1.  Characteristic features (req >2 for diagnosis):
2.  Lens dislocation (ectopia lentis)
3.  Aortic dissection or dilation
4.  Dural ectasia
5.  Skeletal features (=arachnodactyly [long spidery fingers], arm span > height, pectus deformity, scoiliosis, pes planus = flat feet), hernia
6.  Minor signs: MVP, high arched palate, joint hypermobility
7.  Clinical diagnosis – caution: Homocystinuria has similar MSK deformities
8.  The danger is aortic dissection. In pregnancy – this risk rises.
9.  Tx: B-blockers can be used to slow dilation of aortic root. Do annual echo’s with elective surgical repair when aorta diameter (>5cm).
   1. o REMINDER of HOMOCYSTINURIA:
   2. o Cystathione beta-synthetase deficiency, autosomal recessive with early vasculopathy
   3. o p/c: Downward lens dislocation, heart rarely effected, mental retardation, recurrent thrombosis, osteoporosis, positive urine cyanide-nitroprusside test, response to pyridoxine.

Meckel’s diverticulum:

1.  Prevalence <2%, located >2 feet from ileoceacal valve and is usually < 2 inches long
2.  Contains gastric and pancreatic tissue – there may be gastric acid secretion = gastric GI pain and bleeding
3.  Ix: radionucleotide scan, laparotomy
4.  Acute inflammation may present like appendicitis

Meig’s syndrome:

1.  Ovarian fibroma or thecoma + ascites +pleural transudate (usually R-side, rarely bloody). Benign.

Menetrier’s syndrome:

1.  Giant gastric mucosal folds up to 4cm high, in the fundus, with atrophy of the glands and increased mucosal thickness and hypochlorhydria and protein-losing gastropathy (hence hypoalbuminaemia and oedema)
2.  Causes: CMV, strep, H.pylori
3.  p/c: weight loss, vomiting, epigastric pain. It is pre-malignant
4.  Tx: H.pylori eradication (high dose PPI+clarithro+amox)
5.  Surgery if intractable symptoms or malignant change

Meyer-Betz syndrome:

1.  Paroxysmal myoglobinuria
2.  Idiopathic condition causes necrosis of exercising muscles = muscle pain, weakness, discoloured urine (pink brown): as inc myoglobin in excreted
3.  Acute renal failure can result from myoglobinuria. DIC is associated.
4.  Ix: high WCC/LFTs/LDH/CK/urine myoglobin
5.  Diagnosis: via muscle biopsy. Avoid exertion

Mikulicz’s syndrome:

1.  Diagnostic criteria:

1.  Symmetric, persistent swelling of lacrimal and parotid (or submandibular) glands with exclusion of diseases mimicking these signs (=sarcoidosis, TB, viral, lymphoproliferative disorders)
2.  It is a variant of Sjogren’s syndrome and is usually self-limiting

Milroy’s syndrome:

1.  Autosomal dominant mutations in vascular endothelial growth factor receptor 3 gene (VEGFR-3) (FTL4), causes lymphatic malfunction with asymmetric leg swelling (usually in young girls).
2.  Tx: good foot hygeien, mx comorbid cellulitis

Munchausen’s syndrome:

1.  Vivid liars, addicted to institutions, flit from hospital to hospital, feigning illness – hoping for a laparotomy or mastectomy or they complain of awful bleeding, odd eye movements, curious fits, sexual assaults, throat closings, false asthma, heart attacks.
2.  Munchausen’s-by-proxy entails injury to dependant one by carer/mother to gain medical attention
3.  Ogilvie’s syndrome:
4.  Acute functional (‘pseudo’) colonic obstruction caused by malignant retroperitoneal infiltration, spine fracture, electrolyte imbalance.
5.  Tx: correct U&Es, contrast enema or colonoscopy allows decompression and excludes mechanical causes. Neostigmine can be effective – suggesting parasympathetic suppression to blame

Ortner’s cardiovocal syndrome:

