Syndromes

Question 1

Alice in Wonderland Syndrome

Answer 1

Altered perception in body parts and size. +/- an impaired sense of passing time.

Seen in epilepsy, migraine and cerebral lesions

Question 2

Arnold-Chiari malformation

Answer 2

Malformed cerebellar tonsils and medulla herniate through the foramen magnum

Question 3

Baker’s Cyst

Answer 3

Fluid from a knee effusion escapes to form a popliteal cyst (swollen and painful), usually secondary to degeneration. Do USS and MRI

Question 4

Bazin’s disease

Answer 4

Localised areas of fat necrosis that produce painful , firm, nodules +/- ulceration and an indurated rash, associated with TB

Question 5

Behcet’s Disease

Answer 5

Systemic inflammatory disorder of unknown cause, associated with HLA-B5. Most common in Mediterranean. . Recurrent oral and genital ulceration, uveitis, skin lesions, thrombophlebitis, colitis

Question 6

Berger’s Disease

Answer 6

Ranges from invisible haematuria to rapidly progressive glomerulonephritis. Usually indolent, progression to end stage kidney disease can occur.

Question 7

Budd Chiari

Answer 7

Hepatic vein obstruction by thrombosis or tumour causes congestive ischaemia and hepatocyte damage. Abdo pain, hepatomegaly, ascites, and increased ALT. Portal hypertension occurs in chronic form.

Causes: (hypercoaguable state) OCP< pregnancy, malignancy, polycythaemia, thrombophilia.

Question 8

Caplan’s

Answer 8

Multiple lung nodules in coal workers due to silica or asbestos , due to an inflammatory reaction to anthracite.

Question 9

Churg-Strauss Syndrome

Answer 9

a triad of adult-onset asthma, eosinophilia and vasculitis affecting lungs, nerves, heart and skin. A septic shock picture/systemic inflammatory response syndrome may occur .

Steroids, biological agents eg rituximab

Question 10

Crigler-Najjar Syndrome

Answer 10

Two rare syndromes of inherited unconjugated hyperbilirubinaemia presenting in the first days of life with jaundice +/- CNS signs.

Mutations in UGT enzyme activity causing absent (Type 1) or impaired (type 2) bilirubin production

Question 11

Dressler’s Syndrome

Answer 11

2-10weeks post MI, heart surgery.

Due to myocardial injury stimulates autoantibodies against the heart muscle

SymptomsL recurrant fever and chest pain, pleural or pericardial rub. Cardiac tamponade may occure.
Rx steroids, aspirin, NSAIDs

Question 12

Ekboms Syndrome

Answer 12

“restless legs”

1: compelling desire to constantly move legs
2: Worse at night
3: Relieved by movement
4: unpleasant leg sensation

Endogenous opioid system fault causing altered central processing of pain.

Question 13

Fanconi Anaemia

Answer 13

Autosomal recessive, defective stem cell repair & chromosomal fragility leads to aplastic anaemia, inc. risk of AML and breast cancer (BRCA2), skin pigmentation, short stature, deafness.

Rx Stem cell transplant

Question 14

Felty’s syndrome

Answer 14

A triad of rheumatoid arthritis + low WBC + splenomealy. recurrent infections, skin ulcers, and lymphadenopathy

95% and Rh factor +

Question 15

Fitz-Hugh-Curtis syndrome

Answer 15

liver capsule inflammation causing RUQ pain due to tyransabdominal spread of chlamydia or gonoccal infection, with PID

Question 16

Guillian Barre Syndrome

Answer 16

acute inflammatory demylinating polyneuropathy.

A few weeks post infection a symmetrical ascending muscle weakness starts .

Cause: campylobacter, CMV, zoster, HIV, EBV, vaccinations, which create antibodies that attack nerves

Question 17

Henoch-Schonlein purpura

Answer 17

Small vessel vasculitism presenting with purpura, over buttocks and extensor surfaces.

Question 18

Horner’s Syndrome

Answer 18

Triad of

1) miosis
2) Partial ptosis
3) anhidrosis

Due to interruption to the faces sympathetic supply

Question 19

Huntingtons

Answer 19

Incurable, progressive, autosomal dominant, neurodegenerative disorder presenting in middle age, often with prodromal phase of mild symptoms (iriitibility, depression, incoordination) this progresses to chorea, dementia +/- fits and deaths <15 yrs dx.

Atrophy and neuronal loss of the striatum and cortex

Question 20

Korsako9ff Syndrome

Answer 20

hypothalamic damage and cerebral atrophy due to thiamine deficiency