Mirizzi's syndrome is a rare cause of acquired jaundice. It is caused by chronic cholecystitis and large gallstones resulting in stenosis of the common bile duct. Occurs in approximately 0.1% of patients with gallstone disease[1] and 0.7-1.4% of patients undergoing cholecystectomy[2] It affects males and females equally, but tends to affect older people more often. There is no evidence of race having any bearing on the epidemiology.
Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common.
Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.
There are close to 40 different types of mitochondrial diseases.
Source: umdf
Mitochondrial encephalomyopathy - aminoacidopathy: A very rare syndrome characterized mainly by muscle and brain disease and an amino acid disorder.
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). The signs and symptoms of this disorder most often appear in childhood following a period of normal development, although they can begin at any age. Early symptoms may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. These episodes often involve temporary muscle weakness on one side of the body (hemiparesis), altered consciousness, vision abnormalities, seizures, and severe headaches resembling migraines. Repeated stroke-like episodes can progressively damage the brain, leading to vision loss, problems with movement, and a loss of intellectual function (dementia).
Most people with MELAS have a buildup of lactic acid in their bodies, a condition called lactic acidosis. Increased acidity in the blood can lead to vomiting, abdominal pain, extreme tiredness (fatigue), muscle weakness, and difficulty breathing. Less commonly, people with MELAS may experience involuntary muscle spasms (myoclonus), impaired muscle coordination (ataxia), hearing loss, heart and kidney problems, diabetes, and hormonal imbalances.
Mitochondrial myopathy - lactic acidosis: A very rare syndrome characterized mainly by muscle disease and a metabolic disorder. The severity and progression of the disease is variable with some dying early in their second decade and others living longer.
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is a condition that affects several parts of the body, particularly the digestive system and nervous system. The major features of MNGIE disease can appear anytime from infancy to adulthood, but signs and symptoms most often begin by age 20. The medical problems associated with this disorder worsen over time.
Almost all people with MNGIE disease have a condition known as gastrointestinal dysmotility, in which the muscles and nerves of the digestive system do not move food through the digestive tract efficiently. The resulting digestive problems include feelings of fullness (satiety) after eating only a small amount, trouble swallowing (dysphagia), nausea and vomiting after eating, episodes of abdominal pain, diarrhea, and intestinal blockage. These gastrointestinal problems lead to extreme weight loss and reduced muscle mass (cachexia).
MNGIE disease is also characterized by abnormalities of the nervous system, although these tend to be milder than the gastrointestinal problems. Affected individuals experience tingling, numbness, and weakness in their limbs (peripheral neuropathy), particularly in the hands and feet.
Additional neurological signs and symptoms can include droopy eyelids weakness of the muscles that control eye movement (ophthalmoplegia), and hearing loss. Leukoencephalopathy, which is the deterioration of a type of brain tissue known as white matter, is a hallmark of MNGIE disease. These changes in the brain can be seen with magnetic resonance imaging (MRI), though they usually do not cause symptoms in people with this disorder.
A rare genetic condition characterized by slow-progressing muscle weakness and atrophy that starts in the calves and progresses to the rest of the legs and arms. Occasionally the hips and shoulders may be affected but the heart and facial muscles are spared.
A type of x-linked mental retardation discovered by Hamel.
A rare genetic defect that can cause meningiomas to develop. A meningioma is a tumor of the meninges which is a membrane that encloses the brain and spinal cord The genetic defect occurs on chromosome 22. The tumor is usually slow-growing and benign.
A rare genetic condition characterized by defective cranial nerves (6th and 7th), deafness, facial nerve paralysis and other abnormalities.
Traumatic brain injury (TBI), a form of acquired brain injury, occurs when a sudden trauma causes damage to the brain. The damage can be focal - confined to one area of the brain - or diffuse - involving more than one area of the brain. TBI can result from a closed head injury* or a penetratinghead injury. A closed injury occurs when the head suddenly and violently hits an object but the object does not break through the skull. A penetrating injury occurs when an object pierces the skull and enters brain tissue.
TBI is a major public health problem, especially among male adolescents and young adults ages 15 to 24, and among elderly people of both sexes 75 years and older. Children aged 5 and younger are also at high risk for TBI.
TBI costs the country (USA) more than $56 billion a year, and more than 5 million Americans alive today have had a TBI resulting in a permanent need for help in performing daily activities. Survivors of TBI are often left with significant cognitive, behavioral, and communicative disabilities, and some patients develop long-term medical complications, such as epilepsy.
Other statistics dramatically tell the story of head injury in the United States. Each year:
• approximately 1.4 million people experience a TBI,
• approximately 50,000 people die from head injury,
• approximately 1 million head-injured people are treated in hospital emergency rooms, and
• approximately 230,000 people are hospitalized for TBI and survive.
What Are the Different Types of TBI?
Concussion is the most minor and the most common type of TBI. Technically, a concussion is a short loss of consciousness in response to a head injury, but in common language the term has come to mean any minor injury to the head or brain.
Other injuries are more severe. As the first line of defense, the skull is particularly vulnerable to injury. Skull fractures occur when the bone of the skull cracks or breaks. A depressed skull fracture occurs when pieces of the broken skull press into the tissue of the brain. A penetrating skull fracture occurs when something pierces the skull, such as a bullet, leaving a distinct and localized injury to brain tissue.