1.  RLN palsy from large L-atrium (caused by MS or aortic dissection)

Osler-Weber-Rendu syndrome:

1.  Hereditary (autosomal dominant) telangiectasia
2.  Located on skin and mucous membranes = epistaxis and GI bleeding.
3.  Associated with pulmonary, hepatic, and cerebral arterio-venous malformations

Paget’s disease of the breast:

1.  Intra-epidermal spread of intra-ductal cancer
2.  Can look like eczema of nipple
3.  Any red, scaly lesion of nipple must be assessed
4.  Tx: biopsy, mastectomy with wide margins and node clearance

Pancoast’s syndrome:

1.  Apical lung cancer
2.  Invades sympathetic plexus in neck
3.  Can = ipsilateral horners, arm pain, RLN palsy, voice hoarseness/bovine cough (due to vocal cord palsy)

Parinaud’s syndrome:

1.  Dorsal midbrain syndrome
2.  Upward gaze palsy, pseudo-Argyll Robertson pupils*
3.  *Argyll Robertson pupils (“AR pupils”) are bilateral small pupils that constrict when the patient focuses on a near object (they “accommodate”), but do not constrict when exposed to bright light. They are a highly specific sign of neurosyphilis.

1.  Causes = hydrocephalus, pineal tumours, stroke.

Peutz-Jegher’s syndrome:

1.  Germline mutations of gene LKB1 cause mucocutaneous dark freckles on lips, oral mucosa, palm, soles +/- GI polyps (=hamartomas: excessive focal overgrowths of normal cells in an organ composed of the same cell type) causing obstruction or bleeds
2.  Malignant change in ~3% – typically duodenal polyps
3.  Tx: local excision

Peyronie’s disease:

1.  Penile angulation
2.  Microtrauma during coitusinflammationfibroblast proliferationpenile plaquefaulty compression of cavernosal vesslespainful ED and angulation
3.  Prevelance 3-9%, >40yo, associated to Dupuytren’s, atheroma, prostatectomy.
4.  Ix: USS
5.  Tx: mx associated depression (in 48%), topical verapamil gel 15%, intralesional IFN-a2b, vit E, tamoxifen, cochicine, RT, lasers, surgery, penile rehab

Pott’s syndrome:

1.  TB of the spine (spread from an extra-spinal source)
2.  p/c: backache, stiffness in all back movements, fever, night sweats, weight loss, vertebral collapse, gibbus (=sharply angles spinal curvature), abscess formation (may lead to cod compression) = paraplegia, bowel and bladder dysfunction
3.  XR = narrow disc spaces, vertebral osteoporosis early leading to destruction and wedging of vertebrae
4.  Abscess formation in lumbar spine may trac down to psoas muscle and erode through through skin
5.  Tx: RIPE

Prinzmetal (variant) angina:

1.  Angina due to coronary artery spasm
2.  ECG = ST elevation
3.  Associated to Circle of Willis occlusion from intimal thickening (=moyamoya disease)
4.  Tx: CCB (NOT b-blockers!)

Raynaud’s phenomenon:

1.  Comprises both Raynaud’s disease (=primary – idiopathic) and Raynaud’s syndrome (=secondary – caused by some other instigating factor)
2.  Secondary causes can include: SLE, scleroderma, CREST, dermatomyositis/polymyositis, RA, b-blockers, hypothyroid, thoracic outlet obstruction, Buerger’s disease, vibration white finger, thrombocytosis, cold agglutin disease, polycythaemia rubra vera, monoclonal gammopathies.
3.  Peripheral digital ischaemia due to vasospasm, precipitated by cold or emotion
4.  Fingers and toes ache and change colour (palebluered)
5.  Prevalence 3-20%, female
6.  Ix: exclude underlying cause
7.  Tx: keep warm, stop smoking, nifedipine 5-20mg/8h po may help. Also losartan, prazosin, fluoxetine may help. Sympathectomy may help in severe disease

Refsum’s syndrome: