EPONYMOUS Diseases/signs Flashcards
KLATSKIN
Klatskin tumour is a term that was traditionally given to a hilar (perihilar) cholangiocarcinoma, occurring at the bifurcation of the common hepatic duct. Typically, these tumours are small, poorly differentiated, exhibit aggressive biologic behaviour, and tend to obstruct the intrahepatic bile ducts.
Epidemiology
They are thought to account for up to 25% of all cholangiocarcinomas 1.
Pathology
Classification
Prognostic staging is defined by the TNM system: perihilar cholangiocarcinoma (staging).
The Bismuth-Corlette system is an anatomic classification well known by surgeons used for preoperative assessment.
Radiographic features
For general imaging features of a cholangiocarcinoma, refer to the main article.
Ultrasound
The presence of a hilar mass with obstruction would raise concern on ultrasound. The reported echotexture according to one study 5:
increased echogenicity relative to surrounding liver ~80%
reduced echogenicity ~20%
mixed echogenicity ~2%
Ultrasound may also show an intraluminal mass extending into the bile duct and in a small proportion of cases (4%), there may also be evidence of bile duct wall thickening.
CT
CT demonstrates the intrahepatic biliary radical dilatation. The tumour mass itself is ill-defined and usually invisible, but hilar necrotic lymph nodes or hepatic metastatic deposits can be identified.
MRI/MRCP
MRCP with its 3D capability is superior to CT to delineate the degree and location of the biliary tree stricture. It is the gold standard method for diagnosis of hilar cholangiocarcinoma. Shouldering and abrupt tapering at the stricture site suggests the diagnosis. Identifying the exact location and involvement can help in preoperative classification.
History and etymology
It is named after Gerald Klatskin (1910-86), American pathologist, New York.
Differential diagnosis
Imaging differential considerations include:
biliary inflammatory pseudotumour: can be indistinguishable on imaging 6
hepatic tuberculosis 8
autoimmune cholangitis 9
benign fibrosing disease at the hepatic confluence 10
hepatocellular carcinoma 11
gallbladder carcinoma (invading the bile duct) 12
Caroli
Caroli disease and Caroli syndrome are congenital disorders comprising of multifocal cystic dilatation of segmental intrahepatic bile ducts. However, some series show that extrahepatic duct involvement may exist. They are also classified as a type V choledochal cyst, according to the Todani classification.
Terminology
Caroli disease is limited to the dilatation of larger intrahepatic bile ducts, whereas Caroli syndrome describes the combination of small bile ducts dilatation and congenital hepatic fibrosis.
Epidemiology
Caroli disease and Caroli syndrome are rare autosomal recessive disorders with a slight female predilection.
Clinical presentation
Presentation is in childhood or young adulthood. Caroli disease presents with right upper quadrant pain, recurrent cholelithiasis, and cholangitis with fever and jaundice. Caroli syndrome presents with the previous symptoms along with signs of portal hypertension, including haematemesis and melaena secondary to bleeding varices.
Pathology
Pathologically, Caroli disease and Caroli syndrome belong to the spectrum of fibropolycystic liver disease which results from in utero malformation of the ductal plate 4. There is a high association with fibrocystic anomalies of the kidneys which share the same genetic defect (PKHD1 gene, chromosome region 6p21) 5.
The ductal plate is a layer of hepatic precursor cells that surround the portal venous branches and is the anlage of the intrahepatic bile ducts. The manifestation of ductal plate malformation depends on the level of the biliary tree that is affected 3-5.
Thus, Caroli disease (the simple type) results from the abnormal development of the large bile ducts.
In contrast, in Caroli syndrome (the periportal type of Caroli disease), both the central intrahepatic bile ducts and the ductal plates of the smaller peripheral bile ducts are affected, with the latter leading to the development of fibrosis.
At the other end of the fibropolycystic disease spectrum are von Meyenburg complexes, also known as biliary hamartomas which result from discrete foci of ductal plate malformation affecting the smallest bile ducts 5.
Associations
simple Caroli disease is uncommon; it occurs more frequently with congenital hepatic fibrosis, constituting the Caroli syndrome
medullary sponge kidney
autosomal dominant polycystic kidney disease (ADPKD)
autosomal recessive polycystic kidney disease (ARPKD)
Radiographic features
The disease may be diffuse, lobar or segmental. Dilatation is most frequently saccular rather than fusiform, a feature that might help in the differential diagnosis.