Skull fractures can cause bruising of brain tissue called a contusion. A contusion is a distinct area of swollen brain tissue mixed with blood released from broken blood vessels. A contusion can also occur in response to shaking of the brain back and forth within the confines of the skull, an injury called “contrecoup”. This injury often occurs in car accidents after high-speed stops and in shaken baby syndrome, a severe form of head injury that occurs when a baby is shaken forcibly enough to cause the brain to bounce against the skull. In addition, contrecoup can cause diffuse axonal injury , also called shearing , which involves damage to individual nerve cells ( neurons ) and loss of connections among neurons. This can lead to a breakdown of overall communication among neurons in the brain.
Damage to a major blood vessel in the head can cause a hematoma, or heavy bleeding into or around the brain. Three types of hematomas can cause brain damage. An epidural hematoma involves bleeding into the area between the skull and the dura. With a subdural hematoma , bleeding is confined to the area between the dura and the arachnoid membrane . Bleeding within the brain itself is called intracerebral hematoma.
Another insult to the brain that can cause injury is anoxia. Anoxia is a condition in which there is an absence of oxygen supply to an organ's tissues, even if there is adequate blood flow to the tissue. Hypoxia refers to a decrease in oxygen supply rather than a complete absence of oxygen. Without oxygen, the cells of the brain die within several minutes. This type of injury is often seen in neardrowning victims, in heart attack patients, or in people who suffer significant blood loss from other injuries that decrease blood flow to the brain.
Source: National Institute of Neurological Disorders and Stroke
Referring to any several rare hereditary forms of diabetes mellitus due to dominantly inherited defects of insulin secretion, maturity onset diabetes of the young or MODY acts like a mild version of type 1 diabetes. the continued partial insulin production and normal insulin sensitivity however mean it is not type 2 diabetes in a young person. The most common forms of the disease are MODY 2 and MODY 3 but as of 2004, six more types have been named and more are likely to be added.
A very rare syndrome characterized mainly by facial paralysis due to problems with 6th and 7th nerve development (Moebius sequence) and hypogonadism.
A very rare syndrome characterized mainly by facial paralysis due to problems with 6th and 7th nerve development (Moebius sequence) and ophthalmoplegia.
Moersch-Woltman Condition/Syndrome has also been refered to as: Stiff-Person-Syndrome or Stiff-Man Syndrome (SMS). Stiff-man Syndrome is a rare disease of severe progressive muscle stiffness of the spine and lower extremities with superimposed muscle spasms triggered by external stimuli or emotional stress. Typically symptoms begin between the age of 30 and 50 and respond to benzodiazepines. EMG shows a characteristic abnormality and anti-GAD (glutamic acid decarboxylase) antibodies, which are very specific, are present in 60% of people with the disease.
SMS is very rare. The prevalence has not been reported however it may be as rare as 1 per 1,000,000 persons. There is no clear racial or ethnic predisposition although the disease may be more common in women than in men. Patients with SMS often have other autoimmune disease. A related disorder has been found in association with lung or breast cancer and is distinguished by the production of anti-amphiphysin antibodies.
http://medicine.yale.edu/neurology
A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flapss and finger abnormalities.
A very rare syndrome characterized mainly by nerve degeneration. Deafness usually occurs early in life.
A very rare syndrome characterized mainly by short stature, mental retardation and eye defects.
Molybdenum cofactor deficiency is a rare condition characterized by brain dysfunction (encephalopathy) that worsens over time. Babies with this condition appear normal at birth, but within a week they have difficulty feeding and develop seizures that do not improve with treatment (intractable seizures). Brain abnormalities, including deterioration (atrophy) of brain tissue, lead to severe developmental delay; affected individuals usually do not learn to sit unassisted or to speak. A small percentage of affected individuals have an exaggerated startle reaction (hyperekplexia) to unexpected stimuli such as loud noises.
Other features of molybdenum cofactor deficiency can include a small head size microcephaly and facial features that are described as “coarse.”
Tests reveal that affected individuals have high levels of chemicals called sulfite, S-sulfocysteine, xanthine, and hypoxanthine in the urine and low levels of a chemical called uric acid in the blood.
Because of the serious health problems caused by molybdenum cofactor deficiency, affected individuals usually do not survive past early childhood.
Mononeuritis multiplex is a neurological disorder that involves damage to at least two separate nerve areas.
A very rare chromosomal disorder where a portion of chromosome 8q is missing. The main symptoms include eye, ear and kidney abnormalities as well as mental retardation.
A very rare chromosomal disorder where a portion of chromosome 8q is missing resulting in various abnormalities.
Turner syndrome is a genetic disorder seen in girls that causes them to be shorter than others and to not mature sexually as they grow into adulthood. The severity of these problems varies among affected individuals. Other health problems may also be present involving the heart or renal system (i.e., kidneys). Many problems affecting girls with Turner syndrome can be managed or corrected with appropriate medical treatment. Turner syndrome occurs in one in 2,500 females born.
Premature closure of sutures of the skull associated with marfanoid habitus (tall stature with long and slim limbs, little subcutaneous fat, arachnodactyly, joint hyperextensibility, narrow face, small chin, large testes, and hypotonia), hypotonia, abdominal hernia, developmental delay, and other anomalies. The syndrome was first observed by Shprintzen and Goldberg in the Montefiore Hospital in New York, hence the name Montefiore syndrome.
An ear deformity where the ear has no folds, is large and smooth and often has a thin edge