Name
NEUROFIBROMATOSIS
DESCRIPTION
DETAIL
CAUSES β’ Congenital -------------------------------------------------------------------------- DIFFERENTIAL DIAGNOSIS . NF1: . Familial cafe-au-lait spots (autosomal dominant) - no other NF1 features . NF2: . Solitary acoustic neuroma (develops later in life and is not hereditary)LABORATORY TESTS: NONE DIAGNOSTIC PROCEDURES . NF1: . Dictated by findings and clinical evaluation . Slit lamp ocular exam . Radiology of skull and spine . Psychological testing . Characteristic x-ray findings such as sphenoid dysplasia, long bone cortical thinning, ribbon ribs, angular scoliosis (6%) . NF2: . Clinical examination: skin, eye, and hearing . Audiologic evaluation: brain stem evoked response (BAER) . Radiologic examination: MRI of head . When one or more of the following are present, the diagnosis of NF 2 is likely: - Bilateral vestibular schwannomas - Family history of NF 2, plus unilateral 8th nerve mass or family history and any two of the following: neurofibroma, meningioma, glioma, schwannoma, and juvenile posterior subcapsular lenticular opacity
TYPENOTES
RISK FACTORS: Family historyGENERAL MEASURES . Access to patient support groups . Referral of patient to National NF Organization, local and state chapters . NF1( NEUROFIBRAMOSIS-1) : . General outpatient follow-up of symptomatic patients for early identification of complications . Periodic exams with particular attention to CNS findings and close attention to any masses or focally arising new pain . Referral for psychosocial issues of family and affected individuals . Educational intervention for children with learning disabilities or ADHD (40%) . NF2 ( NEUROFIBROMATOSIS 2 ) : . Annual neurologic examination . Annual ophthalmologic exam . Annual hearing examination or more frequently as necessitated . Hearing augmentation as needed . Speech therapy as needed . Counseling and education regarding insidious problems associated with hearing loss, balance, or sense of direction SURGICAL MEASURES . NF1: Surgical treatment if indicated for scoliosis, plexiform neurofi bromata or malignancy . NF2: excision of tumor as indicated ACTIVIT: IN NF2 - Caution advised in swimming, diving, or climbing heights DIET No restrictions PATIENT EDUCATION . Genetic counseling and patient education regarding future complications and decisions about family planning DRUG(S) OF CHOICE . NF1: . Anticonvulsants: for seizure control . Stimulant medications: for attention deficit hyperactivity disorder (ADHD) PATIENT MONITORING . Annual evaluation and periodic assessment for at risk individuals PREVENTION/AVOIDANCE . Genetic counseling POSSIBLE COMPLICATIONS . NF1: . Disfigurement: skin neurofibromata develop primarily on exposed areas . Scoliosis: common: most cases mild . CNS: A large head is common but rarely associated with hydrocephalus. Optic glioma or other CNS tumors arise usually during childhood (5-10%). . Learning disability: common; often diagnosed upon entering school. May be associated with attention deficit hyperactivity disorder (ADHD). . Rare Complications: - Mental retardation - Epilepsy - Hypertension - Variable onset of puberty - Slightly higher risk for malignancy (e.g. Wilms, leukemia, rhabdosarcoma) EXPECTED COURSE/PROGNOSIS . NF1: Variable; most patients have a mild expression and lead normal lives . NF2: Variable
RELATED DISEASE
Not Available Disease
DISEASE
INVESTIGATION
COMPLETE BLOOD COUNT, MRI, CT SCAN, X-RAY, BIOPSY