Diseases

Question 1

What is Wilson disease?

Answer 1

Wilson is a hereditary syndrome in which faulty metabolism of copper allows the metal to accumulate in toxic concentrations in the liver, and eventually, in the bones, joints, brain, cornea, kidney, and skin.

INCIDENCE: The disease is rare. It is present in about 1 in 40,000 people and usually becomes clinically apparent in the first four decades of life.

CAUSES: The disease is inherited as an autosomal recessive trait.

SYMPTOMS AND SIGNS: The disease is characterized by elevated liver enzymes, hemolytic anemia, degenerative changes in the brain, cirrhosis of the liver, splenomegaly, tremor, progressive weakness, dystonia, muscular rigidity, involuntary movements, spastic contractures, and psychatric disturbances.

DIAGNOSIS: A pigmented ring seen at the outer margin of the cornea (Kayser-Fleischer rings) is pathognomonic as are “sunflower cataracts” of the eye. Both of these findings are best appreciated with a slit lamp examination of the eye. The disease should be suspected in any patient with elevated liver enzymes and intravascular hemolysis, so long as the direct-antiglobulin test (a test for autoimmune hemolytic anemia) is negative. Wilson disease is further suggested by a low alkaline phosphatase level in the presence of elevations of other liver and biliary enzymes. Screening includes testing for serum ceruloplasmin and copper levels. The disease can be definitively confirmed with a liver biopsy showing excessive deposition of copper in the liver.

TREATMENT: Copper-chelating drugs (d-penicillamine or trientene) which bind to circulating copper and allow it to be excreted in the urine, or drugs such as zinc acetate or coprexa that block the absorption of copper from the gastrointestinal tract are used to treat Wilson disease. Once the disease is established, liver dysfunction is often so severe the patient may require liver transplantation. The copper binder, D-penicillamine, may cause pyridoxine and iron deficiency.

IMPACT ON HEALTH: Undiagnosed and untreated, Wilson disease is fatal, but the disease can often be managed once it is recognized.

PATIENT CARE: Family members of patients with Wilson disease should be tested for mutations that suggest they are also affected. Asymptomatic individuals with Wilson disease should begin treatment to block intestinal absorption of the metal. Nutritional consultation can be obtained to help patients avoid consuming excessive copper in the diet. Copper-rich foods include organ meats, shellfish, nuts, dried legumes, chocolate, and whole cereals.

Question 2

What is Freidreich ataxia?

Answer 2

Freidreich ataxia is an inherited degenerative disease with sclerosis of the dorsal and lateral columns of the spinal cord. It is accompanied by muscular uncoordination, speech impairment, lateral curvature of the spinal column, with muscle paralysis, especially of the lower extremities. The onset is in childhood or early adolescence.

Question 3

What is amyloid angiopathy?

Answer 3

Amyloid angiopathy is an abnormality of the cerebral blood vessels in which amyloid is deposited in the walls of small arteries and arterioles. It may occur in those with chronic infectious and inflammatory disorders of B-Cell lymphoma and is a common contributor to intracerebral hemorrhage or Alzheimer’s disease in older adults.

Question 4

What is cavernous sinus syndrome?

Answer 4

Cavernous sinus syndrome is the clinical consequence of a blood clot or tumor in the sinus cavernosus. Symptoms include headache, unit lateral or bilateral facial pain, ocular paralysis, facial edema, and retinal edema.

Question 5

What is Vernet syndrome?

Answer 5

Vernet syndrome is paralysis of the glossopharyngeal, vagus, and spinal accessory nerves on the opposite de side of a lesion involving the jugular foramen. It may occur, e.g., after a fracture of the occipital condyle.

Question 6

What is Gerstmann Syndrome?

Answer 6

Gerstmann syndrome is a rare neurological disorder consisting of a tetras of symptoms which include impairment in performing calculations (acalculia), discriminating their own fingers (finger agnosia), writhing by hands (agraphia) and impairment of distinguishing left from right (left-right disorientation).

