What is Neurofibromatosis (NF1), the rare genetic disorder that affects children?

Health expert reveals all you need to know about Neurofibromatosis (NF1), the rare genetic disorder that affects children - its causes, diagnosis and treatment

Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a rare genetic disorder that primarily affects the nervous system and is a group of conditions in which tumours grow in the nervous system. According to health experts, there are six types of NF, where NF1 and NF2 are more common and in US about 1 in 3500 people have NF1 while 1 in 2500 people have NF2 and males and females are equally affected by the condition.

In an interview with HT lifestyle, Dr Sunil Kutty, Consultant Neuro Surgery at Apollo Hospitals in Navi Mumbai, shared, “It is characterised by the growth of tumours, called neurofibromas, which form on or under the skin, along nerves, and other parts of the body. NF1 is caused by mutations in the NF1 gene, which normally produces a protein called neurofibromin that helps regulate cell growth.”

Key features of NF1:

According to him, the key features of neurofibromatosis type 1 include:

• Bone abnormalities: Some individuals with NF1 might experience skeletal problems, including curvature of the spine (scoliosis) or thinning of the bones.
• Neurofibromas: These are benign (non-cancerous) tumors that can develop anywhere on or in the body, but they often appear on or under the skin. They can vary in size and may cause cosmetic concerns or discomfort depending on their location.
• Learning and developmental issues: Children with NF1 can face learning disabilities, attention deficits, and other cognitive challenges. However, the severity varies widely from person to person.

Causes and Diagnosis:

Dr Sunil Kutty, revealed, “Neurofibromatosis type 1 is a genetic disorder, which means it can be inherited from a parent who has the condition. However, it can also occur spontaneously in individuals with no family history of the disorder. Since NF1 is caused by a mutation in a single gene, genetic testing can be used to diagnose the disorder.”

He added, “The other form of neurofibromatosis is NF2. They are characterised by tumors of the vestibulocochlear or the 8th nerve and associated with hearing loss. They very often require neuro surgical intervention and regular follow up. It is important to note that the course of NF1 can be highly variable. Some children may have relatively mild symptoms and lead mostly unaffected lives, while others may face more challenges that are significant. Early diagnosis and regular medical follow-ups are essential for managing the disorder and for addressing any complications that may arise. The red flags to be aware of are any sudden growth, pain or neurological symptoms caused by the lesions. In such cases, they might require intervention mostly in the form of surgery.”

Bringing his expertise to the same, Dr Anand Mohan Thakur, Principal Consultant in Dept of Neurosurgery at Max Hospital in Dehradun, said, “The cause is genetic mutation in oncogenes. This can be familiar or sporadic. The diagnosis of NF is done by signs and symptoms and by investigations. Genetic testing, MRI, CT scan and biopsy can confirm the investigations.” He highlighted that the clinical criteria for NF1 are as follows -

1. Six or more light brown dermatological spots

2. Two neuro tumors

3. Growth on eyes iris

4. Abnormal growth of bone

Treatment and Outcomes:

Dr Anand Mohan Thakur concluded, “The treatment includes surgery, radiotherapy, chemotherapy and close follow up. The symptoms are usually mild and tumors are usually non-cancerous, so with proper management, recovery is excellent for patients and overall patient survival is not affected.”