Neurofibromatosis, a Common but Unpredictable Inherited Disorder


Jaishri Blakeley, left, and Lori Jordan say their work with patients and families is equal parts education and medical management.

Neurofibromatosis badly needs a PR campaign. Ask most people to name a disease that’s passed from parent to child and their response is likely to be cystic fibrosis, muscular dystrophy, sickle cell anemia, Tay-Sachs disease—any or all of these pop to the front of the mind.

But not neurofibromatosis. Yet NF, as it’s also known, is among the most common inherited disorders, affecting more kids than cystic fibrosis. One in 3,500 children, roughly half of all people who develop NF, get it from their parents.

NF is an extraordinarily challenging disorder for neurologists to treat, partially because it’s so unpredictable. NF wreaks havoc on nerve tissue, and NF-1, which accounts for 90 percent of NF cases, can be involved with everything from bone deformities to brain tumors. It’s also a capricious disorder: Parents with NF who have nothing more than a few light “café-au-lait” brown spots on their skin can bear children who have exactly their mild symptomology or an exacerbated version of NF that may cause scoliosis, learning disorders, early or delayed puberty, blindness, disfigurement. The list is staggering.

This wide range of potential outcomes makes comprehensive and continuous care a must, which is where Johns Hopkins’ Comprehensive Neurofibromatosis Center comes into play. Directed by neurologist Jaishri Blakeley and staffed by pediatric neurologist Lori Jordan, and neurosurgeon Allan Belzberg, the monthly clinic is a one-stop shop for NF care.

“Sometimes we see an affected parent and multiple children,” says Jordan, who treats pediatric patients and transfers them to Blakeley when they reach adulthood. “These families have all their records in one place, and in one half-day, the entire family can be seen. Coming to the center allows families to streamline their healthcare.”

Although two-thirds of NF-1 cases are mild, many parents, especially after a trip around the Internet, come in fearing the worst for their child. “A lot of what we do is examine the child and talk about what we find,” Jordan says. “Most of the time, the child is doing well.”

While there’s currently no cure for NF, regular visits can limit the impact of emerging physical and mental issues, and Jordan impresses upon parents that continued vigilance is important, even in mild cases. By catching scoliosis early, for example, “you can intervene surgically before it causes major complications,” she says.

For more severe cases where tumors grow along nerves, Blakeley, who specializes in neuro-oncology, works with Allan Belzberg to perform microsurgeries that can reduce pain and functional impairment. Blakeley’s medical management of a patient’s tumors are critical. Although most NF tumors are benign—and there can be hundreds of such tiny tumors in severe cases—there’s still a 5 percent to 10 percent risk that some may turn malignant.

Blakeley is also researching drugs to combat NF-2, the rarer form of the disease that mainly attacks the central nervous system and currently can only be treated surgically. The work has other potential applications as well. NF, she says, “is a very predictable model for studying nerve structure and changes in structure that happen during neuropathic pain,” especially pain that occurs after nerve resection. That work has the backing of a Department of Defense grant, which Blakeley says isn’t surprising, because “it matters hugely to soldiers who have so-called phantom pain after amputation.”

Controlling amputation pain by studying NF? Now there’s something worthy of a press release.