All Eponymous Conditions Flashcards
Alice in wonderland syndrome
Altered perception in size and shape of body parts or objects +/- and impaired sense of passing time. Seen in epilepsy, migraine and cerebral lesions.
Arnold-Chiari malformation
Malformed cerebellar tonsils and medulla herniate through the foramen magnum. This may cause infantile hydrocephalus with mental retardation, optic atrophy, ocular palsies, and spastic paresis of the limbs. Spina bifida, syringomyelia or focal cerebellar and brainstem signs may occur. There may be bony abnormalities of the base of the skull. Often presents in early adulthood, MRI aids diagnosis.
Baker’s cyst
Fluid from a knee effusion escapes to form a popliteal cyst (often swollen and painful) in a sub-gastrocnemius bursa. Usually secondary to degeneration. Differential diagnosis: DVT (exclude if calf swelling), sarcoma.
Bazin’s disease (erythema induratum)
Localised areas of fat necrosis that produce painful, firm nodules +/- ulceration and and indurated rash, characteristically on adolescent girl’s calves. It is associated with TB.
Behcet’s disease
A systemic inflammatory disorder of unknown aetiology, associated with HLA-B5. It s more common along the old silk road, extending from the Mediterranean to China.
Features: Recurrent oral and genital ulceration, uveitis, skin lesions (erythema nodosum, papulopustular lesions), arthritis (non-erosive large joint oligoarthropathy), thrombophlebitis, vasculitis, myo/pericarditis, CNS involvement (pyramidal signs) and colitis.
Treat with colchicine for oral and genital ulceration, azathioprine or cyclophosphamide for systemic disease. Infliximab has a role in ocular disease unresponsive to topical steroids.
Berger’s disease
(IgA nephropathy) Ranges from microscopic haematuria to rapidly progressing glomerulonephritis. Preceded by URTI in approx 45% of children, typically causing gross haematuria. Biopsy shows mesangial IgA deposition. It is mostly benign, but progression to end-stage renal failure occurs in 20-40%.
Treatment with corticosteroids and ACE inhibitor/ARB if increased BP or proteinuria. Tonsillectomy can improve renal function if tonsillitis causes recurrent disease.
Bickerstaff’s brainstem encephalitis
Ophthalmoplegia, ataxia, areflexia and extensor plantars +/- tetraplegia +/- coma, and a reversible brain death picture.
Barrett’s oesophagus
Results from prolonged exposure of normal oesophageal squamous epithelium to the refluxate of GORD. This causes mucosal inflammation and erosion, leading to replacement of the mucosa with metaplastic columnar epithelium. The length affected may be a few centimetres or all the oesophagus, and can be continuous or patchy (on endoscopy). 3-5% of people with GORD develop Barrett’s. The most significant associated morbidity is oesophageal adenocarcinoma.
Brugada syndrome
Predominantly autosomal dominant condition causes faulty sodium channels that predispose to fatal arrhythmias, eg ventricular fibrillation, typically in young males and triggered by a fever. RBBB and unusual ST morphology (raised) in leads V1-3.
Brown-Sequard syndrome
A lesion in one half of the spinal cord (due to hemisection or unilateral cord lesion) that causes
- ipsilateral UMN weakness below the lesion (severed corticospinal tract, causing spastic paraparesis, brisk reflexes, extensor plantars)
- ipsilateral loss of proprioception and vibration (1 dorsal column severed)
- contralateral loss of pain and termperture sensation (severed spinothalamic tract which has crossed over)
Causes:
- bullet
- stab
- dart
- kick
- tumour
- disc hernia
- cervical spondylosis
- MS
- neuorschistosomiasis
- myelitis
- septic emboli
Budd-Chiari
Hepatic vein obstruction by thrombosis or tumour causes congestive ischaemia and hepatocyte damage. Abdominal pain, hepatomegaly, ascites and increased ALT occur. Portal hypertension occurs in chronic forms
Causes:
- hypercoagulable states (the Pill, pregnancy, malignancy, paroxysmal nocturnal haemoglobinuria, polycythaemia and thrombophilia)
- TB
- liver, renal or adrenal tumour
Angioplasty, TIPSS or surgical shunt may be needed. Anticoagulate (lifelong) unless there are varices. Consider liver transplant in fulminant hepatic necrosis or cirrhosis.
