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Home , Neurofibromatosis

April 2008 • www.clinicalneurologynews.com Pediatric 17 Watch and Wait in Neurofibromatosis Type 1 Cases

BY DOUG BRUNK some families that have experienced ma- San Diego Bureau jor complications associated with NF1, and they are very interested in not passing L A J OLLA, CALIF. — Dr. Lynne M. the on to their children.” Bird believes the $1,500 gene sequencing A study of nearly 1,900 patients with test for neurofibromatosis type 1 in children NF1 found that the features of the disease is rarely necessary because it usually does typically appear in a characteristic order, not change clinical management. beginning with café au lait macules (Pe- She favors a watchful waiting approach diatrics 2000;105:608-14). in children who present with the hallmark Sometimes macules are present at birth symptom of at least six café au lait macules “but others will appear in the first few that are at least 5 mm in size, “and [I] wait months of life and certainly by the first for the second criterion to appear,” she said couple of years of age,” Dr. Bird said. at a meeting sponsored by Rady Children’s “Typically the next feature is axillary freck- Hospital and the American Academy of Pe- ling, which is usually evident in the school- diatrics. “I follow age child. Lisch these children as if I ‘Families should nodules will appear already knew they be told that gradually after that, had NF1, monitor- symptoms which followed by neu- Cafe au lait macules can appear at Axillary freckling is usually evident in ing them for poten- are not self- rofibromas as a birth or in the first months of life. school-age children. tial complications limited need to be sign that the child is without doing gene brought to your entering puberty.” ents [with NF1] are testing.” attention.’ Another clue is healthy; they just The prevalence the presence of the have spots and a few of neurofibromato- DR. BIRD Riccardi sign, a tuft lumps on their sis type 1 (NF1) is of hair along the skin.” IRD

1:3,000, making it the most common neu- back near the spine. “This sign will often The way to fol- M. B rocutaneous disorder in children. Diagno- be present at birth and may be there be- low children with sis is made if the child meets two of seven fore any of the café au lait macules show NF1 is to see them YNNE ONES . L R

criteria: café au lait macules; axillary or in- up, so you will look really smart if you regularly for a com- D guinal freckling; two or more neurofibro- make a tentative diagnosis upon seeing plete physical ex- C. J mas or one plexiform ; optic this,” Dr. Bird said. amination. There is ARILYN

nerve ; two or more Lisch nodules Optic glioma almost always appears by no way to screen . M R of the iris; a distinctive osseous lesion such 3 years of age “and certainly by 6 years of for every single D HOTOS COURTESY AND as pseudarthrosis or sphenoid wing dys- age,” she said. “In addition, there is frequent complication of P plasia; or a family history of the disease. thickening of the optic nerves, which is NF1 except by talk- The Riccardi sign, a tuft of hair near the spine, is often About of half of cases with no family asymptomatic and doesn’t cause disease.” ing to families, said present at birth and may precede other signs of NF1. history meet criteria for the disorder by 1 A rare feature of NF1 is juvenile xan- Dr. Bird, who is also year of age; 97% meet the criteria by 8 thogranuloma, which occurs in 1%-2% of with the department of pediatrics at the children who present with multiple café au years of age. cases. This skin lesion usually resolves University of California, San Diego. “Fam- lait macules. “There is no evidence that de- NF1 is an autosomal, dominantly in- spontaneously but is associated with an in- ilies should be told that symptoms which tecting optic before they’re symp- herited disorder due to in a creased incidence of juvenile myeloid are not self-limited need to be brought to tomatic translates into better outcome. So gene on , which encodes leukemia (JML). “When you see this you your attention,” she said. “If there is a you could argue that doing an MRI, which the protein neurofibromin, a tumor sup- want to at least do a complete blood count symptom that hangs on, that’s nagging and requires anesthesia, is not worth the mon- pressor. “Finding a of the gene and be thinking about JML, and maybe doesn’t go away in a reasonable amount of ey or the risk. I am not in the habit of get- would also allow you to make this diag- contact your local oncologist to see if time, they need to come in.” ting routine MRIs. I oblige for the families nosis,” said Dr. Bird of the division of ge- they have further recommendations for Basic follow-up tests should include who really want them.” netics and dysmorphology at Rady Chil- monitoring,” she advised. checking blood pressure and monitoring NF1 patients with have dren’s Hospital, San Diego. “If you have a In most cases, the diagnosis of NF1 is for as well as an ophthalmology a 10% lifetime risk of developing a malig- parent with NF1 and you can determine made on clinical exam, including a careful evaluation and an assessment of develop- nant peripheral with- their mutation through , evaluation of both parents. “This condition mental skills. “Learning disabilities are in one of the lesions. Signs of malignant then you can offer them prenatal diagno- is present in 1 in 3,000 in the general pop- common,” she said. “Expressive language degeneration include persistent pain, a sis. In my experience, most parents aren’t ulation, but I don’t see anywhere near the delay is the area of development most change in texture, a rapid increase in size, concerned enough about passing NF1 on equivalent number of kids in my clinic,” commonly affected.” or development of a neurologic deficit as- to their children that they would consid- Dr. Bird said. “That tells me there is a lot Many parents ask Dr. Bird if an MRI of sociated with the neurofibroma. er interrupting a pregnancy. But there are of undiagnosed NF1 out there. Most par- the brain and optic nerves is needed in Dr. Bird had no relevant disclosures. ■ Direct Ophthalmic Infusion Can Save Eyes

BY MIRIAM E. TUCKER rector of the Division of Inter- mg and infused in combination Of the 20 who completed treat- thy occurred in four patients, for Senior Writer ventional Neuroradiology at New with topotecan over a 30-minute ment (2 are still being treated), whom it was determined the dose York–Presbyterian Hospital and period. The dose was a function catheterization of the ophthalmic was too high and therefore was WASHINGTON — Direct in- Cornell University, New York. of the eye size, not body surface artery was possible in 18. Eleven lowered in subsequent patients. tra-arterial chemotherapy in chil- A total of 22 children aged 1 area, Dr. Gobin noted. patients underwent three treat- An inflammatory reaction during dren with advanced retinoblas- month to 10 years (median age 2 Eleven children had bilateral ments, 3 had two treatments, and the procedure predicted the de- toma preserved the eyes in 14 years) with advanced retinoblas- , with previous the rest had more treatments (up velopment of retinopathy, Dr. children and vision in 9 eyes, ac- toma in a total of 23 eyes under- enucleation of the contralateral to six). There were no procedure- Gobin noted. cording to research presented at went catheterization of the oph- eye in 5. Eleven had previously re- related complications in the total The tumors were cured in 16 the annual meeting of the Society thalmic artery via a femoral ceived intravenous chemotherapy, of 64 procedures. There were no of 18 patients, with 14 able to for Interventional Radiology. artery approach. The children and 8 had undergone external hospital admissions, infections, keep the eye in place and 9 with Without the treatment, all af- were anesthetized and anticoag- beam radiotherapy. Eleven pa- transfusions, or other complica- restored vision. Treatment failed fected eyes would have been des- ulated during the procedure. The tients were treatment naive. All tions commonly seen with intra- in two cases, including one in tined for enucleation, said Dr. chemotherapy agent melphalan but one had Reese-Ellsworth stage venous chemotherapy. which there was tumor growth. Pierre Gobin, professor of radi- was used initially in doses of 3.0- V; the remaining patient had a Transient skin discoloration oc- Dr. Gobin disclosed that he ology and and di- 7.5 mg, but later switched to 3.5 stage IB tumor on the macula. curred in two patients. Retinopa- had no conflicts of interest. ■