1 in pediatric patients, it is usually secondary to typical vascular lesions, and requires careful follow-up. Ambulatory blood pressure monitoring (24-h) is a sensitive method for detecting initial alterations of the blood pressure pattern. PTA may be an effective treatment in this condition. Received: 2 June 1999 / Revised: 1 November 1999 / Accepted: 1 November 1999