Neurological manifestations of neurofibromatosis type 1: our experience

Marco, S.B. Sánchez; Pisón, Javier López; Escribano, Carlota Calvo; Viejo, I. González; Gallart, M.D. Miramar; Villagrasa, Pilar Samper

doi:10.1016/j.nrleng.2019.05.008

Cited by 7 publications

(9 citation statements)

References 33 publications

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“…Nevertheless, evaluating sexes separately, the prevalence of macrocephaly was higher only in NF1 women compared with the controls [ 39 , 49 , 50 ]. The few studies that assessed the head circumference measurements in NF1 separately in males and females, showed that macrocephaly was more frequent in men, different from our results [ 40 , 50 , 55 , 56 ].…”

Section: Discussioncontrasting

confidence: 99%

Head circumference and anthropometric changes and their relation to plexiform and skin neurofibromas in sporadic and familial neurofibromatosis 1 Brazilian adults: a cross-sectional study

Basto

Vieira

Andrade-Losso

et al. 2022

Orphanet J Rare Dis

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Background Neurofibromatosis 1 (NF1) is a common autosomal dominant syndrome with complete penetrance and highly variable expressivity. The cutaneous neurofibroma (Cnf) and plexiform neurofibroma (Pnf), café-au-lait spots, and freckle-like lesions are common in NF1, but many other manifestations can occur. We aimed to evaluate head circumference, height, weight, body mass index (BMI), head circumference-to-height ratio (HCHR) and waist–hip ratio (WHR) in adult NF1 Brazilian individuals versus a paired control group and investigate their correlation with the presence of clinically visible Pnfs, and number of “skin neurofibromas” (Snf), which include both cutaneous and subcutaneous neurofibromas. Methods A case–control study was conducted with 168 individuals, 84 with NF1 and 84 without NF1, paired by sex and age. Head circumference and anthropometric measurements, Snf quantification, evaluation of clinically visible Pnf and familial inheritance were accessed. Results Prevalence of macrocephaly was significantly higher in NF1 women. Height and weight were significantly lower in both males and females with NF1. HCHR was higher in the NF1 group than in the control group for both sexes. BMI was significantly lower in men with NF1. Waist and hip circumferences were significantly reduced in NF compared with the controls, but the mean WHR was significantly lower only in NF1 women. No correlation was found between the Snf and head circumference and anthropometric measurements, sex or family history. The presence and larger size of clinically visible plexiform neurofibromas were associated with normal stature (p = 0.037 and p = 0.003, respectively). Conclusions NF1 individuals have increased prevalence of macrocephaly, short stature, low BMI, and reduced abdominal fat. There is no relation between head circumference and anthropometric data with family history, or neurofibromas.

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Section: Discussioncontrasting

confidence: 99%

Head circumference and anthropometric changes and their relation to plexiform and skin neurofibromas in sporadic and familial neurofibromatosis 1 Brazilian adults: a cross-sectional study

Basto

Vieira

Andrade-Losso

et al. 2022

Orphanet J Rare Dis

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“…Craniotomy was performed in cases 1 and 2 because of seizure, and the lesions were revealed to be whitish jelly-like masses, not arachnoid cysts; however, asymptomatic arachnoid cysts are usually not surgical targets. In NF1 patients, arachnoid cysts occur slightly more frequently than in healthy individuals 12 . Therefore, it cannot be ruled out that some asymptomatic lesions found in NF1 patients that are clinically regarded as arachnoid cysts may be the same lesions as those described in the present study.…”

Section: Discussionmentioning

confidence: 46%

“…Previously reported non-neoplastic manifestations of CNS including structural alterations in NF1 patients are as follows; focal abnormal signal intensities (also known as unknown bright objects); global increase in brain volume associated with macrocephaly; epileptogenic lesion, such as focal cortical dysplasia; obstructive hydrocephalus due to aqueductal stenosis; vascular malformation; sutural defect; skull bone defect; dural dysplasia; meningocele; sphenoid wing dysplasia; 11 Chiari malformation; arachnoid cyst; dilated Virchow-Robin space; and syringomyelia 12 …”

mentioning

confidence: 99%

Hyperplasia of Arachnoid Trabecular Cells

Maehara

Yamazaki

Kawabata‐Iwakawa

et al. 2023

American Journal of Surgical Pathology

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Central nervous system manifestations, a variety of benign and malignant tumors as well as non-neoplastic abnormalities, are found in over 70% of neurofibromatosis type 1 (NF1) patients. Herein, we report hitherto undescribed spaceoccupying lesions in the setting of NF1. We aimed to clarify their characteristics, especially whether they represent neoplastic or non-neoplastic (hyperplastic) lesions. All 3 cases were preoperatively assessed as non-neoplastic; 2 and 1 cases were suspected to be arachnoid cysts and dilation of subarachnoid space, respectively. However, all lesions were revealed to be whitish jelly-like masses by operation, and the histology composed of spindle cells resembling arachnoid trabecular cells with moderate cellularity and cellular uniformity gave an impression that these lesions may be neoplastic. In contrast, electron microscopic analysis showed that the characteristics of these cells were compatible with those of normal arachnoid trabecular cells. Furthermore, whole-exome sequencing and array comparative genomic hybridization did not show any obvious alterations suggestive of their neoplastic nature. DNA methylation analysis demonstrated that these lesions were epigenetically distinct not only from meningiomas but also from normal healthy meninges. In conclusion, considering the clinicopathologic aspects of the present lesions and the results of the molecular analysis that failed to suggest their neoplastic nature, they may represent previously unrecognized rare hyperplasia of arachnoid trabecular cells, which may be associated with NF1.