Ultrasound
may show dilated intrahepatic bile ducts (IHBD)
intraductal bridging: echogenic septa traversing the dilated bile duct lumen
small portal venous branches partially or completely surrounded by dilated bile ducts 1,3
the intraluminal portal vein sign: dilated ducts surrounding the portal vein
intraductal calculi
CT
multiple hypodense rounded areas which are inseparable from the dilated intrahepatic bile ducts
“central dot” sign: enhancing dots within the dilated intrahepatic bile ducts, representing portal radicles 1
MRI
T1: hypointense dilatation of IHBD
T2: hyperintense
T1 C+ (Gd): enhancement of the central portal radicles within the dilated IHBD 1
MRCP: demonstrates continuity with the biliary tree
Nuclear medicine
Intrahepatic bile ducts can have a beaded appearance on HIDA scans 8.
Treatment and prognosis
Prognosis is generally poor. If the disease is localised, segmentectomy or lobectomy may be offered. In diffuse disease management is generally with conservative measures; liver transplantation may be an option 1.
Complications
simple type
intrahepatic stone formation
recurrent cholangitis that may lead to bacteraemia and sepsis
hepatic abscesses
periportal fibrosis type
cirrhosis and portal hypertension
hepatomegaly
ascites
varices
there is an increased risk of cholangiocarcinoma, which develops in 7% of patients 1
History and etymology
It is named after Jacques Caroli (1902-1979), a French gastroenterologist, who described it in 1958 7.
Differential diagnosis
polycystic liver disease
no associated biliary duct dilatation
rarely communicate with the biliary ducts
peribiliary cysts
choledochal cyst
biliary hamartomas
may be cystic
primary sclerosing cholangitis
dilatation typically more fusiform and isolated;
associated inflammatory bowel disease in 70% of caucasian patients
recurrent pyogenic cholangitis
both present with sepsis and biliary dilatation
saccular (vs fusiform) dilatation favours Caroli disease 2
obstructive biliary dilatation
For a further CT differential, consider also focal hypodense hepatic lesions on a non-contrast CT scan.
Jacques Caroli
Born 1902
Died 1979
Related eponyms
Caroli’s disease I
Caroli’s disease II
Caroli’s syndrome
Caroli’s triad
French gastroenterologist, born May 21, 1902, near Versailles; died 1979, Paris.
Biography of Jacques Caroli
Jacques Caroli was born in 1902 near Versailles. He began his medical training in Angers and continued his studies in Paris under Henri Albert Charles Antoine Hartmann (1860-1952). After World War II he joined the faculty of the hospital Saint-Antoine in Paris, where he was chief of service for 30 years.
In 1976 he was honoured with the rank of commander of the Legion of Honour – Commandeur de la Légion d’Honneur.
We thank Joseph Constantin, France, and Chris Wells, USA, for information submitted
VON MEYENBURG
Von meyenburg Complex
- AKA bile duct hamartoma/adenoma
- Benign tumour composed of disorganised bile ducts and ductules and fibrocollagenous stroma.
- usually small 1-5mm
- however the nodules may coalesce into larger masses.
- Bile duct hamartoma is benign, however, there have been reports of an association of cholangioca with multiple bile duct hamartomas
Hans von Meyenburg
Born 1887
Died
Related eponyms
Meyenburg’s disease
Meyenburg-Altherr-Uehlinger syndrome
Von Meyenburg’s complex
German pathologist, born June 6, 1887, Dresden.
Biography of Hans von Meyenburg
Hans von Meyenburg attended the universities of Zurich, Munich, Kiel, and Berlin, obtaining his doctorate at Zurich in 1912. He spent his internship and period as assistant at the Zurich surgical clinic under Ernst Ferdinand Sauerbruch (1875-1951) and at the pathological institutes in Munich and Zurich. He was habilitated for pathological anatomy and general pathology at Zurich in 1918, becoming ausserordentlicher Professor at Lausanne in 1919, ordentlicher Professor 1921. In 1925 he followed a call to the chair in Zurich. His works concern the study of pathological anatomy, particularly tumours.
LUSCHKA
The bile ducts of Luschka, or subvesical ducts, are small ducts which originate from the right hepatic lobe, course along the gallbladder fossa, and usually drain in the extrahepatic bile ducts. Injuries to these ducts are the second most frequent cause of postcholecystectomy bile leaks.
