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Year 3 > Eponymous > Flashcards

Eponymous Flashcards

1
Q

Alice in Wonderland syndrome (Todd’s syndrome)

A

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

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2
Q

Bazin’s Disease

A

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

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3
Q

Behçet’s Disease (Silk Road Disease)

A

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, anduveitis. 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.

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4
Q

Berger’s Disease

A

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

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5
Q

Buerger’s Disease

A

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.

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6
Q

Budd-Chiari syndrome

A

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.

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7
Q

Caplan’s syndrome

A

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).

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8
Q

Charcot-Marie-Tooth disease

A

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.

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9
Q

Churg-Strauss syndrome

A

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.

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10
Q

Crigler-Najjar syndrome

A

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.

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11
Q

Devic’s syndrome

A

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.

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12
Q

Dressler’s syndrome

A

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.

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13
Q

Dublin-Johnson syndrome

A

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.

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14
Q

Fanconi anaemia

A

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.

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15
Q

Felty syndrome

A

RA + splenomegaly + neutropenia.

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

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16
Q

Friedreich’s ataxia

A

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

Pes cavus and scoliosis.

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17
Q

Gardner’s syndrome

A

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.

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18
Q

Gerstmann’s syndrome

A

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

Dominant parietal lesion.

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19
Q

Goodpasture’s syndrome

A

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

Anti-GBM Ab.

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

Treat:
ABC shock. Immunosuppressive treatment and plasmapheresis.

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20
Q

Henoch-Schonlein purpura

A

Small vessel vasculitis.

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

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21
Q

Klippel-Trenaunay syndrome

A

Port-wine stain + varicosities + limb hypertrophy.

Due to vascular syndrome. Usually sporadic.

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22
Q

Leriche’s syndrome

A

Aorto-iliac occlusive disease:

absent femoral pulses + buttock claudication + impotence.

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23
Q

Marfan’s syndrome

A

AutoD CTD. Fibrillin-1 mutation.

Diagnosis:
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,

Treat:
B blocker to slow aortic root dilation
Elective surgical repair.

24
Q

Meckel’s diverticulum

A

Congenital small intestine diverticulum.

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

25
Q

Nelson’s syndrome

A

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.

26
Q

Ogilvie’s syndrome

A

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

27
Q

Osler-Weber-Rendu syndrome

A

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.

28
Q

Paget’s disease of the breast

A

Intra-epidermal spread of intra-ductal cancer.

Unilateral red, scaly lesion around the nipple.

Do a biopsy. Could be eczema.

Treatment: Mastectomy + LN clearance.

29
Q

Peutz-Jegher’s syndrome

A

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.

30
Q

Peyronie’s disease

A

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

Assoc. w/ Dupuytren’s and atheroma.

31
Q

Refsum’s syndrome

A

AutoR metabolic disorder leads to accumulation of phytanic acid.

Sensorimotor polyneuropathy, nerve deafness, night blindness, cerebellar ataxia, ichthyosis, anosmia, cardiomyopathy.

Test: High plasma phytanic acid level. High CSF protein.

Treat: Diet restriction + plasmapheresis.

32
Q

Romano-Ward syndrome

A

AutoD K channel mutation leading to congenital long QT syndrome, VTs, syncope and sudden death.

33
Q

Rotor syndrome

A

Defective excretion of conjugated bilirubin leading to post-hepatic jaundice.

34
Q

Sjogren’s syndrome

A

Chronic inflammatory AI disorder leading to lymphocytic infiltration of exocrine glands.

Sicca symptoms, polyarthritis, Raynaud’s, vasculitis, peripheral neuropathy, myositis, fatigue

Tests:
Schirmer’s Test for conjunctival dryness. Anti-Rho + anti-La autoAb. Gland biopsy.

Treat: sicca symptoms. NSAIDs + hydroxychloroquine (arthralgia). Immunosuppressants.

35
Q

Steven-Johnsons syndrome

A

Severe form of erythema multiform and variant of toxic epidermal necrolysis.

Ulceration of skin and mucosa. Target lesions mainly on palms and soles. Systemic malaise.

Treat underlying cause. Mortality 5%.

36
Q

Takayasu’s arteritis

A

Aortic arch syndrome/pulseless disease

Systemic vasculitis targeting the aorta and its major branches, causing stenosis and thrombosis. Acute inflammation leads to dilation and aneurysms.
20-40 year old Japanese women.
Diagnosis: high ESR + CRP. angiography.
Treat: Prednisolone. Methotrexate and cyclophosphamide in resistant cases. Anti-hypertensives. Angioplasty or bypass.

