0521779407-15 CUNY1086/Karliner 0 521 77940 7 June 7, 2007 18:43
1044 Neurofibromatosis
Calcifying subperiosteal hematomas (s/p trauma) can
mimic neoplasia.
Cranial
Hypoplasia of wing of sphenoid bone (5–10%)
➣First-degree relative with NF-1
NB: Diagnostic criteria do not provide insight into severity or prognosis.
Diagnosis can be made in 95% of cases by age 11 years.Other Problems in NF-1
■Brain Problems
➣Astrocytomas most common tumors
➣Meningiomas
➣Head circumference often large compared with height and
weight
➣MRI – Unidentified bright objects
Unrelated to learning disabilities
Frank mental retardation (IQ < 70) in 4–8%
■Other eye problems
➣Enlarged corneal nerves
➣Congenital glaucoma
➣Optic nerve gliomas
About 15% of NF-1
Develop by age 10
Associated with precocious puberty
■Hypertension (2–5%)
➣Look for pheochromocytoma, renal artery stenosis, NFs around
the kidneys, Wilms’ tumor, coarctation of aorta.
■GI problems
➣Constipation frequent complaint
➣Abdominal dyspepsia and angina
➣Carcinoid tumors
➣Obstruction, ischemia, perforation
■Arterial Lesions
➣Intramural Schwann cell proliferation in large arteries leads to
aneurysmsNF-2
■Central NF
■Bilateral VIII n. masses (acoustic neuromas)
■Meningiomas, gliomas, schwannomas
■Juvenile posterior subcapsular lenticular opacities