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

Cyclic neutropenia is a rare blood disorder characterized by recurrent episodes of abnormally low levels of certain white blood cells (neutrophils) in the body. Neutrophils are instrumental in fighting off infection by surrounding and destroying bacteria that enter the body. Symptoms associated with cyclic neutropenia may include fever, a general feeling of ill health (malaise), and/or sores (ulcers) of the mucous membranes of the mouth. In mo  Read More

Encephalitis is an inflammation of the brain. Meningitis is an inflammation of the membranes (called meninges) that surround the brain and spinal cord. Both infections can be caused by bacteria or viruses and rarely a fungus. Headache and fever are the most common symptoms of encephalitis and meningitis. Stiff neck, confusion, or lethargy can also be present. The diagnosis is usually made by performing a lumb  Read More

Herpes simplex encephalitis (HSE) is a rare neurological disorder characterized by inflammation of the brain (encephalitis). Common symptoms include headaches, fevers, drowsiness, hyperactivity, and/or general weakness. The disorder may have some symptoms similar to those associated with meningitis, such as a stiff neck, altered reflexes, confusion, and/or speech abnormalities. Skin lesions usually are not found in association with herpes simp  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

Because epilepsy is caused by abnormal activity in the brain, seizures can affect any process your brain coordinates. Seizure signs and symptoms may include: Temporary confusion A staring spell Uncontrollable jerking movements of the arms and legs Loss of consciousness or awareness Psychic symptoms such as fear, anxiety or deja vu Symptoms vary depending on the type of seiz  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

At birth, infants with galb deficiency appear healthy, but by 8 to 15 months, they stop growing and start losing their learned skills (developmental regression). Affected people experience seizures and blindness as the illness worsens, and gradually they lose consciousness of their surroundings and become slow to react. Most people who have this type of illness do not live into early childhood. Children with the c  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

No two cases of lupus are exactly alike. Signs and symptoms may come on suddenly or develop slowly, may be mild or severe, and may be temporary or permanent. Most people with lupus have mild disease characterized by episodes — called flares — when signs and symptoms get worse for a while, then improve or even disappear completely for a time. The signs and symptoms of lupus that you experience will depend on which body syste  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

Often, the first sign of hyperoxaluria is a kidney stone. Symptoms of a kidney stone can include: Severe or sudden back pain Pain in the area below the ribs on the back (flank) that doesn't go away Blood in the urine Frequent urge to urinate Pain when urinating Chills or fever When to see a doctor Kidney stones in childhood are uncommon. Kidney stones th  Read More

Phlebitis is an inflammation of veins, whereas thrombophlebitis is phlebitis with the clotting of blood in the affected vein. Treatment Supportive therapy includes elevation of the affected extremity, nonsteroidal anti-inflammatory drugs, warm or cold compress, compression stockings, and increased ambulation. 1. Superficial thrombophlebitis An intermediate subcutaneous dose of low-molecular-weigh  Read More

Thrombotic thrombocytopenic purpura is a rare condition that leads to blood clots to build small blood vessels across the course of the body. Clots like these can result in severe medical issues if they end up blocking blood vessels and restrict the flow of blood to organs like the brain, kidneys and the heart. A protein of ADAMTS13 enzyme in the blood plays a role in blood clotting. An inadequacy in the ADAMTS13  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

Felty syndrome is usually described as associated with or a complication of rheumatoid arthritis. This disorder is generally defined by the presence of three conditions: rheumatoid arthritis (RA), an enlarged spleen (spenomelgaly) and a low white blood cell count (neutropenia). The presence of RA gives rise to painful, stiff and swollen joints. A low white blood cell count, especially when accompanied by an abnormally large spleen, leads to a  Read More