Question 7

What is frontotemporal dementia?

Answer 7

Frontotemporal dementia is a general term for any of four types of dementia: frontotemporal local degenerations, Pick disease, primary progressive aphasia, or semantic dementia. Symptoms include personality changes, psychiatric decompensation, apathy, compulsive or repetitive behavior, lack of social inhibition, and deteriorating in planning and language use.

Question 8

What is vascular dementia?

Answer 8

Vascular dementia is dementia resulting from multiple small strokes. After Alzheimer disease, it is the most common form of dementia in the United States. It has a distinctive natural history. Unlike Alzheimer disease, which develops insidiously, the cognitive deficits of multi-infarct dementia appear suddenly, in stepwise fashion. The disease is rare before middle age, and it most common in patients with hypertension, diabetes mellitus, or other risk factors for generalized atherosclerosis. Brain imaging in patients with his form of dementia shows multiple lacunar infarcts.

Question 9

What is normal pressure hydrocephalus?

Answer 9

Normal pressure hydrocephalus is hydrocephalus with enlarged ventricles of the brain with no increase in the spinal fluid pressure or no demonstrable block to the outflow of spinal fluid. Shunting fluids from the dilated ventricles to the peritoneal cavity may be helpful. The classic triad of symptoms includes disturbances of gait, progressive dementia, urinary incontinence.

Question 10

What is communicating hydrocephalus?

Answer 10

Communicating hydrocephalus is hydrocephalus resulting from impair reabsorption of cerebrospinal fluid. The normal communication between the fourth ventricle of the brain and subarachnoid space is maintained.

Question 11

What is hydrocephalus ex vacuo?

Answer 11

Hydrocephalus ex vacuo is enlarged lateral ventricles, caused by atrophy of the brain.

Question 12

What is noncommunicating hydrocephalus?

Answer 12

No communicating hydrocephalus is hydrocephalus in which a blockage at any location in the ventricular system prevents flow of cerebrospinal fluid to the subarachnoid space.

Question 13

What is obstructive hydrocephalus?

Answer 13

Obstructive hydrocephalus is hydrocephalus resulting from a blockage to cerebrospinal fluid flow.

Question 14

What is Wernicke encephalopathy?

Answer 14

Wernicke encephalopathy is encephalopathy that is associated with thiamine (Vitamin B1) deficiency.

Causes: The disease is usually associated with chronic alcoholism or other causes of severe malnutrition, eg carcinoid syndrome, chronic gastritis, or Crohn disease.

Symptoms & Signs: The patient may present with some or all of the following: ataxia, nystagmus, confusion, impairment of short-term memory, and opthalmoplegia (paralysis of the ocular muscles).

Diagnosis: The disease is diagnosed by its clinical signs and symptoms in a patient with alcohol use disorder.

Treatment: Thiamine is given parenterally and/or orally to all patients with a history of alcohol use disorder before the administration of glucose.

Question 15

What is Korsakoff syndrome?

Answer 15

Korsakoff syndrome is a psychosis that is characterized by inflammatory changes in the gray matter around the third ventricle, the anterior portion of the fourth ventricle, and aqueduct of Sylvia’s. It is characterized by ocular abnormalities, mental disturbances, and ataxia. The origin of the disease is thiamine (Vitamin B1) deficiency.

Question 16

What is Bell palsy?

Answer 16

Bell palsy is paralysis of the facial nerve.

Etiology: Bell palsy is usually caused by deactivation of herpes simplex virus, but other infections such as syphilis or Lyme disease are sometimes implicated.

Symptoms & Signs: Paralysis of the facial nerve typically results in an asymmetrical facial appearance. Either side of the face may be affected. The affected patient is unable to raise one side of the mouth to smile or to wrinkle or raise the eyebrow on the same side. This peripheral nerve dysfunction is distinguished from strokes that alter facial movement by the involvement of both the forehead and the mouth. Paralysis of the face caused by strokes usually only limits movement of the oral muscles.

