Neurofibromatosis, type 4, of Riccardi: A rare genetic disorder characterized by areas of increased and decreased skin pigmentation and the development of many non-cancerous nerve and skin tumors some of which may eventually become malignant.
Neurofibromatosis-Noonan syndrome: A rare disorder where the patients has symptoms of neurofibromatosis (nerve tumors) and Noonan syndrome (short stature, bleeding problems, heart defect, unusual facial features, skeletal anomalies, webbed neck).
Neurofibrosarcoma, is a form of cancer of the connective tissue surrounding nerves. Given its origin and behavior it is classified as a sarcoma. About half the cases are diagnosed in people with neurofibromatosis; the lifetime risk for an MPNST in patients with neurofibromatosis type 1 is 8-13%. MPNST with rhabdomyoblastomatous component are called malignant triton tumors.
Neurogenic hypertension is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Neurogenic hypertension, or a subtype of Neurogenic hypertension, affects less than 200,000 people in the US population. Source - National Institutes of Health (NIH)
Neuroleptic malignant syndrome (NMS) is a life-threatening neurological disorder most often caused by an adverse reaction to neuroleptic or antipsychotic drugs. It generally presents with muscle rigidity, fever, autonomic instability and cognitive changes such as delirium, and is proven on a raised creatine phosphokinase (CPK). Treatment is generally supportive.
Neuroma biliary tract: A benign nerve tumor that occurs in the biliary tract. Often occurs after certain surgeries such as gall bladder removal.
Neuromyelitis optica (NMO, also known as Devic's disease or Devic's syndrome), is a heterogeneous condition consisting of the simultaneous inflammation and demyelination of the optic nerve (optic neuritis) and the spinal cord (myelitis). It can be monophasic or recurrent.
Currently at least two different causes are proposed based on the presence of autoantibodies against AQP4. AQP4+ NMO is currently considered an autoimmune disease (autoimmune astrocytopathy, or autoimmune astrocytic channelopathy) in which a person's own immune system attacks the astrocytes of the optic nerves and spinal cord. The cause of the AQP4- variants is unknown.
Although inflammation may also affect the brain, the lesions are different from those observed in the related condition, multiple sclerosis. Spinal cord lesions lead to varying degrees of weakness or paralysis in the legs or arms, loss of sensation (including blindness), and/or bladder and bowel dysfunction.
Devic's disease is now studied along a collection of similar diseases called "Neuromyelitis optica spectrum diseases". Some cases of this spectrum resemble multiple sclerosis (MS) in several ways, but require a different course of treatment for optimal results.
In 2004, NMO-IgG (currently known as Anti-AQP IgG) was first described leading to the distinction between positive and negative cases.
In Anti-AQP positive variants, CNS astrocytes, which are the basis for the glymphatic system are the target of the autoimmune attack. NMO-IgG-negative cases are less understood. It seems currently that astrocytes are spared in these IgG negative cases.
Intestinal pseudoobstruction is the decreased ability of the intestines to push food through, and often causes dilation of various parts of the bowel. It can be a primary condition (idiopathic or inherited from a parent) or caused by another disease (secondary). The clinical and radiological findings are often similar to true intestinal obstruction.
Neuronal intranuclear hyaline inclusion disease: A very rare syndrome characterized mainly by muscle problems and seizures . The disorder results from the presence of hyaline compounds inside nerve cells.
Neuronal intranuclear inclusion disease: A very rare syndrome characterized mainly by muscle and nerve degeneration.
Neuropathy ataxia and retinis pigmentosa: A rare inherited disorder where defects in the energy producing part of cells affects the nervous system and causes symptoms such as muscle and vision problems. Severity and rang of symptoms are variable.
Type 1 is the most common of the hereditary sensory and autonomic neuropathies (HSAN). Current names are: hereditary sensory neuropathy type I (HSN I), hereditary sensory and autonomic neuropathy type I (HSAN I).[3] Historical names include: Hereditary sensory radicular neuropathy, ulcero-mutilating neuropathy, thevenard syndrome, familial trophoneurosis, mal perforant du pied, and familial syringomyelia.[3] Sub-type 1C is also currently known as Charcot-Marie-Tooth type 2B syndrome (HMSN 2B).[3] Type 1 is transmitted as autosomal dominant trait and is characterized by a sensory deficit in the distal portion of the lower extremities, chronic perforating ulcerations of the feet and progressive destruction of underlying bones. Symptoms appear in late childhood on early adolescence with trophic ulcers as pain sensation is affected more. Many patients have accompanying nerve deafness and atrophy of the peroneal muscles. Histopathologic examination reveals a marked reduction in the number of unmyelinated fibers. Motor nerve conduction velocities are normal, but the sensory nerve action potentials are absent.
Neuropathy motor sensory type 2 deafness mental retardation: An inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Deafness and mental retardation are also involved
A very rare syndrome characterized mainly by sensory nerve degeneration and spastic paraplegia. The extremities of the hands and feet have reduced pain sensation and disfiguring ulcers tend to develop.
Neuropathy, distal hereditary motor, Jerash type: An inherited neuromuscular disease that causes progressive muscle wasting and weakness in the limbs without any sensory impairment.