Hubert von Luschka, born Hubert Luschka (July 27, 1820 in Konstanz – March 1, 1875 in Tübingen), was a German anatomist. He lent his name to several structures, including the foramina of Luschka, Luschka’s crypts, Luschka’s joints, and Ducts of Luschka. His name is also associated with Luschka’s law, an anatomical rule concerning location of the ureters.[1]
https://en.wikipedia.org/wiki/Hubert_von_Luschka
MORISON
Morison’s pouch is an area between your liver and your right kidney. It’s also called the hepatorenal recess or right subhepatic space. Morison’s pouch is a potential space that can open up when fluid or blood enters the area. When these aren’t present, there’s no space between your liver and right kidney.
Complication of Cholecystectomy: stones dropped in peritoneal cavity (Morison Pouch)
James Rutherford Morison
Born 1853
Died 1939
Related eponyms
Morison’s pouch
British surgeon, 1853–1939.
BISMUTH
Bismuth classification of bile duct injury
Based on the level of traumatic injury in relation to the confluence of the LHD and the RHD
type 1: Injury >2cm distal to the confluence
type 2: injury < 2cm distal to confluence
Type 3: Injury immediately distal to confluence but with intact confluence
Type 4: A destroyed confluence
COURVOISIER
Courvoisier sign or Courvoisier-Terrier sign states that in a patient with painless jaundice and an enlarged gallbladder (or right upper quadrant mass), the cause is unlikely to be gallstones and therefore presumes the cause to be an obstructing pancreatic or biliary neoplasm until proven otherwise 1.
See article: pancreatic adenocarcinoma
History and etymology
The sign was described by Swiss surgeon Ludwig Georg Courvoisier (1843-1918) in 1890 1,2.
https://radiopaedia.org/cases/malignant-biliary-obstruction-courvoisier-sign
Distended gall bladder and biliary tree down to the distal end where there is a small (3 cm) pancreatic head mass. Note also pancreatic duct enlargement.
Case Discussion
Courvoisier sign states that in the presence of an enlarged gallbladder which is non-tender and accompanied by jaundice, the cause is unlikely to be gallstones and suspicious for pancreatic/periampullary malignant mass obstructing distal CBD. Here we have the CT and US correlates.
It is usually used to describe the physical examination finding of a painless right-upper quadrant mass in the abdomen in a jaundiced patient.
WHIPPLES TRIAD
- Symptoms of Insulinoma
Typically insulinomas present with Whipple’s triad consisting of:
- fasting hypoglycaemia (<50 mg/dL)
- symptoms of hypoglycaemia (due to subsequent catecholamine release)
- immediate relief of symptoms after the administration of IV glucose
As with other endocrine tumours of the pancreas, there is an association with multiple endocrine neoplasia type I (MEN I).
Allen Oldfather Whipple was an American surgeon who is known for the pancreatic cancer operation which bears his name as well as Whipple’s triad. Whipple was born to missionary parents Williaam Levi Whipple and Mary Louise Whipple, in Urmia, West Azerbaijan, Iran. Wikipedia
ZOLLINGER-ELLISON
FRANTZ
Gruber-Frantz tumour is a rare cystic neoplasm of the pancreas that is most frequently seen in young females. Cystic pancreatic neoplasms are commonly misdiagnosed as pancreatic pseudocysts that are, by far, the most common cystic lesions of the pancreas. The presence of cystic pancreatic mass in the absence of a history of pancreatitis must be regarded with great suspicion and investigated thoroughly. These tumours are important because even benign tumours have a malignant potential and correct treatment by total surgical resection is curative. Prognosis is very good unlike in ductal adenocarcinomas of the pancreas.
Virginia Kneeland Frantz (November 13, 1896 – August 23, 1967) was a pathologist and educator credited with a series of discoveries in the study of thyroid, breast and pancreatic tumors. From 1924 to 1962 she taught surgery at Columbia University College of Physicians and Surgeons, becoming a full professor in 1951.
Her major achievements include:
In 1922, New York Presbyterian Hospital, first woman surgery intern
In 1935, she and Allen O. Whipple described the insulin secretion of pancreatic tumors.
In 1959, she wrote a study on tumors of the pancreas which became the standard text in the field[1]
In 1961 she became the first female president of the American Thyroid Association.
BEZOLD
Left otomastoiditis is evident by thick collection in middle ear cavity and mastoid air cells, with bony erosion. There is a collection close to attachment to digastric and sternomastoid muscles within subcutaneous and subperiosteal planes which communicates with the mastoid antrum.
Case Discussion
Bezold abscess, although not a frequent complication, presents typically as cunatenous swelling in a case of chronic suppurative otitis media.