Diagnosis: Bell palsy is diagnosed by physical examination.

Treatment: Tapering doses of prednisone without antiviral drugs provide the most effective results. In addition, the affected eye should be protected from drying with artificial tears or unmediated ointments. Some practitioners advise wearing sunglasses during the palsy of patchy the eye to protect it from foreign bodies or drying.

Question 17

What is Reye syndrome?

Answer 17

Reye syndrome is a syndrome marked by acute encephalopathy and fatty infiltration of the liver and often of the pancreas, heart, kidney, spleen, and lymph nodes. The mortality rate depends on the severity of the central nervous system involvement but may be as high as 80%.

Incidence: The syndrome is rare, seen primarily in children under age 19 after an acute viral infection such as chickenpox or influenza.

Causes: The cause of the disease is unknown, but its association with increased use of aspirin and other salicylates is evident from epidemiological studies. After public health advisories recommended avoiding aspirin use in children and adolescents, the rate of hospitalization from Reye syndrome dropped to less than 1 per million.

Symptoms: The patient experiences a viral infection with a brief recovery period, followed in about 1 to 3 days by severe nausea and vomiting, a change in mental status (disorientation, agitation, coma, seizures), and hepatomegaly without jaundice in 40% of cases. The disease should be suspected in any child with acute onset of encephalopathy, nausea and vomiting, or altered liver function, esp. after a recent illness. The severity of the syndrome depends on how badly the brain swells during the illness, reflected in increased intracranial pressure (ICP). Aspirin and other salicylates should not be used for any reason in treating children under age 18 with viral infections.

Treatment: Supportive care includes intravenous administration of fluids and electrolytes, administration of corticosteroids, and ventilatory assistance. Electrolytes, levels of serum glucose and ammonia, and neurological status should be controlled carefully.

Question 18

What is Gullain-Barre syndrome (GBS)?

Answer 18

Gullain-Barre syndrome (GBS) is a rare autoimmune illness characterized by progressive, potentially fatal ascending paralysis, with loss of motor reflexes, ataxia, and paresthesias. There are three types: acute inflammatory demyelinating polyradiculoneuropathy (90% of cases), acute motor axonal neuropathy (AMAN), or motor and sensory axonal neuropathy (AMSAN).

Incidence: GBS affects about 1 or 2 people per 100,000 population

Causes: Destruction of myelin in peripheral nerves is the proximate cause. The disease typically occurs a few weeks after an upper respiratory infection, a bout of gastroenteritis, or in some instances, a vaccine. AMAN and AMSAN are more likely to occur after gastrointestinal infection with Campylobacter jejuni and may result from antibodies against gangliosides (anti-GM 1 antibodies). Other infections that sometimes precede GBS are cytomegalovirus, Epstein-Barr virus, Zika virus, or Mycoplasma pneumoniae infection. Some cases have occurred after other traumatic events, including snake bite, cardiac surgery, or antiviral therapy for hepatitis C virus infection.

Diagnosis Any patient with a bilateral, ascending paralysis should be considered as having GBS; other illnesses (such as tick-borne paralysis) may mimic the disease.

Treatment: Plasma exchange and/or intravenous immunoglobulin infusions help manage GBS.

Question 19

What is tyrosine hydroxylase deficiency?

Answer 19

Tyrosine hydroxylase deficiency is an autosomal recessive disorder of L‐Dopa biosynthesis, the rate‐limiting step for the generation of the catecholamine neurotransmitters dopamine, norepinephrine, and epinephrine. This monoamine neurotransmitter disorder, also known as autosomal recessive Segawa syndrome, has a broad continuous spectrum, manifesting from infancy to young adulthood as abnormal movements in the form of dystonia, rest tremor and Parkinsonism.