Analysis of Neurofibromatosis Type 1 (NF1) Children and Adolescents? Weight, Length and Head Circumference - A Cross-Sectional Study

Ribeiro, Márcia Gonçalves; Coutinho, Marcelo P

doi:10.4172/2376-0427.1000182

Cited by 3 publications

(2 citation statements)

References 14 publications

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“…35 A Brazilian study where physical parameters of children and adolescents with NF1 were plotted on the growth charts identified 3.7% of underweight patients and 17.1% of short stature in the pediatric age group with NF1. 36 Our work differed from those above, since most of our sample presented eutrophy (89% with z -score ⩾ -2 and z -score < +1).…”

Section: Discussioncontrasting

confidence: 76%

Determination of Vitamin D Levels in Patients With Neurofibromatosis Type 1 in the Pediatric Age Group

Santos

Geller

Mezitis

et al. 2020

Clin Med�Insights�Pathol

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Introduction: Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic disorders. Some clinical manifestations are present at birth, while some develop during childhood, and others can occur at any age. Given the early age at which patients develop clinical features, diagnosis is often made during childhood. The most prevalent features of NF1 are café au lait spots, dermal and plexiform neurofibromas, and learning disability. A variety of skeletal problems may be seen in NF1, including scoliosis, short stature, and pseudoarthrosis. Reduced skeletal bone mass has been documented to be a common phenomenon in children and adults with NF1. Decreased serum 25-hydroxyvitamin D (vitamin D) levels have been noted in adults and children with NF1 and have been reported to be inversely correlated with the number of dermal neurofibromas in adults. However, the actual correlation of vitamin D level to bone density and dermal neurofibroma number in children with NF1 remains unclear. Objectives: The primary objective of this study was to evaluate vitamin D levels among children and adolescents with NF1. The secondary objective was to describe the levels of vitamin D among children and adolescents with NF1, to verify in which age group there is a higher frequency of vitamin D alterations, and to explore vitamin D level correlations between age, gender, sun exposure, number of neurofibromas, and number of plexiform neurofibromas. Methods: This was an observational, cross-sectional, hospital-based study. We obtained a convenience sample of individuals with confirmed diagnosis of NF1 from patients attending the Medical Genetics Service of the IPPMG-UFRJ and Santa Casa de Misericórdia of Rio de Janeiro over a 24-month period. We evaluated vitamin D levels in blood samples of patients with NF1 by a chemiluminescent immunoassay method, and we correlated the results with gender, age, number of neurofibromas, number of plexiform neurofibromas, and satisfactory sun exposure. Results: Of the 55 patients, 28 (50.9%) were female and 27 (49.1%) were male. Patient ages ranged from a minimum of 1.2 to a maximum of 19.6 years (mean age 10.95 years) and the median was 11.11 years. Median and mean body mass index (BMI; z score) were -0.09 (minimum value -1.63 and maximum of 4.62) and 0.16, respectively. The mean value of vitamin D was 30.82 ng/mL (±12.31) and the median was 29 ng/mL (minimum value of 10.40 ng/mL and maximum of 79.19 ng/mL). Conclusions: The levels of vitamin D did not differ according to gender, age group, or the presence or number of cutaneous neurofibromas. Among patients with adequate sun exposure, there was a higher incidence of sufficient serum vitamin D levels. Patients with cutaneous neurofibromas in the 0 to 11 age group had a greater tendency to vitamin D sufficiency in relation to patients aged 11 to 19 years.

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Section: Discussioncontrasting

confidence: 76%

Determination of Vitamin D Levels in Patients With Neurofibromatosis Type 1 in the Pediatric Age Group

Santos

Geller

Mezitis

et al. 2020

Clin Med�Insights�Pathol

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“…There are few studies that investigated head circumference and anthropometric characteristics of NF1 individuals, and most were conducted in children or included children and adults in the same sample. There are even fewer studies in the literature on WHR in these population [7,20,21,24,[26][27][28][29][38][39][40]. Therefore, we aimed to evaluate head circumference, height, weight, BMI, head circumference-to-height ratio (HCHR) and WHR in adult NF1 Brazilian individuals versus a paired control group and investigate their correlation with the number of Snf and the presence of a visible Pnf.…”

Section: Introductionmentioning

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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Children Born Small for Gestational Age: Differential Diagnosis, Molecular Genetic Evaluation, and Implications

et al. 2018

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Analysis of Neurofibromatosis Type 1 (NF1) Children and Adolescents? Weight, Length and Head Circumference - A Cross-Sectional Study

Cited by 3 publications

References 14 publications

Determination of Vitamin D Levels in Patients With Neurofibromatosis Type 1 in the Pediatric Age Group

Determination of Vitamin D Levels in Patients With Neurofibromatosis Type 1 in the Pediatric Age Group

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

Children Born Small for Gestational Age: Differential Diagnosis, Molecular Genetic Evaluation, and Implications

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