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Alice in Wonderland syndrome (Todd's syndrome)

Disturbance of one's view of oneseful ± fast-forwarding in intra-psychic time.
Can occur in epilepsy, migraine or infectious mononucleosis


Bazin's Disease

Localised areas of fat necrosis with ulceration and an indurated rash, characteristically on adolescent girls' calves.
Possible association with TB.


Behçet's Disease (Silk Road Disease)

Autoimmune genetic disease causing small-vessel vasculitis involving Th17 cells. Possibly causes damage by vasculitic inflammation causing occlusion of the small vessels and present with a triad of oral aphthous ulcers, genital ulcers, and uveitis. Although a small vessel disorder, as a systemic disease it can affect any organ or artery. Generally neurological complications and aneurysms are fatal.

Commonly found in Turkey, Mediterranean and Japan.

Tests: Skin Pathergy test - needle prick leads to papule formation.

Treatment: Steroids, ciclosporin, azathioprine or cyclophosphamide in severe disease.


Berger's Disease

IgA nephropathy.
The commonest glomerulonephritis causing episodic haematuria, often coinciding with viral infections. Secondary causes include alcoholic liver disease, ank. spond., coeliac disease, HIV.


Buerger's Disease

Thromboangiitis obliterans.
Recurring inflammation and thrombosis of small and medium arteries and veins of the hands and feet.
Associated with young men, SMOKING and claudication.


Budd-Chiari syndrome

Hepatic vein obstruction.

Obstruction by thrombosis or tumour causing ischaemia and hepatocyte damage, presenting with liver failure, or insidious cirrhosis. Abdo pain, hepatomegaly and ascites and raised ALT occur. . Portal HTN occurs in chronic forms.

Causes: hypercoaguable (OCP, pregnancy, malignancy, polycythemia, thrombophilia) or liver, renal or adrenal tumour.

Test: USS + Dopplers, CT/MRI
Treatment: anticoagulation (unless varices). Angioplasty or TIPS [transjugular intrahepatic porto-systemic shunt]. Consider liver transplant in fulminant hepatic necrosis or cirrhosis.


Caplan's syndrome

This is multiple lung nodules in coal workers with RA, caused by an inflammatory reaction to the external allergen.
CXR: bilateral peripheral nodules (0.5-5cm).


Charcot-Marie-Tooth disease

AutoD Inherited neuropathy starts in puberty with weak legs and foot drop, with variable loss of sensation and reflexes.
Peroneal muscular atrophy lead to inverted champagne bottle appearance. Atrophy of hands and arms also occurs.


Churg-Strauss syndrome

Vasculitis + (late-onset) asthma + eosinophilia.

Vasculities affects lungs, peripheral nerves and skin. Glomerulonephritis can occur but renal failure is rare. pANCA +ve. Most respond to steroids.


Crigler-Najjar syndrome

Inherited unconjugated bilirubinaemia.

Abolition of UGT enzyme causes jaundice ± CNS signs in first few days of life.

Liver transplant before irreversible kernicterus (bilirubin induced brain dysfunction) develops. Phototherapy as a temporary measure to lower bilirubin.

Same enzyme as Gilbert's.


Devic's syndrome

Neuromyelitis optica.

Variant of MS. Demyelination of optic nerves, chasm and cord.
Treatment: Azathioprine is often used to suppress attacks.
Prognosis is variable, complete remission can occur.


Dressler's syndrome

2-10 weeks post-MI (or heart surgery). AIAb polyserositis due to release of myocardial Ags from necrotic myocardium. Pericarditis and cardiac tamponade.
Treatment: Aspirin, NSAIDs or steroids.


Dublin-Johnson syndrome

AR disorder causing defective hepatocyte excretion of conjugated bilirubin due to a mutated canalicular transporter.
Intermittent jaundice + RUQ pain.
Liver biopsy gives diagnostic pigment granules. Normal ALP.


