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.

Larger than average head size – Children with Neurofibromatosis type 1 are larger than the average head size due to increased brain volume.

short stature – Children who have Neurofibromatosis type 1 often have lower-than-average height.

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.