Kernicterus is a rare neurological disorder characterized by excessive levels of bilirubin in the blood (hyperbilirubinemia) during infancy. Bilirubin is an orange-yellow bile pigment that is a byproduct of the natural breakdown of hemoglobin in red blood cells (hemolysis). Toxic levels of bilirubin may accumulate in the brain, potentially resulting in a variety of symptoms and physical findings. These symptoms may include lack of energy (leth  Read More

Foodborne botulism Signs and symptoms of foodborne botulism typically begin between 12 and 36 hours after the toxin gets into your body. But, depending on how much toxin was consumed, the start of symptoms may range from a few hours to a few days. Signs and symptoms of foodborne botulism include: Difficulty swallowing or speaking Dry mouth Facial weakness on both sides of the face Blurred  Read More

A brain aneurysm(cerebral aneurysm) is a dilation along the arterial circulation within the brain. About 85% of the dilations occur in the anterior circulation, which supplies blood to the anterior parts of the brain. The causes include: hemodynamic stress on the internal elastic lamina, vibrations from the turbulence of blood flow, and T-lymphocytes and macrophages mediated inflammation. Patients with advanced age, hypertensi  Read More

The signs and symptoms of a brain tumor vary greatly and depend on the brain tumor's size, location and rate of growth. General signs and symptoms caused by brain tumors may include: New onset or change in pattern of headaches Headaches that gradually become more frequent and more severe Unexplained nausea or vomiting Vision problems, such as blurred vision, double vision or loss of peripher  Read More

A brain tumor, general, is the mass growth of abnormal cells in the brain. There are different types of brain tumors, some are noncancerous (benign), and some brain tumors are cancerous (malignant). This can begin in the brain or some type of cancer begins in other parts of the body and spreads to the brain. The treatment of brain tumors depends on the location, size and type of tumor. 1. Treatment of brain tumors  Read More

Budd-Chiari syndrome is a rare disorder characterized by narrowing and obstruction (occlusion) of the veins of the liver (hepatic veins). Symptoms associated with Budd Chiari syndrome include pain in the upper right part of the abdomen, an abnormally large liver (hepatomegaly), and/or accumulation of fluid in the space (peritoneal cavity) between the two layers of the membrane that lines the stomach (ascites). Additional findings that may be a  Read More

Japanese Encephalitis is a severe inflammation of the brain caused by the Japanese B Encephalitis Virus that is transmitted by the bite of infected mosquitoes in certain areas of the world, particularly Asia. This disorder most commonly affects children and tends to be more actively spread during the summer. Symptoms include high fever, headaches, weakness, nausea, vomiting, paralysis, personality changes, and coma, possibly leading to neurolo  Read More

A rare and frequently fatal lysosomal storage disorder called galactosylceramide lipidosis causes progressive harm to the nerve system. Galactosylceramide Lipidosis is an autosomal recessive condition marked by abnormal sphingolipid metabolism. The protective covering (myelin sheath) of neurons in the brain and throughout the nervous system is destroyed by this hereditary illness. It typically appears before the age of six mon  Read More

A rare autosomal recessive lysosomal storage condition called galactosylceramidase deficiency is brought on by a lack of galactocerebrosidase. Galactocerebrosidase deficiency is a rare autosomal recessive condition brought on by a lack of the enzyme (GALC, also known as galactosylceramidase). The liposomal hydrolysis of galactolipids produced during white matter myelination is carried out by the enzyme galactocere  Read More

A rare and frequently fatal lysosomal storage disorder called galactosylceramide lipidosis causes progressive harm to the nerve system. Galactosylceramide Lipidosis is an autosomal recessive condition marked by abnormal sphingolipid metabolism. The protective covering (myelin sheath) of neurons in the brain and throughout the nervous system is destroyed by this hereditary illness. It typically appears before the age of six mon  Read More

An uncommon genetic degenerative illness of the central and peripheral nervous systems is known as globoid cell leukoencephalopathy. It is distinguished by the presence of globoid cells (cells with many nuclei), the breakdown of the myelin sheath that protects nerves, and the death of brain cells. These illnesses result in a severe decline in mental and motor abilities and affect the formation or development of th  Read More

Signs and symptoms of Hirschsprung's disease vary with the severity of the condition. Usually signs and symptoms appear shortly after birth, but sometimes they're not apparent until later in life. Typically, the most obvious sign is a newborn's failure to have a bowel movement within 48 hours after birth. Other signs and symptoms in newborns may include: Swollen belly Vomiting, including vomiting a gree  Read More

When a person has holocarboxylase synthetase deficiency, their body is unable to metabolize proteins and carbs. Biotin is a vitamin that aids in the body's conversion of specific carbs and proteins into energy; however, people with this illness have difficulty utilizing it. Because it can result in a dangerous accumulation of organic acids and toxins in the body, holocarboxylase synthetase deficiency is regarded as an organic  Read More

The signs and symptoms of hydrocephalus vary somewhat by age of onset. Infants Common signs and symptoms of hydrocephalus in infants include: Changes in the head An unusually large head A rapid increase in the size of the head A bulging or tense soft spot (fontanel) on the top of the head Physical signs and symptoms Vomiting Sleepiness  Read More

Carbamoyl phosphate synthetase I deficiency (CPSID) is a rare inherited disorder characterized by complete or partial lack of the carbamoyl phosphate synthetase (CPS) enzyme. This is one of five enzymes that play a role in the breakdown and removal of nitrogen from the body, a process known as the urea cycle. The lack of the CPSI enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood. Affect  Read More