37
Q

Tietze’s syndrome

A

Idiopathic costochondritis.

38
Q

Todd’s paresis

A

Post-ictal weakness

39
Q

Von Hippel-Lindau syndrome

A

autoD Germ-line TSG mutation.

Bilateral renal call carcinoma, retinal and cerebellar haemangioblastoma and phaechromocytoma.

40
Q

Weber’s syndrome

A

Ipsilateral CN III palsy with contralateral hemiplegia.

Infarction of one half of the midbrain due to paramedic branch of the basilar artery being occluded.

41
Q

Whipple’s Disease

A

Tropheryma whippelii causing GI malabsorption.

Insidious onset with arthralgia, diarrhoea, weight loss and colicky abdo pain. Fevers, sweats, lymphadenopathy. Can have endocarditis. Can have CNS features.

PAS stain positive granules with deposition of macrophages in tissue.

Treat with antibiotics that cross BBB. IV Ceftriaxone + PO co-trimoxazole.

42
Q

Noonan syndrome

A

autoD disorder. Pulmonary stenosis, atrial-septal defect, HOCM, dwarfism, learning problems, pectus excavatum, coagulopathic. Dysmorphic face: webbed neck and flattened nose.

43
Q

Eisenmenger syndrome

A

long term intracardiac shunt (VSD, PDA, ASD) leading to cyanosis and pulmonary HTN

44
Q

Plummer-Vinson syndrome = Paterson-Brown-Kelly syndrome

A

postcricoid dysphagia + oesophageal webs + IDA.

45
Q

Wiskott-Aldrich syndrome

A

X linked recessive: eczema + thrombocytopenia + immunodeficiency

46
Q

Brugada syndrome

A

genetic disorder resulting in VF associated with Sudden Death Syndrome

47
Q

Tetralogy of Fallot

A

4 congenital heart defects:

1) Pulmonary stenosis
2) Displaced biventricular aortic root
3) VSD
4) RVH

48
Q

Wernicke’s encephalopathy

A

Ataxia + opthalmoplegia + confusion

Opthalmoplegia = horizontal nystagmus, bilateral abducens palsy or completel opthalmoplegia.

Due to chronic alcoholism or severe nutritional deficiencies

49
Q

Korsakoff’s syndrome

A

Irreversible memory loss + anterograde and retrograde amnesia + confabulations

50
Q

Wegener’s granulomatosis

A

URTI + LRTI + GN

Diagnosis: cANCA

Mx: steroids ± cyclcophosphamide

51
Q

Meniere’s disease

A

Spontaneous episodic vertigo (mins/hours) + unilateral SN hearing loss + unilateral tinnitus

Inner ear disorder due to increased endolymph

Exacerbations may last for months/year with episodes as frequent as every few days.
Remission and recurrence spontaneously and with treatment

52
Q

Kartagener’s syndrome

A

Primary ciliary dyskinesia + chronic sinusitis + bronchiectasis.

50% have situs inversus (dextracardia on CXR).

AutoR disorder.

Neonatal respiratory distress.

53
Q

Grawitz tumour

A

This is a renal cell carcinoma. (Clear cell carcinoma).
Accounts for 90-95% of renal cancers in adults.
Presents with haematuria, flank pain, abdominal mass, weight loss, fever, HTN, night sweats and malaise.

Paraneoplastic syndromes include anaemia/polycythemia (reduced/increased EPO), hypercalcemia, thromboycytosis and 2ry amyloidosis.

54
Q

Ewing’s sarcoma

A

Malignant small, round, blue cell tumour of bone or soft tissue.
Presents with extreme bone pain, fevers, anaemia, leukocytosis, raised ESR, 30% are metastatic at presentation.
‘Onion skin’ type periosteal reaction on X ray. Also ‘moth eaten’ radiolucencies of medulla.

55
Q

Tumour markers:

CA 15-3

CA 19-9

PSA

CEA

a-fetoprotein

BRCA-1

B-hCG

B-hCG + a-fetoprotein

CA 125

Tyrosinase

A

CA 15-3 = metastatic breast cancer (However, being replaced by CA 27-29

CA 19-9 = Pancreatic Ca

PSA = Prostate Ca (replace Prostatic acid phosphatase)

CEA = Colorectal Ca (suggestive)

a-fetoprotein = HCC

BRCA-1 = hereditary breast-ovarian cancer

B-hCG = Seminoma

B-hCG + a-fetoprotein = Teratoma

CA 125 = Ovarian Ca

Tyrosinase = associated with early metastatic melanoma.

Year 3 (2 decks)

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