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“…Actually, the presence of a syndrome might justify the co-existence of CM1 and epilepsy because the syndrome itself can encompass a spectrum of neurological disorders including these two entities. In syndromes, seizures usually result from the syndrome-associated lesions, as happens, for example, in neurofibromatosis-1 [ 26 , 27 ], or from the brain damages included in the syndrome, as occurs, for example, in fetal alcohol spectrum disorders [ 28 ]. An association between CM1 and epileptogenic anomalies (e. g. focal cortical heterotopia, cortical dysplasia, holoprosencephaly) is proved outside syndromes [ 29 ].…”

Section: Discussionmentioning

confidence: 99%

Chiari 1 Malformation and Epilepsy in Children: A Missing Relationship

Massimi

Palombi

Contaldo

et al. 2022

JCM

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Purpose: Once believed a result of pathophysiological correlations, the association between Chiari 1 malformation (CM1) and epilepsy has since been considered as a coincidence, due to missing etiologic or clinical matching points. At present, the problem is being newly debated because of the increasing number of CM1 diagnoses, often among children with seizures. No specific studies on this topic are available yet. The present study aimed at updating the information on this topic by reporting on a series of children specifically enrolled and retrospectively analyzed for this purpose. Methods: All children admitted between January 2015 and June 2020 for epilepsy and CM1 were considered (Group 1). They were compared with children admitted in the same period for symptoms/signs related to CM1 and/or syringomyelia (Group 2). Syndromic patients were excluded, as well as those with tumoral or other overt intracranial lesions. All patients received a complete preoperative work-up, including MRI and EEG. Symptomatic children with CM1/syringomyelia were operated on. The pertinent literature was reviewed. Results: Group 1 was composed of 29 children (mean age: 6.2 years) showing CM1 and epilepsy with several types of seizures. A share of 27% had CM1-related symptoms and syringomyelia. The mean tonsillar ectopia was 7.5 mm. Surgery was performed in 31% of cases. Overall, 62% of children are currently seizure-free (including 5/9 children who were operated on). Tonsillar herniation and syringomyelia regressed in 4/9 cases and 4/8 cases, improved in 4/9 cases and 3/8 cases, and remained stable in 1/9 and 1/8 cases, respectively. CM1 signs/symptoms regressed completely in 6/8 cases and improved or remained stable in one case in each of the two remaining patients. Group 2 consisted of 77 children (mean age: 8.9 years) showing symptoms of CM1 (75%) and/or syringomyelia (39%). The mean tonsillar ectopia was 11.8 mm. Non-specific EEG anomalies were detected in 13 children (17%). Surgery was performed in 76.5% of cases (18 children were not operated on because of oligosymptomatic). Preoperative symptoms regressed in 26%, improved in 50%, remained stable 22%, and worsened in 2%; CM1 radiologically regressed in 39%, improved in 37%, remained unchanged in 22%, and worsened in 2%; and syringomyelia/hydromyelia regressed in 61%, improved in 30%, and was stable in 9%. No statistically significant differences between the two groups were detected regarding the M/F ratio, presence of syringomyelia/hydromyelia, or CM1/syringomyelia outcome; moreover, no correlation occurred between seizure-free condition and PF decompression in Group 1, or between disappearance of EEG anomalies and PF decompression in Group 2. A significant difference between the two groups was noticed regarding the mean age at admission (p = 0.003), amount of tonsillar herniation (p < 0.00001), and PF decompression (p = 0.0001). Conclusions: These findings do not support clinical correlations between CM1 and epilepsy. Their course depends on surgery and antiepileptic drugs, respectively. The analysis of the literature does not provide evidence of a relationship between seizures and cerebellar anomalies such as CM1. Rather than being linked to a syndrome that could explain such an association, the connection between the two now has to be considered to be random.

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Neurological manifestations of neurofibromatosis type 1: our experience

Cited by 7 publications

References 33 publications

Head circumference and anthropometric changes and their relation to plexiform and skin neurofibromas in sporadic and familial neurofibromatosis 1 Brazilian adults: a cross-sectional study

Head circumference and anthropometric changes and their relation to plexiform and skin neurofibromas in sporadic and familial neurofibromatosis 1 Brazilian adults: a cross-sectional study

Hyperplasia of Arachnoid Trabecular Cells

Chiari 1 Malformation and Epilepsy in Children: A Missing Relationship

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