Fanconi anaemia

AR disorder with defective stem cell repair, leading to aplastic anaemia, (increased AML risk), pigmentation, skeletal malformation (absent radii, short, microcephaly) and neuro deficits (deafness and low IQ) and cryptorchidism.


Felty syndrome

RA + splenomegaly + neutropenia.

Hypersplenism, recurrent infections, skin ulcers and lymphadenopathy. V high RF.


Friedreich's ataxia

AR disorder leading to degeneration of nerve tracts.
Spinocerebellar tract: cerebellar ataxia, dysarthria, nystagmus, dysdiadochokinesis.
Corticospinal tract: weakness and extensor plantars

Pes cavus and scoliosis.


Gardner's syndrome

AD variant of FAP, caused by mutations in the APC gene.

100s of malignant colon polyps, benign bone osteomas, epidermal cysts, dermoid tumours, fibromas and neurofibromas.
On fundoscopy there are black spots due to hypertrophy of retinal pigment epithelium.

Treatment: Endoscopic polypectomy. Subtotal colectomy.


Gerstmann's syndrome

Finger agnosia + L/R disorientation + agraphia + acalculia + alexia.

Dominant parietal lesion.


Goodpasture's syndrome

Acute glomerulonephritis and lung symptoms (haemoptysis + pulmonary haemorrhage).

Anti-GBM Ab.

CXR: pulmonary infiltrates often in lower zones.
Renal biopsy: crescentic GN

ABC shock. Immunosuppressive treatment and plasmapheresis.


Henoch-Schonlein purpura

Small vessel vasculitis.

Presents with purport (purple nodules) often over buttocks and extensor surfaces. GN, joint involvement, + abdo pain.


Klippel-Trenaunay syndrome

Port-wine stain + varicosities + limb hypertrophy.

Due to vascular syndrome. Usually sporadic.


Leriche's syndrome

Aorto-iliac occlusive disease:
absent femoral pulses + buttock claudication + impotence.


Marfan's syndrome

AutoD CTD. Fibrillin-1 mutation.

Major criteria (diagnostic if >2): lens dislocation, aortic dissection, dural ectasia, arachnodactyly, armspan > height, pectus deformity, scoliosis, pes planus.
Minor: MV prolapse, high arched palate, joint hyper mobility,

B blocker to slow aortic root dilation
Elective surgical repair.


Meckel's diverticulum

Congenital small intestine diverticulum.

Prevalence <2%. Can contain gastric and panceatic tissue. High acid secretion can cause occult GI pain and bleeding.


Nelson's syndrome

Post bilateral adrenalectomy pituitary hyperplasia.

Adrenalectomy (due to hyperadrenalism) leads to reduced cortisol mediated negative feedback. Increased CRH from the hypothalamus stimulates the pituitary leading to hyperplasia. This not only has mass effects but also leads to excess ACTH with skin pigmentation and Cushing's.


Ogilvie's syndrome

Acute functional colonic obstruction caused by malignant retroperitoneal infiltration, spine fracture or electrolyte imbalance.


Osler-Weber-Rendu syndrome

Hereditary haemorrhagic telangectasia. (AutoD)

Telangectasia on the skin and mucous membranes, which may cause epistaxis or chronic GI bleeds, with IDA. It is associated with pulmonary, hepatic and cerebral AVMs.


Paget's disease of the breast

Intra-epidermal spread of intra-ductal cancer.

Unilateral red, scaly lesion around the nipple.

Do a biopsy. Could be eczema.

Treatment: Mastectomy + LN clearance.


Peutz-Jegher's syndrome

Germline mutation of LKB1 causes mucocutaneous dark freckles on lips, oral mucosa, palms and soles ± GI polyps that can obstruct or bleed.

<3% undergo malignant change.

Conservative or local excision.


Peyronie's disease

Penile fibrosis leading to angulation. Erectile dysfunction in 50%.

Assoc. w/ Dupuytren's and atheroma.