Diagnosis of sporadic neurofibromatosis type 2 in the paediatric population

Abstract

All non-vestibular schwannoma NF2 presentations in childhood had significant diagnostic delay. We emphasise the importance of detailed assessment of skin and eyes in unusual presentations and propose an aide to prompt timely referral to specialist services.

Trends in phenotype in the English paediatric neurofibromatosis type 2 cohort stratified by genetic severity

“…14 MRI anomalies were predominantly seen in group 3 patients, notably focal cortical dysplasia and cerebellar cortical dysplasia. 14 MRI anomalies were predominantly seen in group 3 patients, notably focal cortical dysplasia and cerebellar cortical dysplasia.…”

“…To raise paediatric awareness of NF2, we previously reported in detail the presenting features of the sporadic patients. 14 MRI anomalies were predominantly seen in group 3 patients, notably focal cortical dysplasia and cerebellar cortical dysplasia. The clinical significance of these features is uncertain but may suggest a role for Merlin in brain development.…”

“…3,[5][6][7] The severity spectrum ranges from incidentally detected disease in older adults, 8 to severe disease presenting in infancy. 7,[10][11][12][13][14] Younger age at first manifestation often indicates increased severity and poorer prognosis and survival. 7,[10][11][12][13][14] Younger age at first manifestation often indicates increased severity and poorer prognosis and survival.…”

“…9 While adults typically present with VS-related symptoms such as hearing loss or tinnitus 5 children predominantly present with non-vestibular manifestations related to eye or skin features, or signs suggesting a cranial nerve palsy (CNP), cranial meningioma or spinal tumour. 7,[10][11][12][13][14] Younger age at first manifestation often indicates increased severity and poorer prognosis and survival. 15 While NF2 presenting in later life may cause minor morbidity; childhood onset NF2 often needs frequent intervention, causes significant disability, and reduces quality and length of life.…”

Vestibular Schwannoma growth during pregnancy

“…The average age of symptom onset is 18 to 24 years and almost all affected individuals develop bilateral vestibular schwannomas by age 30 years. 1 Common features include tinnitus, hearing loss, balance dysfunction, as well as Bell's palsy if there is significant compression of the facial nerve. 2 There is evidence showing that pregnancy hastens the progression of vestibular Schwannomas, but literature and practice guidelines are lacking for the management during pregnancy.…”