Research ArticleOriginal Article
Open Access

Clinical spectrum of neurofibromatosis type 1 among children in a tertiary care center

Fahad A. Bashiri, Lama R. AlZamil and Rawan A. Aldhuwayhi
Neurosciences Journal October 2020, 25 (5) 375-379; DOI: https://doi.org/10.17712/nsj.2020.5.20200081

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Tables

  • Table 1

    Descriptive statistics of the diagnostic criteria for NF1 (n=50).

    Diagnostic criterian (%)
    ≥6 Café-au-lait macules45 (90)
    Skin-fold freckling17 (34)
    ≥2 Neurofibroma6 (12)
    ≥1 Plexiform neurofibroma12 (24)
    ≥2 Iris Lisch nodules21 (42)
    Optic pathway glioma17 (34)
    Osseous distinctive lesions
    Thinning of the long bone cortex (-/+ pseudarthrosis)1 (2)
    History of first-degree family with NF121 (42)
    Father13 (26)
    Mother9 (18)
    Sibling15 (30)
  • Table 2

    Associated signs and symptoms of NF1 (n=33).

    Signs/symptomsn (%)
    Scoliosis9 (27.3)
    Epilepsy7 (21.2)
    Headache5 (15.2)
    Visual impairment5 (15.2)
    Intellectual disability6 (18.1)
    Macrocephaly3 (9.1)
    Cardiac disease2 (6.1)
    Central nervous system malformations2 (6.1)
    Leg length discrepancy2 (6.1)
    Neurofibromatosis-Noonan syndrome2 (6.1)
    Learning disabilities2 (6.1)
    Pseudarthrosis1 (3)
    Hypertension1 (3)
    Precocious puberty1(3)
    Short stature6 (18.1)
  • Table 3

    Neuroradiological features.

    Radiological testingn (%)
    Brain CT scan11 (22)
    Brain MRI46 (92)
    Hyperintensities on T2WI*30 (60)
    Tumor types identified, n=30n (%)
    Non-neoplastic tumors4 (13.3)
    Neoplastic tumors
    Benign
    Hamartoma4 (13.3)
    Schwannoma2 (6.6)
    Malignant
    Optic pathway glioma17 (56.6)
    Intracranial Tumors (Astrocytoma and glioma)3 (10)

    • ↵* T2WI - T2-weighted image.

  • Table 4

    Tumor characteristics of pediatric patients with NF1 (n=30).

    Type of tumorAge (years)Age at diagnoses (years)Locations
    Cutaneous neurofibromas (n=4)
    Female1810Right foot
    Male31Trunk, buttock
    Male81Right arm
    Female135Back
    Schwannoma (n=2)
    Female1410Cervical (C1- C7)
    Male81Brain
    Hamartoma (n=4)
    Female1813Brain
    Male132Brain
    Female13Brain
    Male8Not documentedBrain
    Pilocytic astrocytoma (n=1)
    Female158Brain (posterior fossa)
    Brainstem Glioma (n=1)
    Female1313Brain (brainstem)
    Low-grade astrocytoma (n=1)
    Male17Not documentedBrain (frontal lobe)
    Optic Pathway Glioma (n=17)
    Male11Bilateral (n= 9)
    Female6Unilateral (n=8)
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