An 8-year-old female with neurofibromatosis type 1 was admitted to the inpatient service with emesis and mild dehydration. During her admission, she received IV antibiotics and improved enough to take appropriate fluids and was sent home.
The pertinent physical exam showed normal vital signs except for a respiratory rate of 28. She had small hamartomas of the irises, axillary freckling and 8 cafe-au-lait spots on the trunk that were more than 0.5 cm in size. There were no neurofibromas. She had decreased breath sounds with crackles bilaterally at the lung bases. The diagnosis of resolving pneumonia and neurofibromatosis was made. During rounds the medical student who was taking care of her asked what types of tumors patients with neurofibromatosis were at risk for. The residents and attending came up with neurofibromas, optic nerve and nerve sheath tumors but weren’t sure about the exact types. They also weren’t sure about malignant tumor types. The attending worked with the medical student to help perform a literature search and the next day the medical student presented his answers to the group at rounds.
Neurofibromatosis Type 1 (NF1) is one of many neurocutaneous diseases with a probable underestimated incidence of 1:3000. Also called phacomatoses, a review can be found at: What is the Epidemiology and Genetics of the Major Phacomatoses?
The key elements of NF1 are:
- Neurofibromatosis Type 1
- Epidemiology: 1:2500-3000 – most common phacomatosis
- Genetics: autosomal dominant with variable penetrance, associated with chromosome 17
- Neurological: various central nervous system tumors especially neurofibromas (often benign but may act malignant because of location or size, tumors may also degenerate into a malignant variant or cause other problems such as hypothalamic problems secondary to an optic chiasm tumor), optic nerve tumors, pheochromocytomas, mental retardation
- Dermatological: neurofibromas, cafe-au-lait spots
- Other clinical features: Lisch nodules of eye, other congenital anomalies may be associated including bone (rib, vertebra) and renal artery stenosis.
- Radiological features: lesions tend to be more scattered in brain and more peripheral than tuberous sclerosis
Patients with NF1 may have a variety of health problems including:
- Attention deficit disorder
- Benign and malignant neoplasms
- Learning problems
- Life span decreased by approximately 8 years
- Orthopaedic problems – including osteoporosis and scoliosis, see also How Common Are Skeletal Problems in Patients with Neurofibromatosis?.
- Short stature overall, precocious puberty occurs in a minority of patients.
- Vascular lesions especially in the CNS
- Vitamin D deficiency
The most common tumors in patients with NF1 are benign neurofibromas which can affect any organ of the body. Plexiform neurofibromas can be more diffuse and locally invasive in NF patients. The next most common neoplasms are optic nerve gliomas and brain tumors particularly gliomas, and astrocytomas of the brain stem or cerebellum, and dumbbell-shaped spinal cord tumors. Malignant peripheral nerve sheath tumors are a common cause of early death.
Other tumors that NF patients are at increased risk for include:
Questions for Further Discussion
1. What is included in the differential diagnosis of neurofibromatosis?
2. How is type 2 NF different from type 1 NF?
3. What health supervision should be provided to a school age patient with NF1?
- Disease: Neurofibromatosis
- Symptom/Presentation: Pain
- Age: School Ager
To Learn More
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Hersh JH; American Academy of Pediatrics Committee on Genetics. Health supervision for children with neurofibromatosis. Pediatrics. 2008 Mar;121(3):633-42.
Pletcher BA. Type 1 Neurofibromatosis. Medscape.
Available from the Internet at http://emedicine.medscape.com/article/1177266-overview (rev. 2/6/12, cited 7/25/13).
Friedman, JM. Neurofibraomtosis 1. GeneReviews.
Available from the Internet at http://www.ncbi.nlm.nih.gov/books/NBK1109/ (rev. 5/3/12, cited 7/25/13).
ACGME Competencies Highlighted by Case
1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
4. Patient management plans are developed and carried out.
6. Information technology to support patient care decisions and patient education is used.
10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.
12. Evidence from scientific studies related to the patients’ health problems is located, appraised and assimilated.
13. Information about other populations of patients, especially the larger population from which this patient is drawn, is obtained and used.
14. Knowledge of study designs and statistical methods to appraisal clinical studies and other information on diagnostic and therapeutic effectiveness is applied.
15. Information technology to manage information, access on-line medical information and support the healthcare professional’s own education is used.
16. Learning of students and other health care professionals is facilitated.
19. The health professional works effectively with others as a member or leader of a health care team or other professional group.
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa Children’s Hospital