Maffucci syndrome is a congenital nonhereditary mesodermal dysplasia characterised by multiple enchondromas with soft-tissue venous malformations (haemangiomas).
On imaging, it is usually portrayed by a short limb with metaphyseal distortions due to multiple enchondromas, which may appear grote...
Marchiafava-Bignami disease (MBD) is a rare CNS disorder usually seen in the context of alcoholism and malnutrition. The condition classically involves the corpus callosum with necrosis and demyelination.
MBD is in most instances seen in chronic alcoholics, and as such the epidem...
Marfan syndrome is a multisystem connective tissue disease with autosomal dominant inheritance of defect in fibrillin 1 gene. The affected patients are tall with long disproportionate extremities and have pectus excavatum, arachnodactyly, and may also experience upward and lateral optic lens dis...
Marine-Lenhart syndrome refers to a variant of Graves' disease where there are coexistent autonomous thyroid nodules. It is better described as Graves' disease with coexistent with multinodular goiter or nodular Graves' disease 1, as most authors consider it a distinct sub-entity of Graves’ .
May-Thurner syndrome refers to a chronic compression of the left common iliac vein (CIV) against the lumbar vertebrae by the overlying right common iliac artery (CIA), with or without deep venous thrombosis 2.
Although both left and right CIVs lie deep to the right common iliac artery, the left...
Mazabraud syndrome is a rare syndrome comprising of:
fibrous dysplasia: usually polyostotic 2
multiple soft tissue myxomas (intramuscular myxomas): typically in large muscle groups
It is most frequently seen in women (~70%) and usually present in middle age (mean age 46; range 1...
McCune-Albright syndrome (MAS) is a genetic disorder characterised by the association of:
endocrinopathy: precocious puberty
polyostotic fibrous dysplasia: more severe than in sporadic cases
cutaneous pigmentation: coast of Maine 'cafe au lait' spots
Presentation is va...
McKusick Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome primarily characterised by
hydrometrocolpos - vaginal atresia
congenital heart disease
Meconium plug syndrome refers to a functional colonic obstruction in a newborn due to an obstructing meconium plug. It is usually transient and affects the left colon with meconium plugging the bowel distal to this segment. In this situation, it is also termed the small left colon syndrome.
Medial medullary syndrome, also known as Dejerine syndrome, represents less than 1% of brainstem stroke syndromes 1,2. Thrombotic or embolic occlusion of small perforating branches from vertebral or proximal basilar artery supplying the medial aspect of medulla oblongata cause this rare syndrome...
Medial patellar plica syndrome is one of the conditions that can be associated with the presence of synovial plicae of the knee (in this instance a medial plica). It can be a common source of anterior knee pain.
While it can affect those of any age, it typically involves the young...
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) (also known as the Berdon syndrome) is a rare congenital disorder characterised by a dilated non-obstructive urinary bladder and hypoperistalsis of the gastrointestinal tract.
There is recognised strong female predi...
Mendelson syndrome or peptic pneumonia refers to acute chemical pneumonitis caused by the aspiration of stomach contents in patients under general anesthesia.
The etiologic agents is believed to be aspiration of acidic stomach contents, other compounds, e.g. bile, may also play a rol...
Meningothelial hyperplasia is a poorly defined and likely reactive process characterised by a non-invasive, multicentric proliferation of meningothelial arachnoid cap cells. It is one of the causes of pachymeningeal dural thickening. It is not thought to a neoplastic process or even a precursor ...
Menkes disease, also known as trichopoliodystrophy or Kinky hair kinky vessel syndrome, is an X-linked recessive disorder that results in a derangement in copper handling. It results in low copper levels and subsequently, deficiency in copper dependant mitochondrial enzymes.
MERRF (myoclonic epilepsy with red ragged fibres) is a rare, multisystem mitochondrial disorder.
Patients usually present in late adolescence or early adulthood with 1,2,3
vision and/or hearing loss
Metronidazole, which is used to treat a wide variety of bacterial and protozoal infections can, in exceedingly rare cases, lead to central nervous system toxicity.