Buerger’s disease
(thromboangiitis obliterans)
Non-atherosclerotic smoking related inflammation and thrombosis of veins and middle sized arteries causing thrombophlebitis and ischaemia.
Cause is unknown.
Stopping smoking is vital. Most patients are men aged 20-45.
Caplan’s syndrome
Multiple lung nodules in coal workers with RA, caused by an inflammatory reaction to anthracite( also associated with silica or asbestos exposure).
Bilateral peripheral nodules (0.5-5cm).
Differential diagnosis: TB
Charcot-Marie-Tooth syndrome
(Peroneal muscular atrophy)
This inherited neuropathy starts in puberty with weak legs and foot drop + variable loss of sensation and reflexes. The peroneal muscles atrophy, leading to an inverted champagne bottle appearance. Atrophy of hand and arm muscles also occurs. The most common form, CMT1A (PMP22 myelin gene mutation on chromosome 17) has AD inheritance. Quality of life is good; total incapacity is rare. Hand pain/paraesthesiae may respond to nerve release.
Churg-Strauss syndrome
A triad of adult onset asthma, eosinophilia and vasculitis (+/- vasospasm +/- MI +/- DVT), affecting lungs nerves, heart and skin. A septic shock picture/systemic inflammatory response syndrome may occur (with glomerulonephritis/renal failure, especially if ANCA positive).
Rx: steroids, biological agents if refractory disease (eg. rituximab)
Creutzfeldt-Jakob disease
The cause is a prion (PrPSc), a misfolded form of a normal protein (PrPc), that can transform other proteins into prion proteins (hence its infectivity). Increased PrPSc leads to spongiform changes (tiny cavities +/- tubulovesicular structures) in the brain. Most cases are sporadic (incidence 1-3 million/year).
Variant CJD
Crigler-Najjar syndrome
Two rare syndromes of inherited unconjugated hyperbilirubinaemia presenting in the first days of life with jaundice +/- CNS signs.
Cause: mutation in the UGT enzyme causing absent (type 1) or imparied (type 2 mild) ability to excrete bilirubin.
Rx:
- T1, liver transplant before irreversible kernicterus develops
- T2, usually no treatment needed
Devic’s syndrome
(Neuromyelitis optica)
Inflammatory demyelination causes attackes of optic neuritis +/- myelitis. Abnormal CSF (may mimic bacterial meningitis) and serum anti-AQP4 antibody (in65%) help distinguish it from MS.
Rx: IV steroid, plasma exchange
- Azathioprine and rituximab help prevent relapses
Dressler’s syndrome
This develops 2-10 weeks after an MI, heart surgery (or even pacemaker insertion). It is thought that myocardial inhury stimulates formation of autoantibodies against heart muscle.
Symptoms:
- recurrent fever and chest pain
- pleural or pericardial rub (form serositis)
Cardiac tamponade may occur, so avoid anticoagulants.
Rx: aspiring, NSAIDs or steroids.
Dubin-Johnson syndrome
There is a defective hepatocyte excretion of conjugated bilirubin. Typically presents in late teens with intermittent jaundice +/- hepatosplenomegaly.
Tests:
- raised bilirubin, ALT and AST are normal
- bilirubinuria or dipstick
- increased ration of urinary coproporphyrin I to III
- liver biopsy –> diagnostic pigment granules
Rx: usually none needed
Dupuytren’s contracture
Progressive shortening and thickening of the palmar fascia causing finger contracture and loss of extension.
Associations:
- smoking
- alcohol use
- heavy manual labour
- trauma
- DM
- phenytoin
- HIV
Thought to be caused by local hypoxia
Rx: collagenase injections
Ekbom’s disease
Restless legs syndrome
Mechanism: endogenous opioid system fault causes altered central processing of pain.
Rx: dopamine agonists, also anticonvulsants, opioids and benzodiazepines.
Fabry disease
X-linked lysosomal storage disorder caused by abnormalities in the GLA gene, which leads to a deficiency in alpha-galactosidase A. There is an accumulation of glycosphingolipids in skin (angiokeratoma +/- hypohidrosis), eyes (lens opacities), heart (angina, MI, syncope, dyspnoea, LVH, arrhythmias), kidneys (renal failure), CNS (stroke), and nerves (neuropathy/acroparaesthesia) +/- corneal verticillata (whorls).
Most males die in their sixth decade due to renal failure, stroke or MI.
