Division of Pediatric Neurology, Giresun Maternity and Children Hospital, Faculty of Medicine, Giresun University, Teyyaredüzü mh. Atatürk Bulvarı No: 335 Merkez, Giresun, Turkey.
Arch Pediatr. 2022 Aug;29(6):434-438. doi: 10.1016/j.arcped.2022.05.007. Epub 2022 Jun 12.
Neurofibromatosis type 1 (NF-1) is the most common neurocutaneous syndrome with an autosomal dominant inheritance. However, half of the cases are de novo mutations. Involvement of bone, skin (cafe au lait macules), as well as ocular and tumoral formations is also associated with NF-1. Here, we present our case series of patients with bone deformities.
The medical files of patients with NF-1 who were followed up by the same doctor in the pediatric neurology outpatient clinic over 2 years were retrospectively analyzed.
Overall, 19 girls and 13 boys were diagnosed with NF-1. Of these 32 patients, 12 (nine girls, three boys) were found to have bone pathologies. The average age was of these patients with bone pathology was 7.5 and 9.5 years. Scoliosis, bowing, short stature, and long bone cysts were found in descending order of frequency. Severe adhesions in the hands and feet as well as phalangeal hypoplasia were noted in one patient.
NF-1 requires a multidisciplinary approach. Routine follow-up is very important as it is known that deformities that affect different systems may appear or increase with age. Severe hand and foot anomalies seen in one of our patients did not seem to be associated with NF-1.
神经纤维瘤病 1 型（NF-1）是最常见的神经皮肤综合征，呈常染色体显性遗传。然而，有一半的病例是新生突变。骨、皮肤（咖啡牛奶斑）以及眼部和肿瘤形成也与 NF-1 有关。在这里，我们报告了一系列骨畸形患者的病例。
对在 2 年内由同一位医生在儿科神经科门诊随访的 NF-1 患者的病历进行回顾性分析。
总共诊断出 19 名女孩和 13 名男孩患有 NF-1。在这 32 名患者中，有 12 名（9 名女孩，3 名男孩）发现有骨骼病变。这些患有骨骼疾病的患者的平均年龄为 7.5 岁和 9.5 岁。脊柱侧凸、弯曲、身材矮小和长骨囊肿的发生率依次降低。一名患者的手和脚有严重粘连以及指骨发育不良。
NF-1 需要多学科的方法。常规随访非常重要，因为已知可能会出现或随年龄增长而增加影响不同系统的畸形。我们的一个患者出现的严重的手足畸形似乎与 NF-1 无关。