Case courtesy of Dr Praveen Jha, Radiopaedia.org, rID: 37981
GRADENIGO
Gradenigo syndrome consists of the triad of:
petrous apicitis
abducens nerve palsy, secondary to involvement of the nerve as it passes through Dorello canal
retro-orbital pain, or pain in the cutaneous distribution of the frontal and maxillary divisions of the trigeminal nerve, due to extension of inflammation into Meckel cave
Pathology
Common pathogens are Pseudomonas and Enterococcus spp.
History and etymology
It was first described in 1907 by Giuseppe Conte Gradenigo (1859-1926), Italian otolaryngologist 2,3.
WILKIE
Superior mesenteric artery syndrome, or Wilkie syndrome, was first described in 1861 by Von Rokitansky. It is an uncommon but well-recognized clinical entity characterized by compression of the third, or transverse, portion of the duodenum between the aorta and the superior mesenteric artery.
What condition is shown here?
What is the anatomy?
what is the diverticulum?
- Right AA With Aberrant LSA
- Interruption #3 on Fig. 2.59 .
- Only 5% have symptoms secondary to airway or esophageal compression.
- Radiographic Features
- Right arch
- Retroesophageal indentation
- Diverticulum of Kommerell: aortic diverticulum at origin of aberrant SA
- Associations
- CHD in 10%
- Tetralogy of Fallot, 70%
- ASD, VSD
- Coarctation
What is this Syndrome?
What needs to be excluded?
Wunderlich syndrome.
Case Discussion
- Predominantly echogenic lesion involving the upper pole of the right kidney associated with more complex appearing perinephric collection.
- CT scan of the abdomen confirms the presence of a fatty lesion in the upper pole of the right kidney consistent with angiomyolipoma complicated by haemorrhage.
- Incidental two tiny hepatic haemangiomas.
- Perirenal haemorrhage without a history of trauma complicating an angiomyolipoma is known as Wunderlich syndrome.
- If perirenal haemorrhage is encountered on ultrasound, a thorough workup should be performed to exclude a bleeding renal cell carcinoma.
- Case courtesy of Dr Hani Makky Al Salam, Radiopaedia.org, rID: 10090
LIDDLE
Liddle’s syndrome
- Rare
- Child hood hyper tension
- Autosomal Dominant
- Excessive reabsorption of Na2+ and loss of K+
- Dysregulation of the epithelial sodium channel (ENaC) due to a genetic mutation at the 16p13-p12 locus.
- These channels are found on the surface of epithelial cells found in the kidneys, lungs, and sweat glands. The ENaC transports sodium into cells
- Aldosterone levels are high in hyperaldosteronism, whereas they are low to normal in Liddle syndrome.[6]
- also called Liddle syndrome[1] is a genetic disorder inherited in an autosomal dominant manner that is characterized by early, and frequently severe, high blood pressure associated with low plasma renin activity, metabolic alkalosis, low blood potassium, and normal to low levels of aldosterone.[1] Liddle syndrome involves abnormal kidney function, with excess reabsorption of sodium and loss of potassium from the renal tubule, and is treated with a combination of low sodium diet and potassium-sparing diuretics (e.g. amiloride). It is extremely rare, with fewer than 30 pedigrees or isolated cases having been reported worldwide as of 2008.[2]
Signs and symptoms[edit]
Children with Liddle syndrome are frequently asymptomatic. The first indication of the syndrome often is the incidental finding of hypertension during a routine physical exam. Because this syndrome is rare, it may only be considered by the treating physician after the child’s hypertensiondoes not respond to medications for lowering blood pressure.[citation needed]
Adults could present with nonspecific symptoms of low blood potassium, which can include weakness, fatigue, palpitations or muscular weakness (shortness of breath, constipation/abdominal distention or exercise intolerance). Additionally, long-standing hypertension could become symptomatic.[3]
Cause[edit]
This syndrome is caused by dysregulation of the epithelial sodium channel (ENaC) due to a genetic mutation at the 16p13-p12 locus. These channels are found on the surface of epithelial cells found in the kidneys, lungs, and sweat glands. The ENaC transports sodium into cells. The mutation changes a domain in the channel so it is no longer degraded correctly by the ubiquitin proteasome system. Specifically, the PY motif in the protein is deleted or altered so the E3 ligase (Nedd4) no longer recognizes the channel. This loss of ability to be degraded leads to high amounts of the channel being chronically present in the collecting duct. This results in a hyperaldosteronism-like state, since aldosterone is typically responsible for creating and inserting these channels. The increased sodium resorption leads to increased resorption of water, and hypertension due to an increase in extracellular volume.[4]
Liddle syndrome is inherited in an autosomal dominant fashion.
