A nephrologist is a physician who has been educated and trained in kidney diseases, kidney transplantation, and dialysis therapy. Children may see a pediatric nephrologist.
A neurodevelopmental evaluation involves a battery of tests used to assess cognitive and behavioral functions, and identify areas of cognitive impairment.
Neurofibromatosis is a genetic disorder caused by a mutation to the NF1 or NF2 gene. Neurofibromatosis 1 (NF1) is characterized by multiple benign tumors and patches of skin pigmentation called café au lait spots. Neurofibromatosis 2 (NF2) is characterized by tumors of the hearing and balance nerve.
A neurologist is a physician who specializes in disorders of the nervous system. A neurologist who treats people with TSC is trained to recognize the neurological symptoms and brain abnormalities characteristic of the disorder.
A neuron is a specialized cell that transmits electrical and chemical signals in the body's nervous system. Also known as a nerve cell.
A neuropsychologist is a psychologist with specialized training in brain-behavior relationships and the evaluation of cognitive functions. Neuropsychologists use a battery of standardized tests to assess specific cognitive and behavioral functions and identify areas of cognitive impairment as they relate to brain functioning. A neuropsychologist who treats people with TSC is knowledgeable about the specific cognitive and behavioral issues that are common to the disorder and knows what treatment options are most effective for these issues.
A neurosurgeon is a physician who specializes in performing surgery on the central nervous system, including the brain. A neurosurgeon who treats people with TSC is trained in the identification and removal of SEGAs. A neurosurgeon who specializes in epilepsy surgery is trained in the removal of specific regions of the cerebral cortex identified as the primary location of seizure activity. A neurosurgeon may also be trained to implant a vagus nerve stimulator (VNS) to help control seizures.
Nucleotides are the chemical bases that make up DNA. The four chemical bases are adenine, thymine, cytosine, and guanine (usually referred to by the first letter of their chemical name: A, T, C, and G). These bases pair up with each other to form the rungs of the twisted-ladder-shaped DNA molecule.
A nutritionist is a medical professional who specializes in diet and metabolism. A nutritionist who is knowledgeable about TSC-related seizures and has had specialized training in administering the ketogenic diet can provide background and instructions on how to implement this alternative therapy.
An ophthalmologist is a physician who specializes in the medical and surgical care of the eyes and visual system and in the prevention of eye disease and injury. An ophthalmologist is trained to recognize the various eye manifestations of TSC and to ascertain the significance of these abnormalities in terms of eye function.
Ophthalmoscopy is an examination of the eye using an ophthalmoscope, a lighted instrument used to view the inner eye including the retina and optic nerve. Also called funduscopy.
Partial seizures originate from a localized, or specific, part of the brain. There are two types of partial seizures: simple partial seizures, which do not alter an individual's consciousness, and complex partial seizures, which may cause a sensation of dreaminess, dramatic mood change, or complete unresponsiveness. All seizures in TSC are thought to be partial in onset.
A pedigree is a genealogical diagram that shows all family members as well as how a particular trait or disease has been inherited.
A periungual fibroma is a flesh-colored or reddish lesion that grows around fingernails and toenails. Periungual fibromas vary in size from a few millimeters to about 1 cm in diameter.
Photocoagulation is a laser treatment used to treat conditions of the eye. Photocoagulation can be used to remove or reduce the size of a retinal hamartoma by eliminating the network of blood vessels that feeds the tumor.
See Polycystic Kidney Disease.
Pneumothorax occurs when a cyst in the lung ruptures, creating a small hole in the lining of the lung that allows air to escape into the surrounding chest cavity, causing the lung to collapse. This condition requires immediate medical attention.
Polycystic Kidney Disease (PKD)
Polycystic kidney disease is a rare inherited genetic disorder causing multiple cysts in the kidneys. This disease is closely related to TSC.
A psychiatrist is a medical doctor who specializes in the diagnosis and treatment of mental disorders. A psychiatrist who treats people with TSC is familiar with the cognitive and behavioral issues that are common to the disorder and knows what treatment options are most effective for these issues.
A psychologist is a professional who has earned a doctoral degree in psychology and has undergone clinical training. He or she is a specialist in the diagnosis and treatment of mental and emotional problems. His or her role involves evaluation, testing, counseling, and/or psychotherapy, without the use of medications.
Pulmonary Computed Tomography (CT)
See Computed Tomorgraphy.
A pulmonologist is a physician with specialized training in the anatomy, physiology, and pathology of the lungs and pulmonary system.