Diseases

Lynch syndrome

Lynch Syndrome (previously known as HNPCC - Hereditary Non-Polyposis Colon Cancer) is an autosomal dominant cancer predisposition syndrome characterized by colorectal adenocarcinoma without (Lynch Syndrome type I) or with (Lynch Syndrome type II) extra colonic cancers (including ovarian, endometrium, small bowel, stomach, ureter or renal pelvis and others). Lynch syndrome is the most common cause of hereditary bowel cancer. However, fewer than 5 in 100 (5%) of all bowel cancers are linked to Lynch Syndrome.  

Lysine alpha-ketoglutarate reductase deficiency

A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enzyme deficiencies of alpha-aminoadipic semialdehyde dehydrogenase and the SACCHAROPINE DEHYDROGENASES have been associated with hyperlysinemia. Clinical manifestations include mental retardation, recurrent emesis, hypotonia, lethargy, diarrhea, and developmental delay.

Lysinuric protein intolerance

: A rare inborn urea cycle disorder characterized by an enzyme defect in the amino acid transporter gene SLC7A7 (positive amino acid transporter).

Lysosomal acid lipase deficiency

Lysosomal acid lipase deficiency (or LAL deficiency) happens when the body does not produce enough (or none) lysosomal acid lipase (LAL or LIPA) enzyme. This enzyme plays an important role in breaking down fatty material (cholesteryl esters and triglycerides) in the body. Infants, children and adults that suffer from LAL Deficiency experience a range of serious health problems. The lack of the LAL enzyme can lead to a build-up of toxic fatty substances in the body's cells and tissues.

Two rare conditions may result from this deficiency (likely representing two ends of a clinical spectrum): Wolman disease and cholesterol ester storage disease. These conditions are caused by mutations in the LIPA gene and are inherited in an autosomal recessive manner. Enzyme replacement therapy for both Wolman disease and cholesteryl ester storage disease is currently approved for use.

Lysteria monocytoigeneses meningitis

Lysteria monocytoigeneses meningitis: A very rare form of meningitis (bacterial infection of the brain membrane or meninges) caused by Listeria monocytogenes. The condition is more common in the elderly and those with poor immune system and death is common.

MacDermot Winter Syndrome

A very rare syndrome characterized mainly by a small head, underdeveloped genitalia and a protrusion of the area between the eyes (glabella)

Macleod Fraser syndrome

An inherited connective tissue disorder characterized by long thin fingers and contractures involving the knees, elbows, fingers and sometimes other joints.

Macroglossia

Macroglossia is the medical term for unusual enlargement (hypertrophy) of the tongue. Severe enlargement of the tongue can cause cosmetic and functional difficulties including in speaking, eating, swallowing and sleeping.

Macrogyria- pseudobulbar palsy and mental retardation

A very rare syndrome characterized mainly by abnormal brain development which results in mild mental retardation, epilepsy, developmental delay and pseudobulbar palsy which affects speech, chewing and swallowing functions.

Macrophagic myofasciitis

A rare form inflammatory muscle disease which is more predominant in adults. A possible cause is believed to be aluminium found in some vaccines.

Macrothrombocytopenia progressive deafness

A rare inherited disorder characterized by blood clotting problems due to abnormal blood platelet shape and progressive sensorineural hearing loss. The hearing loss starts prior to the 3rd decade with profound hearing loss occurring by the 4th decade. The platelet disorder starts in early childhood but usually causes no symptoms.

Macular dystrophy- concentric annular

A rare genetic eye disorder characterized by the development of a pigmented ring around a central area that appears normal. It is a relatively benign disorder with vision impairment generally occurring later in life

Madelung’s disease

A rare disorder involving defective fat metabolism which leads to a buildup of fat deposits in neck and shoulder area. Mainly occurs in male alcoholics.

Maffucci syndrome

Maffucci syndrome is a sporadic disease characterized by the presence of multiple enchondromas associated with multiple simple or cavernous soft tissue hemangiomas. Also lymphangiomas may be apparent.

Majeed syndrome

A rare syndrome characterized by blood abnormality and recurring bone infections.

Mal de debarquement

Mal de debarquement (or Mal de débarquement) syndrome (MdDS, or common name disembarkment syndrome) is a rare neurological condition usually occurring after a cruise, aircraft flight, or other sustained motion event. The phrase "mal de débarquement" is French for "Sickness from Disembarkation". MdDS is typically diagnosed by a Neurologist or an Ear Nose & Throat Specialist when a person reports a persistent rocking, swaying, or bobbing feeling (though they are not necessarily rocking). This usually follows a cruise or other motion experience. Because most vestibule testing proves to be negative, doctors may be baffled as they attempt to diagnose this rare neurological syndrome. A major diagnostic indicator is that most patients feel better while driving or riding in a car or while in passive motion. The syndrome has recently received increased attention due to the number of people presenting with the condition and more scientific research has commenced now for a number of years to determine what triggers MdDs and how to cure it.

Malakoplakia

Malakoplakia is a rare inflammatory condition which makes its presence known as a papule, plaque or ulceration that usually affects the genitourinary tract. However, it may also be associated with other bodily organs. It was initially described in the early 1900s as soft yellowish plaques found on the mucosa of the urinary bladder. Microscopically it is characterized by the presence of foamy histiocytes with basophilic inclusions called Michaelis-Gutmann bodies.