In a review of the case literature 1, affected patients range widely in age, with the peak incidence occurring in the...
Midaortic syndrome (MAS) is an uncommon entity affecting children and young adults. It is characterised by progressive narrowing of the abdominal aorta and its major branches.
The onset of symptoms is usually during young adulthood or childhood 2:
hypertension (most comm...
Middle East Respiratory Syndrome coronavirus (MERS-CoV) infection is an uncommon viral infection (<1000 cases) with the first case reported in Saudi Arabia in 2012. It most commonly causes pneumonia and acute renal failure with a mortality rate of ~40%. MERS-CoV raises concern because of its sim...
Mikulicz syndrome was considered a form of Sjögren syndrome (type 1) however more recently it is considered in IgG4 related disease spectrum. It is a non-specific inflammatory enlargement of at least two or more of the salivary and lacrimal glands with xerostomia.
It may also be referred to b...
Milk-alkali syndrome is the combination of:
It is due to the large amounts of calcium and alkali being ingested (e.g. milk and antacids for peptic ulcer disease treatment or calcium carbonate for osteoporosis). It is a cause of medullary nephr...
Milwaukee shoulder refers to a destructive shoulder arthropathy due to deposition of hydroxyapatite crystals, and identification of these crystals in synovial fluid is the cornerstone of diagnosis.
Milwaukee shoulder frequently affects older women, often with a history of trauma t...
The Mirizzi syndrome refers to an uncommon phenomenon which results in extrinsic compression of an extrahepatic biliary duct from one or more calculi within the cystic duct or gallbladder. It is a functional hepatic syndrome but can often present with biliary duct dilatation and can mimic other ...
Möbius syndrome, also known as congenital facial diplegia syndrome, is a rare congenital condition characterised by the absence or underdevelopment of the abducens nerve (CN VI) and facial nerve (CN VII) nuclei.
Möbius syndrome is rare with an estimated incidence of ~1 case per 10...
Morgagni syndrome consists of the triad of:
hyperostosis frontalis interna
virilism and hirsutism
History and etymology
It was first described in 1765 by the Italian anatomist and pathologist Giovanni Battista Morgagni (1682-1771)
Morquio syndrome is an autosomal recessive mucopolysaccharidosis (MPS), type IV.
Incidence estimated at ~1:40,000.
Many cases present at ~2 years of age and have normal intelligence. Clinical features:
severe dwarfism (<4 foot)
Mucopolysaccharidoses (MPS) constitute a group of hereditary disorders, one of a number of lysosomal storage disorders, having in common an excessive accumulation of mucopolysaccharides secondary to deficiencies in specific enzymes (lysosomal hydrolases) responsible for degradation of mucopolysa...
Multiple endocrine neoplasia (MEN) syndromes are a collection of syndromes characterised by the presence of, as the name would suggest, multiple endocrine tumours. They are autosomal dominant in inheritance.
MEN I (Wermer syndrome)
MEN II (multiple endocrine adenomatosis)
MEN IIa (Sipple synd...
Multiple endocrine neoplasia (MEN) type I is also known as Wermer syndrome.
Primary hyperparathyroidism is one of the commonest presentations.
The abnormality is related to a tumour suppressor gene located in chromosome 11q13. MEN type I is an autosomal domina...
Multiple endocrine neoplasia (MEN) type IIa, also known as Sipple syndrome, accounts for most cases of MEN II and is characterised by:
pheochromocytomas: in 50% of patients, often bilateral, and can be extra-adrenal
medullary thyroid cancer: 100% of patients, aggressive, and may secrete calcit...
Multiple endocrine neoplasia (MEN) type IIb, also known as mucosal neuroma syndrome 3, accounts for only 5% cases of MEN II and is characterised by:
pheochromocytoma(s): in 50% of patients, often bilateral, and can be extra-adrenal
medullary thyroid cancer: 100% of patients; aggressive, and ma...