Diagnosis[edit]
Evaluation of a child with persistent high blood pressure usually involves analysis of blood electrolytes and an aldosterone level, as well as other tests. In Liddle’s disease, the serum sodium is typically elevated, the serum potassium is reduced,[5] and the serum bicarbonate is elevated. These findings are also found in hyperaldosteronism, another rare cause of hypertension in children. Primary hyperaldosteronism (also known as Conn’s syndrome), is due to an aldosterone-secreting adrenal tumor (adenoma) or adrenal hyperplasia. Aldosterone levels are high in hyperaldosteronism, whereas they are low to normal in Liddle syndrome.[6]
A genetic study of the ENaC sequences can be requested to detect mutations (deletions, insertions, missense mutations) and get a diagnosis.[7]
Case Discussion
- Medullary nephrocalcinosis.
- An infant suspected to have Liddle’s syndrome, screened for nephrocalcinosis.
- Case courtesy of Dr Hani Makky Al Salam, Radiopaedia.org, rID: 9899
- https://en.wikipedia.org/wiki/Liddle%27s_syndrome
LANDZERT
The fossa of Landzert is a congenital mesentery defect. It is present in about 2% of autopsy series and is formed due to non-fusion of the inferior mesentery to the parietal peritoneum. It is found to the left of the fourth part of the duodenum.
The inferior mesenteric vein runs along its (anterior) free edge.
History and etymology
It is named after Theodor Bernhard Landzert (1833-1889), a Russian anatomist.
Related pathology
left paraduodenal hernia
CANAVAN
Canavan disease, also known as spongiform degeneration of white matter (not to be confused with Creutzfeldt-Jakob Disease) or aspartoacylase deficiency, is a leukodystrophy clinically characterised by megalencephaly, severe mental and neurological deficits, and blindness.
Epidemiology
Canavan disease is particularly common in the Ashkenazi Jewish community 1. The carrier frequency among the Ashkenazi ranges from 1:37 to 1:57, with a corresponding prevalence of 1 in 6000-14000 in this high risk group1. In the general population the prevalence is 1 in 100000 11.
Clinical features
There are a wide range of clinical features, but generally there is a progression from lethargy and hypotonia, to macrocephaly (due to underlying megalencephaly) and spasticity, to blindness and seizures, to decerebrate posturing and eventual death 2. In the vast majority of patients, clinical onset is in infancy with death before 5 years of age, and often before 18 months, but juvenile-onset forms of the disease have also been reported 2. Juvenile-onset forms may have speech difficulty, mild intellectual impairment and suffer neurological regression 11.
Pathology
It is an autosomal recessive disorder due to a gene mutation on the short arm of chromosome 17 leading to deficiency of N-acetylaspartoacylase, a key enzyme in myelin synthesis, with resultant accumulation of N-acetylaspartate (NAA) in the brain, cerebrospinal fluid, plasma, and urine 3,4. Although its effects are widespread, it has a predilection for subcortical U-fibres and Alzheimer type II astrocytes in the gray matter 3,5.
Markers
Increased levels of NAA in the urine may be detected 11.
Radiographic features
In Canavan disease the neuroimaging findings are diagnostic of the condition 11.
CT
The oedematous sponginess of the white matter causes a characteristically low radiographic attenuation on CT so that it stands out from the relatively unaffected gray matter 4. Megalencephaly may also be also noted depending on the clinical stage 4.
MRI
MRI confirms the megalencephalic appearance and provides more detail of the white matter disease, which is typically diffuse, bilateral, and involving the subcortical U-fibres 4-8,11:
T1: areas of low signal
mainly within subcortical white matter
generally with sparing of the corpus callosum, caudate nucleus, putamen and internal capsule
as the condition progresses atrophy of the periventricular white matter may be seen with associated ventriculomegaly
globi pallidi and thalami are usually affected as well
T2/FLAIR: findings as above except for areas of high signal in the affected white matter
DWI: restricted diffusion within the diseased white matter
MR spectroscopy: markedly elevated NAA and NAA:creatine ratio are pathognomonic for the condition 11.
this can be remembered using the mnemonic CaNAAvan
There is no enhancement of affected regions on either CT or MRI 5-8.
Treatment and prognosis
The condition is fatal with death resulting at 2-5 years and treatment is generally supportive 4. No effective treatment is yet available 4. However, genetic therapies are being trialed and seem to reduce the level of NAA within the brain 11.
https://radiopaedia.org/articles/canavan-disease?lang=gb
