Health and Fitness

LEPR Deficiency Overview LEPR deficiency is a rare, inherited condition that affects how the body processes energy, responds to food and stores fat. Most people with this condition are obese before one year of age. Other symptoms include constant hunger and abnormal behaviors related to food. People affected with LEPR deficiency have low levels of sex hormones (hypogonadotropic hypogonadism) resulting in late or absent puberty and infertility. LEPR deficiency is caused by changes (mutations or variants) in the LEPR gene, which is responsible for making the receptor that interacts with a protein called leptin. Leptin is important for regulating appetite and growth of body fat. This condition is inherited in an autosomal recessive pattern. Diagnosis is based on a clinical examination, symptoms and the results of genetic testing. Diet, behavior modification, exercise programs and bariatric surgery have been used to help manage the symptoms of LEPR deficiency. Treatment is available for th...

Lenz Microphthalmia Syndrome Overview Lenz microphthalmia syndrome is an extremely rare inherited disorder characterized by small eyes (microphthalmos or microphthalmia) and/or droopy eyelids (blepharoptosis), resulting in visual impairment. Rarely, affected infants may exhibit complete absence of the eyes (anophthalmos or anophthalmia). Additional physical anomalies are often associated, including a small head (microcephaly) and/or anomalies of the teeth, ears and/or fingers and/or toes (digits). The range and severity of findings may vary from person to person. Most affected children also exhibit developmental delays and intellectual disability. Lenz microphthalmia syndrome is caused by pathogenic variants, or changes, in the BCOR gene and is inherited in an X-linked pattern. This condition is fully expressed in males only. However, females who carry a variant BCOR gene may exhibit some symptoms, such as microcephaly, short stature and/or anomalies of the fingers and/or toes Symptoms...

Lennox-Gastaut Syndrome (LGS) Overview Lennox-Gastaut syndrome (LGS) is a type of severe epilepsy that appears during childhood. This condition is particularly serious and difficult to treat, and it usually has severe effects. However, there are several newer medications approved to treat this condition, and there are also possible nonmedication treatments Lennox-Gastaut syndrome is a condition that almost always starts before age 10, with a diagnosis most likely to happen between ages 3 and 5. It’s slightly more common in male children. Epilepsy refers to a family of conditions that cause malfunctions in how brain cells send signals to each other. Lennox-Gastaut syndrome is a particularly severe type of epilepsy for the following reasons: LGS causes multiple types of seizures. Some of these types of seizures are more likely to cause severe injuries. The seizures often damage the brain itself. LGS very commonly causes severe brain damage, leading to learning difficulties and developmen...

  Leishmaniasis Overview Leishmaniasis (pronounced “leesh-muh-NAI-uh-suhs”) is a group of illnesses caused by many types of Leishmania parasites. You get it from sand fly bites. It can cause disfiguring skin ulcers and life-threatening illnesses. Leishmania parasites are protozoa, one-celled organisms that are too small to see without a microscope. The two most common kinds are cutaneous leishmaniasis and visceral leishmaniasis. Leishmaniasis most often affects people living in rural areas of tropical regions or areas with inadequate sanitation. People with HIV and other conditions that weaken their immune system are more likely to get sick from a Leishmania infection Types of leishmaniasis Leishmaniasis falls into three main categories: cutaneous, mucosal (or mucocutaneous) and visceral. Cutaneous leishmaniasis Cutaneous leishmaniasis (CL) is an infection in your skin where a sand fly bit you. It causes bumps (nodules) that turn into large ulcers over time. It can take a long time...

