Uploaded on May 13, 2021
Dr Shailesh Jain – Neurofibromatosis type 1 is characterized by changes in skin color and also the development of tumors along the veins within the skin, brain, and other parts of the body. The signs and symptoms of this condition are widely different among affected people.
Best Neurologist in Pitampura - What is Neurofibromatosis Type 1
Best Neurologist in Pitampura - What is
Neurofibromatosis Type 1
Dr Shailesh Jain - Neurofibromatosis type 1 is
characterized by changes in skin color and also the
development of tumors along the veins within the skin,
brain, and other parts of the body. The signs and
symptoms of this condition are widely different among
affected people.
Neurofibromatosis type 1 also called as Recklinghausen
disease or von Recklinghausen disease or von
Recklinghausen’s phakomatosis or von Recklinghausen’s
neurofibromatosis or neurofibroma (multiple) or
peripheral neurofibromatosis.
At birth or early childhood, affected individuals may have
relatively large, benign tumors that consist of bundles of
nerves and other tissue (plexiform neurofibromas).
Individuals with Neurofibromatosis type 1 may also develop
benign nodules on the colored regions of the eyes (Lisch
nodules), or tumors in the nerves of the visual pathway
(optic pathway gliomas) by Best doctor for brain stroke in
Shalimar Bagh.
According to Dr Shailesh Jain, Neurofibromatosis type 1
could also be characterized by unusually large head size
(macrocephaly) and comparatively small height. Additional
abnormalities may be present, like episodes of uncontrolled
electrical activity within the brain (seizures), Learning
disabilities, and lack of attention; Speech difficulties;
Abnormally increased activity (hyperactivity), And skeletal
malfunctions, including progressive curvature of the spine
(scoliosis), bending of the lower legs (pseudoarthrosis) and
improper development of some bones.
Symptoms of Neurofibromatosis type 1
Flat, brown spots (cafe au lait) on the skin -These harmless spots
are common in many folks. Having more than six cafe au lait
spots suggests Neurofibromatosis type 1. they're usually present
at birth or appear during the primary years of life. After
childhood, new spots stop appearing.
Freckling in the armpits or groin area - Freckling usually
appears by ages 3 to 5 Freckles are smaller than cafe-au-lait
spots and tend to occur in clusters in skin folds.
Tiny bumps on the eye's iris (lynch nodules) - These
harmless nodules aren’t easily seen and don't affect vision.
Bone deformity - Abnormal bone development and
reduction in bone mineral density can lead to bone
deformities such as curved spine (scoliosis) or tilted lower
leg.
Tumor on the optic nerve (optic glioma) - These tumors
usually appear at the age of 3, rarely in childhood and
adolescence, and almost never in adults.
Causes of Neurofibromatosis type 1
The Neurofibromatosis type 1(NF1) gene on chromosome 17
produces a protein called neurofibromin that regulates the
growth of your cells. Mutation of this gene causes neurofibromin
loss and uncontrolled cell growth.
NF1 complications
Neurological problems - Thinking and learning difficulties
are the most common neurological problems associated with
NF1. Unusual complications include epilepsy and the creation
of excess fluid in the brain.
Vision problems - Sometimes a tumor develops on the
optic nerve, which can affect vision.
Heart problems - People who have NF1 have an increased
risk of hypertension and blood vessel abnormalities may
develop.
Trouble breathing - Rarely, plexiform neurofibromas can
exert pressure on the airway.
About Dr. Shailesh Jain, Neurosurgeon,
Neurologist
Dr. Shailesh Jain is the Best neurologist in pitampura and
Shalimarbagh has been performing with excellent results
for the last 16 years. He has vast experience in this field.
Dr. Shailesh Jain runs his Arihant Neurospin Clinic in
Pitampura and Max Superspeciality Hospital, Shalimar
Bagh. Dr Shailesh Jain is Principal Consultant
Neurosurgery and Neurointervention at Max Hospital
Shalimar Bagh and runs his own Arihant Neurospine clinic
in Pitampura and Shalimar Bagh.
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