Ornithine transcarbamylase (OTC) deficiency is a rare X-linked genetic disorder characterized by complete or partial lack of the enzyme ornithine transcarbamylase (OTC). OTC is one of six enzymes that play a role in the break down and removal of nitrogen the body, a process known as the urea cycle. The lack of the OTC enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood. Excess ammonia, wh  Read More

Propionic Acidemia is a rare metabolic disorder characterized by deficiency of propionyl CoA carboxylase, an enzyme involved in the breakdown (catabolism) of the chemical "building blocks" (amino acids) of certain proteins. Symptoms most commonly become apparent during the first weeks of life and may include abnormally diminished muscle tone (hypotonia), poor feeding, vomiting, listlessness (lethargy), excessive loss of fluids from bodily tiss  Read More

Small and medium-sized arteries in people with kohlmeier-degos disease develop blockages (occlusive arteriopathy), which reduces the amount of blood that can reach the affected areas. Typical skin lesions associated with Degos disease can develop and last anywhere from a few weeks to several years. Some people will only experience the skin-specific symptoms of Degos illness (benign cutaneous Degos disease), whereas other peopl  Read More

A multisystem condition called Lowe Bickel syndrome, also known as the oculocerebrorenal syndrome of Lowe (OCRL) is characterized by irregularities affecting the kidney, neurological system, and eye. It is a rare, pan-ethnic, X-linked disease with an estimated prevalence of 1 in 500,000 in the general population. At birth, babies have a severe hypotonia condition and a bilateral cataract. A proximal renal tubulopathy (Fanconi-  Read More

Early meningitis symptoms may mimic the flu (influenza). Symptoms may develop over several hours or over a few days. Possible signs and symptoms in anyone older than the age of 2 include: Sudden high fever Stiff neck Severe headache that seems different than normal Headache with nausea or vomiting Confusion or difficulty concentrating Seizures Sleepiness or diff  Read More

Leigh syndrome is a rare genetic neurometabolic disorder. It is characterized by the degeneration of the central nervous system (i.e., brain, spinal cord, and optic nerve). The symptoms of Leigh syndrome usually begin between the ages of three months and two years. Symptoms are associated with progressive neurological deterioration and may include loss of previously acquired motor skills, loss of appetite, vomiting, irritability, and/or seizur  Read More

Optic neuromyelitis, also known as Devic's disorder or neuromyelitis optica, is a central nervous system disease that primarily affects the eye and spinal cord. Effects on the eyes are referred to as optic neuritis, whereas those on the spinal cord are called myelitis. The clinical manifestations are blindness in one or both eyes, weakness or paralysis in the legs or arms, painful spasms, loss of sensation, uncontrollable vomi  Read More

Pineal cysts, Symptomatic are commonly found in individuals in their 40s. Cysts refer to the closed structures formed by one or more layers of tissues filled with fluid. Pineal cysts are made of the inner layer of gliotic cells, a middle layer of pineal parenchyma, and an outer layer of connective tissue. The fluid is proteinaceous. Cysts are either typical (unilocular) or atypical (multilocular with septations). Usually, the  Read More

Pseudotumor cerebri literally means "false brain tumor." It is likely due to high pressure within the skull caused by the buildup or poor absorption of cerebrospinal fluid (CSF). The disorder is most common in women between the ages of 20 and 50.  Read More

In Reye's syndrome, a child's blood sugar level typically drops while the levels of ammonia and acidity in his or her blood rise. At the same time, the liver may swell and develop fatty deposits. Swelling may also occur in the brain, which can cause seizures, convulsions or loss of consciousness. The signs and symptoms of Reye's syndrome typically appear about three to five days after the onset of a viral infection, such as the flu (in  Read More

Japanese Encephalitis is a severe inflammation of the brain caused by the Japanese B Encephalitis Virus that is transmitted by the bite of infected mosquitoes in certain areas of the world, particularly Asia. This disorder most commonly affects children and tends to be more actively spread during the summer. Symptoms include high fever, headaches, weakness, nausea, vomiting, paralysis, personality changes, and coma, possibly leading to neurolo  Read More

Leigh syndrome is a rare genetic neurometabolic disorder. It is characterized by the degeneration of the central nervous system (i.e., brain, spinal cord, and optic nerve). The symptoms of Leigh syndrome usually begin between the ages of three months and two years. Symptoms are associated with progressive neurological deterioration and may include loss of previously acquired motor skills, loss of appetite, vomiting, irritability, and/or seizur  Read More

Systemic mastocytosis (mas-to-sy-TOE-sis) is an uncommon condition in which too many mast cells accumulate in the body. Mast cells are a kind of white blood cell. Mast cells can be found in connective tissues all over your body. Mast cells aid in the efficient functioning of your immune system and, in most cases, help shield you from disease. Excess mast cells accumulate in your skin, bone marrow, digestive tract,  Read More

The disorder known as von hippel-lindau (VHL) disease is hereditary (inherited). People with VHL have an increased risk of developing cancers in their eyes, kidneys, pancreas, adrenal glands, brain, spinal cord, and early adulthood. Most of the time, these tumors are benign (not cancer), but some of them can be malignant (cancerous). Is the von Hippel-Lindau (VHL) disease manageable? There is a 50% ri  Read More