spinal neurofibromatosis

Spinal neurofibromatosis (SNF) is a rare form of Neurofibromatosis type 1 (NF1), characterized by the presence of neurofibromas bilaterally throughout all spinal roots [7][8]. This condition can lead to various symptoms and complications, including:

• Back pain: Progressive worsening back pain is a common symptom of SNF [9].
• Neurological deficits: Decreased sensation, progressive weakness, or paralysis in areas innervated by the affected spinal nerves can occur [1][2].
• Spinal deformity: Spinal deformity is the most common orthopaedic manifestation in NF1 and can be categorized into dystrophic and non-dystrophic types [6].

In some cases, neurofibromas in the roots of the spinal nerves can damage the vertebral bodies, causing neurological symptoms [1]. It's essential to note that SNF is a rare condition, and its diagnosis requires a thorough medical evaluation.

References:

[1] Context result 1: Jul 10, 2017 [2] Context result 1: Jul 10, 2017 [6] Context result 6: by AI Tsirikos · 2005 · Cited by 187 [7] Context result 7: by A Baradaran Bagheri · 2022 · Cited by 2 [8] Context result 8: by Z Ning · 2020 · Cited by 11 [9] Context result 9: Neurofibromatosis symptoms

Spinal neurofibromatosis, also known as neurofibromatosis type 1 (NF1), can cause a variety of symptoms that affect the spine and nervous system.

Common symptoms:

• Pain that travels along the path of an affected nerve [4]
• Attention-deficit/hyperactivity disorder (ADHD)
• Delayed speech or language development
• Learning difficulties

These symptoms can vary in severity and may not be present in all individuals with spinal neurofibromatosis.

Other possible symptoms:

• Balance problems
• Walking problems
• Dizziness
• Headache
• Hearing loss
• Facial weakness
• Numbness or pain
• Ringing in ears (tinnitus)

It's worth noting that not everyone with spinal neurofibromatosis will experience all of these symptoms, and the severity of the condition can vary from person to person.

Diagnosis:

To diagnose a spinal neurofibroma, your doctor may order a CT, MRI or X-ray scan to examine your brain and spinal cord. If a tumor is found, they will evaluate its size, location, and potential impact on surrounding tissues [3].

References:

[1] Trouble with learning and thinking are the most common neurological symptoms associated with NF1. [2] Six or more flat, light brown spots on the skin (“café au lait” spots), which are the most common feature of NF1. [3] To diagnose a spinal neurofibroma, your doctor may order a CT, MRI or X-ray scan to examine your brain and spinal cord. If a tumor is found, they will evaluate ... [4] Pain that travels along the path of an affected nerve · Attention-deficit/hyperactivity disorder (ADHD) · Delayed speech or language development · Learning ...

Spinal neurofibromatosis, also known as neurofibromatosis type 1 (NF1), can be diagnosed through various diagnostic tests.

• Imaging tests: X-rays, CT scans, and MRIs are commonly used to identify bone changes, tumors in the brain or spinal cord, and very small tumors. An MRI might be used to diagnose optic gliomas [1].
• Genetic testing: Genetic testing for NF1 can help support the diagnosis. This test can also be done in pregnancy before a baby is born [1].
• Detailed imaging of the brain and spinal cord: MRI is necessary to identify schwannomas on peripheral nerves, which are characteristic of NF1 [2].

In some cases, additional imaging tests may be required based on symptoms, such as:

• CT scan (computed tomography scans): This test can help detect tumors in the spine or other parts of the body [5].
• Electromyogram (EMG): An EMG measures the electrical activity of muscles and can help diagnose nerve damage caused by NF1 [5].

It's worth noting that a diagnosis of spinal neurofibromatosis is often confirmed through a combination of clinical evaluation, imaging tests, and genetic testing.

References:

[1] Context result 1 [2] Context result 2 [5] Context result 5

Treatment Options for Spinal Neurofibromatosis

Spinal neurofibromatosis, a type of neurofibromatosis (NF), can be challenging to treat due to its complex nature. However, various drug treatments have shown promise in managing the condition.

• Selumetinib: This is the most promising emerging drug for NF1, including spinal neurofibromatosis [1]. In a clinical trial on 24 patients with PNF, selumetinib showed significant efficacy in reducing tumor size and improving symptoms [1].
• MEK1 and mTOR inhibitors: These drugs have been tested in clinical trials and may be useful for treating neurofibroma, including spinal neurofibromatosis [2]. However, more research is needed to confirm their effectiveness.
• Multikinase inhibitors: Selumetinib belongs to this class of drugs, which target multiple kinases involved in tumor growth and progression [3].
• First-generation antihistamines: While not specifically approved for spinal neurofibromatosis, first-generation antihistamines like diphenhydramine have been used off-label to manage symptoms such as itching and hives [5].