Rx: enzyme replacement therapy with alpha or beta human agalsidase
Fanconi anaemia
Defective stem cell repair and chromosomal fragility leads to aplastic anaemia, increased risk of AML and breast cancer (BRCA2), skin pigmentation, absent radii, short stature, microcephaly, syndactyly, deafness, decreased IQ, hypopituitarism and cryptorchidism.
Rx: stem cell transplant
Felty’s syndrome
A triad of RA, decreased WCC and splenomegaly (+/- hypersplenism, causing anaemia and decreased platelets)
Also, recurrent infections, skin ulcers and lymphadenopathy.
95% are rheumatoid factor positive.
Splenectomy may raise the WCC
Rx: DMARDS +/- rituximab if refractory
Fitz-Hugh-Curtis syndrome
Liver capsule inflammation causing RUQ pain due to transabdominal spread of chlamydial or gonococcal infection, often with PID and ‘violin string’ adhesions.
Rx: antibiotics for PID +/- laparoscopic division of adhesions.
Foster Kennedy syndrome
Optic atrophy of one eye due to optic nerve compression (most commonly from an olfactory groove meningioma), with papilloedema of the other eye secondary to raised ICP. There is also central scotoma and anosmia.
Friedrich’s ataxia
Expansions of the trinucleotide repeat GAA in the X25 (frataxin) gene causes degeneration of many nerve tracts: spinocerebellar tracts degenerate causing cerebellar ataxia, dysarthria, nystagmus and dysdiadochokinesis. Loss of corticospinal tracts occurs (weakness and plantars greatly increased) with peripheral nerve damage, so tendon reflexes are paradoxically depressed. There is also dorsal column degeneration, with loss of positional and vibration sense. Pes cavus and scoliosis occur. Cardiomyopathy may cause CCF. Typical age at death is approximately 50. There is no cure. Treat CCF, arrhythmias and DM.
Froin’s syndrome
Increased CSF protein and xanthochromia with normal cell count - a sign of blockage in spinal CSF flow (eg from a spinal tumour).
Gardener’s syndrome
A variant of familial adenomatous polyposis caused by mutations in the APC gene. There are multiple colon polyps (which inevitably become malignant), benign bone metastases, epidermal cysts, dermoid tumours, fibromas and neurofibromas.
Can present from 2-70 years with colonic or extra-colonic symptoms.
Gelineau’s syndrome
Narcolepsy
Gerstmann’s syndrome
A constellation of symptoms suggesting a dominant parietal lesion
- finger agnosia (inability to recognise fingers
- agraphia
- acalculia
- left-right dsorientation
Gilbert’s syndrome
A common cause of unconjugated hyperbilirubinaemia due to decreased UGT-1 activity (the enzyme that conjugates bilirubin with glucuronic acid).
5-15% have a family history of jaundice.
May go unnoticed for years and present in adolescence with intermittent jaundice occurring during illness, exercise or fasting.
Diagnosis:
- mild raised bilirubin
- normal FBC and reticulocytes
It is a benign condition.
Gilles de la Tourette syndrome
Tonic, clonic, dystonic or phonic tics
- jerks
- blinks
- sniffs
- nods
- spitting
- stuttering
- irrepressible explosive obscene verbal ejaculations or gestures
- grunts
- squeaks
- burps
- twirlings
- nipping others
- tantrums
Deep brain stimulation is rarely indicated, but may help.
Goodpasture’s disease
Acute glomerulonephritis + lung symptoms (haemoptysis/diffuse pulmonary haemorrhage) caused by antiglomerular basement membrane antibodies.
Kidney biopsy: crescenteric glomerulonephritis
Rx:
- treat shock
- vigorous immunosuppressive treatment
- plasmapheresis
Guillain-Barre syndrome
Acute inflammatory demyelinating polyneuropathy occurring a few weeks after an infection with a symmetrical ascending muscle weakness.
Triggers:
- campylobacter jejuni
- CMV
- mycoplasma
- zoster
- HIV
- EBV
- vaccinations
In 40% no cause is found.
Progressive phase of up to 4 weeks followed by recovery.
Unlike other neuropathies, proximal muscles are more affected (respiratory muscles - spirometry).
Autonomic dysfunction noted.
Nerve conduction studies may be useful in diagnosis.
Sensory symptoms can occur in concert.
