Gen Mutation Influences Children's Nervous System Including Type 1 Neurofibro Risk

Subspecial practitioners of neurological neurological specialists at the Faculty of Medicine, University of Indonesia, Cipto Mangunkusumo Hospital, dr. Amanda Soebadi Sp.A(K) in the discussion "Recognition of Type 1 Neurofibro Thugs" in Jakarta, Wednesday (21/5/2025). (ANTARA)

JAKARTA - Changes or mutations in certain genes can have a significant impact on the nervous system, ranging from brain function to body growth.

One of the conditions closely related to genetic mutations is type 1 neurofibroxis (NF1), genetic disorders that can cause various neurological and physical complications in children.

Child neurology specialist from the Faculty of Medicine, University of Indonesia, RSUPN Dr. Cipto Mangunkusumo, dr. Amanda Soebadi, Sp.A(K), explained that NF1 is a genetic disorder due to gene changes that regulate growth and cell division.

When this gene does not function properly, there can be uncontrolled tumor growth, both in the internal organs and on the skin's surface.

"Neurofibro type 1 can attack various parts of the body, ranging from the eyes, sight, causing seizures, to trigger the growth of tumors in the brain," said dr. Amanda in an educational discussion about NF1 in Jakarta as quoted by ANTARA.

Not only that, NF1 also has the potential to disrupt intelligence, increase blood pressure, and cause abnormalities in the bone structure. Amanda added that about 50 percent of NF1 cases were genetically passed down from parents, while the rest appeared as new mutations that were not inherited.

One form of tumor that appears in NF1 sufferers is neurofibroma, which can interfere with aesthetics and is also dangerous if they grow aggressively or appear in vital organs such as the eyes and bones.

Although there are types of tame tumors such as neurofibroma plexiforms, their locations are in the body and close to the spinal cord can cause severe pain, movement disorders, and even paralysis.

"Plexiforms are tame, but if you press the spinal cord, patients can experience tremendous pain, lose their ability to walk, and even become paralyzed," he explained.

Tumor jenis ini juga bisa menyebabkan deformitas seperti koliosis (kult belakung) dan kerapuhan tulang (osteoporosis).

In addition, the initial sign of NF1 that often appears in the form of young brown patches resembling the color of milk coffee on the child's skin. If these patches are accompanied by lumps or swelling, further monitoring is needed.

Currently, there is no treatment that fully cures NF1 or prevents the appearance of tumors. tumor removal operations are usually carried out when the growth of tumor mass has interfered with the function of the body's organs or changed body shape significantly.

However, the location of the tumor that is difficult to reach and the tendency for tumors to grow again makes medical action more complex.