Eponymous Flashcards
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, 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.
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
Hyporeflexia
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
Treat:
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.
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.
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.
Refsum’s syndrome
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.
Romano-Ward syndrome
AutoD K channel mutation leading to congenital long QT syndrome, VTs, syncope and sudden death.
Rotor syndrome
Defective excretion of conjugated bilirubin leading to post-hepatic jaundice.
Sjogren’s syndrome
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.
Steven-Johnsons syndrome
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%.
Takayasu’s arteritis
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.
Tietze’s syndrome
Idiopathic costochondritis.
Todd’s paresis
Post-ictal weakness
Von Hippel-Lindau syndrome
autoD Germ-line TSG mutation.
Bilateral renal call carcinoma, retinal and cerebellar haemangioblastoma and phaechromocytoma.
Weber’s syndrome
Ipsilateral CN III palsy with contralateral hemiplegia.
Infarction of one half of the midbrain due to paramedic branch of the basilar artery being occluded.
Whipple’s Disease
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.
Noonan syndrome
autoD disorder. Pulmonary stenosis, atrial-septal defect, HOCM, dwarfism, learning problems, pectus excavatum, coagulopathic. Dysmorphic face: webbed neck and flattened nose.
Eisenmenger syndrome
long term intracardiac shunt (VSD, PDA, ASD) leading to cyanosis and pulmonary HTN
Plummer-Vinson syndrome = Paterson-Brown-Kelly syndrome
postcricoid dysphagia + oesophageal webs + IDA.
Wiskott-Aldrich syndrome
X linked recessive: eczema + thrombocytopenia + immunodeficiency
Brugada syndrome
genetic disorder resulting in VF associated with Sudden Death Syndrome
Tetralogy of Fallot
4 congenital heart defects:
1) Pulmonary stenosis
2) Displaced biventricular aortic root
3) VSD
4) RVH
Wernicke’s encephalopathy
Ataxia + opthalmoplegia + confusion
Opthalmoplegia = horizontal nystagmus, bilateral abducens palsy or completel opthalmoplegia.
Due to chronic alcoholism or severe nutritional deficiencies
Korsakoff’s syndrome
Irreversible memory loss + anterograde and retrograde amnesia + confabulations
Wegener’s granulomatosis
URTI + LRTI + GN
Diagnosis: cANCA
Mx: steroids ± cyclcophosphamide
Meniere’s disease
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
Kartagener’s syndrome
Primary ciliary dyskinesia + chronic sinusitis + bronchiectasis.
50% have situs inversus (dextracardia on CXR).
AutoR disorder.
Neonatal respiratory distress.
Grawitz tumour
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.
Ewing’s sarcoma
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.
Tumour markers:
CA 15-3
CA 19-9
PSA
CEA
a-fetoprotein
BRCA-1
B-hCG
B-hCG + a-fetoprotein
CA 125
Tyrosinase
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.