Neuropathy, hereditary motor and sensory, LOM type: A severe form of Charcot-Marie-Tooth disease which involves the loss of the protective covering around nerves resulting in various nerve problems. Muscle weakness and wasting and sensory loss is more severe in the ends of the arms and legs.
Neuropathy, hereditary motor and sensory, Okinawa type: A dominantly inherited, slow-progressing motor and sensory nerve disease which primarily involves the proximal muscles (i.e. the muscles closest to the trunk of the body).
CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4G has an autosomal recessive form of inheritance and is a severe form of the disease. It involves a defect on Chromosome 10.
Sarcoidosis is a multisystem disease process whose pathogenesis involves formation of an inflammatory lesion known as a granuloma. Most patients with sarcoidosis do not have any symptoms; the disease often is detected on routine chest radiograph. Symptoms, if present, include cough, shortness of breath, and arthritis. The lungs are affected most frequently, but the eyes, nervous system, heart, kidneys, bones, and joints also may be affected. Sarcoidosis is a disease of unknown etiology. Involvement of the central nervous system is referred to as neurosarcoidosis. Neurosarcoidosis is an uncommon but severe, sometimes life-threatening, manifestation of sarcoidosis. It generally occurs only if the disease has had substantial systemic involvement, and signs of neurologic involvement usually are seen in patients known to have active disease. Strictly neurologic forms are seen in fewer than 10% of patients.
Syphilis bacteria frequently invade the nervous system during the early stages of infection, and approximately 3 to 7 percent of persons with untreated syphilis develop neurosyphilis. Some persons with neurosyphilis never develop any symptoms. Others may have headache, stiff neck, and fever that result from an inflammation of the lining of the brain. Some patients develop seizures. Patients whose blood vessels are affected may develop symptoms of stroke with resulting numbness, weakness, or visual complaints. In some instances, the time from infection to developing neurosyphilis may be up to 20 years. Neurosyphilis may be more difficult to treat and its course may be different in people with HIV infection
Neurotoxicity syndromes: Altered nervous system functioning caused by exposure to certain chemicals (manmade or natural) that affect the nervous system - essentially it is the poisoning of the nervous system. Examples of toxic compounds that may cause neurotoxicity include lead, certain solvents and pesticides. Symptoms may occur immediately or gradually over a period of time. Neurotoxicity syndromes is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Neurotoxicity syndromes, or a subtype of Neurotoxicity syndromes, affects less than 200,000 people in the US population.
Neurotrophic keratopathy is a degenerative disease of the corneal epithelium resulting from impaired corneal innervation. A reduction in corneal sensitivity or complete corneal anesthesia is the hallmark of this disease and is responsible for producing epithelial keratopathy, ulceration and perforation. Although numerous ocular and systemic diseases may result in neurotrophic keratopathy, there is one common insult: a lesion of the trigeminal nerve (cranial nerve V) or its branches.
Patients with neurotrophic keratopathy should undergo a complete medical and surgical history, a review of medications and an ocular examination. Although the clinical diagnosis may be made without difficulty, the management of neurotrophic keratopathy can be quite challenging.
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A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities.
A blood disorder where the level of neutrophils in the blood fluctuates with periods of low neutrophil levels. Neutrophils are the body's first line of defense against infection and destroy bacteria in the blood. Low levels of neutrophils increases the risk of infection.
Neutropenia - monocytopenia - deafness: A very rare syndrome characterized mainly by deafness and a blood disorder
A rare blood disorder where there are abnormally low levels of neutrophils (type of white blood cell) in the body which impairs the body's ability to fight bacterial infections. There are four main types of the disorder: idiopathic, congenital, autoimmune and cyclical
Acute febrile neutrophilic dermatosis, also termed Sweet syndrome, is a reactive process characterized by the abrupt onset of tender, red-to-purple papules, and nodules that coalesce to form plaques. The plaques usually occur on the upper extremities, face, or neck and are typically accompanied by fever and peripheral neutrophilia. Initially described in 1964 by Robert Sweet, the entity currently recognized as Sweet syndrome ranges from classic Sweet disease, which occurs in young women after a mild respiratory illness, to a more aggressive neutrophilic process, which may be associated with other inflammatory diseases or malignancy. In fact, the lesions may be the first evidence of an underlying disorder and should prompt further investigation. A drug-induced variant due to the administration of various medications has been recognized, and a pregnancy-associated form has also been reported. In general, Sweet syndrome responds dramatically to oral corticosteroids and may improve or resolve with treatment of the underlying condition. Without treatment, the syndrome may persist for weeks or months and then improves without leaving scars. Recurrences are common. In rare cases, crops of lesions reappear and the condition persists indefinitely. Cases associated with malignancy can be bullous or ulcerative and resemble atypical pyoderma gangrenosum. These lesions are often recalcitrant to treatment. The diagnosis of Sweet syndrome is based on both clinical and histopathologic findings. Characteristics that distinguish the lesions of Sweet syndrome from other neutrophilic dermatosis are healing of the lesions without scarring and an absence of vasculitis.
A rare inherited condition involving the presence of dark red, flat patches of skin. The patches can occur anywhere on the body, they vary in size and there is more than one.