 Leiomyosarcoma Overview Leiomyosarcoma is a rare type of cancer that begins in smooth muscle tissue. Smooth muscle tissue is found in many areas of the body, such as the digestive system, urinary system, blood vessels and uterus. Leiomyosarcoma most often begins in the abdomen or uterus. It starts as a growth of abnormal cells and often grows quickly to invade and destroy normal body tissue. Signs and symptoms of leiomyosarcoma depend on where the cancer starts. They might include pain, weight loss, and a growing lump or swelling that can be felt through the skin. Leiomyosarcoma is a type of soft tissue sarcoma, which is a broad category of cancers that begin in the tissues that connect, support and surround other body structures. Different types of leiomyosarcoma There are three different types of leiomyosarcoma. These include: Somatic soft tissue LMS. This type of leiomyosarcoma affects your body’s connective tissue. It’s the most common form of LMS. Cutaneous or subcutaneous L...

 Leigh Syndrome (Leigh’s Disease) Overview Leigh syndrome (also called Leigh’s disease) is a rare genetic condition that affects your child’s central nervous system. A newborn with Leigh syndrome seems healthy at birth. Over time, cells in their nervous system break down or degenerate. Symptoms, such as feeding problems, seizures and continuous crying, tend to occur when your child is between 3 months and 2 years old. An inherited gene change (mutation) causes Leigh syndrome. It’s a type of mitochondrial disease. Unfortunately, there isn’t a cure. The condition is fatal, with most children passing away by age 3. In rare instances, the condition develops during adolescence or adulthood. Mitochondria are your body’s energy factories. These tiny cellular structures convert the energy in fatty acids and glucose into a substance called adenosine triphosphate (ATP). This substance energizes cells. All cells (except red blood cells) have mitochondria. Mitochondrial diseases occur when mit...

  Legionnaires' Disease Overview Legionnaires’ (LEE-juh-nares) disease is a type of pneumonia (lung infection) you get from breathing in Legionella bacteria. It can affect your lungs, brain and gut (gastrointestinal tract). Legionella also causes Pontiac fever, a less serious illness with flu-like symptoms. Legionnaires’ disease can be life-threatening. You get Legionnaires’ disease when Legionella infects your lungs. Most people with Legionnaires’ disease who are hospitalized have fever and cough but may also have other pulmonary symptoms such as diarrhea and confusion. Most people don’t get Legionnaires’ disease, even if they’ve been around Legionella bacteria. But some people are more likely to get sick with a Legionella infection than others. You have an increased risk of getting Legionnaires’ disease if you: Are older than 50. Smoke or used to smoke cigarettes. Have a weakened immune system. Certain medical conditions (like HIV, diabetes, cancer and kidney or liver disease) an...

  Legg–Calve–Perthes disease Overview Legg-Calve-Perthes (LEG-kahl-VAY-PER-tuz) disease is a childhood condition that occurs when blood supply to the ball part (femoral head) of the hip joint is temporarily interrupted and the bone begins to die. This weakened bone gradually breaks apart and can lose its round shape. The body eventually restores blood supply to the ball, and the ball heals. But if the ball is no longer round after it heals, it can cause pain and stiffness. The complete process of bone death, fracture and renewal can take several years. To keep the ball part of the joint as round as possible, doctors use a variety of treatments that keep it snug in the socket portion of the joint. The socket acts as a mold for the fragmented femoral head as it heals. Symptoms Symptoms of Perthes disease include: Limping. Pain or stiffness in the hip, groin, thigh or knee. Limited range of motion of the hip joint. Pain that worsens with activity and improves with rest. Perthes diseas...

Biliary Atresia Overview Biliary atresia is a condition in which your baby’s bile ducts are blocked and can’t send bile from their liver to their small intestine. Bile is a substance your baby’s liver produces that carries waste products to their intestines. Bile also helps your baby’s intestines digest and absorb vital nutrients. Biliary atresia affects babies in their first few months of life and can quickly lead to severe liver damage without prompt treatment. A slowdown or stalling of bile flow (cholestasis) affects your baby’s liver and all the organs and tissues surrounding it. Bile clogs up in your baby’s liver and causes scarring that can prevent their liver from working normally. Also, their intestines can’t receive the bile needed to break down nutrients and support their growth. Biliary atresia is a serious condition, but surgery can create a new path for bile to flow from your baby’s liver. This relieves symptoms and helps with digestion. However, due to liver damage, many ...