Approved Medical Therapy

The only approved medical therapy for NF1-PN (plexiform neurofibroma), which includes spinal neurofibromatosis, is selumetinib. It has been indicated for the treatment of pediatric patients aged ≥ 2 years with NF1-PN [6]. Additionally, selumetinib has been approved to treat a plexiform neurofibroma in children with neurofibromatosis type 1 [7].

Ongoing Research

A study is currently exploring the use of two medications, cabozantinib and selumetinib, for the treatment of plexiform neurofibromas in adults and children [8]. This research aims to expand our understanding of effective treatments for spinal neurofibromatosis.

References:

[1] T Foiadelli · 2020 · Cited by 20 — Among emerging drugs for NF1, so far Selumetinib seems the most promising for the treatment of PNF. In a recent clinical trial on 24 patients with PNF (107), 71 ...

[2] by O Rabab’h · 2021 · Cited by 12 — Many drugs that were tested in clinical trials, such as MEK1 and mTOR inhibitors, may be useful for the treatment of neurofibroma because they ...

[3] Drugs used to treat Neurofibromatosis ; Generic name: selumetinib systemic; Brand name: Koselugo; Drug class: multikinase inhibitors ...

[4] by S Jackson · 2020 · Cited by 37 — Based on these results, in April 2020, selumetinib became the first medical therapy approved by the US Food and Drug Administration for the treatment of ...

[5] Apr 12, 2022 — Diphenhydramine (Aler-Dryl, Benadryl, Diphen, Altaryl) ... First-generation antihistamine with anticholinergic effects that binds to H1 receptors ...

[6] by AE Armstrong · 2023 · Cited by 22 — Currently, the only approved medical therapy for NF1-PN is selumetinib, which is indicated for the treatment of pediatric patients (aged ≥ 2 ...

[7] Oct 5, 2024 — Selumetinib (Koselugo) has been approved to treat a plexiform neurofibroma in children with neurofibromatosis type 1. A plexiform neurofibroma ...

[8] Overview: This study will explore the use of two medications, cabozantinib and selumetinib, for the treatment of plexiform neurofibromas in adults and ...

Spinal neurofibromatosis, also known as spinal neurofibroma, is a type of tumor that affects the spine and is associated with neurofibromatosis type 1 (NF1). When it comes to differential diagnosis, there are several conditions that need to be ruled out.

Main Differential Diagnoses:

• Spinal schwannoma: This is another type of tumor that affects the nerve sheaths in the spine. It can cause similar symptoms to spinal neurofibromatosis, such as pain and neurological deficits.
• Spinal meningioma: This is a type of tumor that arises from the meninges, the protective membranes surrounding the brain and spinal cord. Like spinal neurofibromatosis, it can cause symptoms such as pain and neurological deficits.

Other Differential Diagnoses:

• Dermatofibrosarcoma protuberans (DFSP): This is a rare type of skin cancer that can mimic the appearance of a neurofibroma.
• Ganglioneuroma: This is a rare tumor that arises from the nerve cells in the spine and can cause similar symptoms to spinal neurofibromatosis.
• Dermal neurotized melanocytic nevi: These are benign growths on the skin that can be mistaken for neurofibromas.

Key Features to Consider:

• Location: Spinal schwannomas and meningiomas tend to occur in specific locations along the spine, whereas spinal neurofibromatosis can occur anywhere along the spine.
• Size: Spinal schwannomas and meningiomas are often larger than spinal neurofibromas.
• Symptoms: The symptoms of spinal neurofibromatosis, such as pain and neurological deficits, can be similar to those of spinal schwannoma and meningioma.

References:

• [2] Mar 9, 2020 — Spinal neurofibroma must be differentiated from schwannoma, dermatofibrosarcoma protuberans (DFSP), ganglioneuroma, dermal neurotized melanocytic nevi.
• [6] Nov 1, 2019 — Neurofibroma must be differentiated from schwannoma, dermatofibrosarcoma protuberans (DFSP), ganglioneuroma, dermal neurotized melanocytic nevi.
• [10] by AS Kivrak · 2009 · Cited by 43 — Spinal lesions pass through the corresponding neural foramen and lead to the so-called “dumbbell” lesion, are usually associated with neural foraminal widening.