- McArdle’s glycogen storage disease (type V)
- Mallory-Weiss tear
- Marchiafava-Bignami syndrome
- Marchiafava-Micheli syndrome
- Marfan’s syndrome
- Meckel’s diverticulum
- Meig’s syndrome
- Menetrier’s syndrome
- Meyer-Betz syndrome
- Mikulicz’s syndrome
- Milroy’s syndrome
- Munchausen’s syndrome
- Ortner’s cardiovocal syndrome
- Osler-Weber-Rendu syndrome
- Paget’s disease of the breast
- Pancoast’s syndrome
- Parinaud’s syndrome
- Peutz-Jegher’s syndrome
- Peyronie’s disease
- Pott’s syndrome
- Prinzmetal (variant) angina
- Raynaud’s phenomenon
- Refsum’s syndrome
- Romano-Ward syndrome
- Rotor syndrome
McArdle’s glycogen storage disease (type V):
- Autosomal recessive pure myopathy caused by absence of glycolytic enzymes (R50X mutation in PYGM gene)
- p/c: fatigue, crisis of cramps and hyperthermia, rhabdomyolysis/myoglobinuria follow exercise
- Ix: raised CK, muscle biopsy is diagnostic
- Tx: moderate aerobic exercise, avoid heavy exertion, avoid statins, sucrose ~37g pre-workout may help. Creatinine ~60mg/kg/d may help
- Oesophageal tear due to excessive vomiting – leads to haematemesis
- Alcohol induced corpus callosum necrosis (+/- extra-pontine, myelinolysis), leading to L-hand deficient of constructional ability, agraphia, mutism, ataxia, porr bimanual coordination, gaze apraxia/pseudohallucinated look, dysarthria, epilepsy, paucity of vocal and facial expressions, reduced consciousness
- Ix: MRI
- Tx: as for Wernicke’s
- Paroxysmal nocturnal haemoglobinuria (PNH)
- Acquired clonal expansion of multipotent stem cell carrying somatic mutation in x-linked PIG-A gene.
- GPI-anchored proteins are lacking blood cells derived from these mutated stem cells, predisposing to haemolysis, thrombosis, sepsis, marrow failre
- Autosomal dominant fibrillin gene (FBN-1) leads to reduced extracellular microfibril formation with poor elastic fibres. 75% have FH.
- Characteristic features (req >2 for diagnosis):
- Lens dislocation (ectopia lentis)
- Aortic dissection or dilation
- Dural ectasia
- Skeletal features (=arachnodactyly [long spidery fingers], arm span > height, pectus deformity, scoiliosis, pes planus = flat feet), hernia
- Minor signs: MVP, high arched palate, joint hypermobility
- Clinical diagnosis – caution: Homocystinuria has similar MSK deformities
- The danger is aortic dissection. In pregnancy – this risk rises.
- Tx: B-blockers can be used to slow dilation of aortic root. Do annual echo’s with elective surgical repair when aorta diameter (>5cm).
- o REMINDER of HOMOCYSTINURIA:
- o Cystathione beta-synthetase deficiency, autosomal recessive with early vasculopathy
- o p/c: Downward lens dislocation, heart rarely effected, mental retardation, recurrent thrombosis, osteoporosis, positive urine cyanide-nitroprusside test, response to pyridoxine.
- Prevalence <2%, located >2 feet from ileoceacal valve and is usually < 2 inches long
- Contains gastric and pancreatic tissue – there may be gastric acid secretion = gastric GI pain and bleeding
- Ix: radionucleotide scan, laparotomy
- Acute inflammation may present like appendicitis
- Ovarian fibroma or thecoma + ascites +pleural transudate (usually R-side, rarely bloody). Benign.
- 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)
- Causes: CMV, strep, H.pylori
- p/c: weight loss, vomiting, epigastric pain. It is pre-malignant
- Tx: H.pylori eradication (high dose PPI+clarithro+amox)
- Surgery if intractable symptoms or malignant change
- Paroxysmal myoglobinuria
- Idiopathic condition causes necrosis of exercising muscles = muscle pain, weakness, discoloured urine (pink brown): as inc myoglobin in excreted
- Acute renal failure can result from myoglobinuria. DIC is associated.
- Ix: high WCC/LFTs/LDH/CK/urine myoglobin
- Diagnosis: via muscle biopsy. Avoid exertion
- Diagnostic criteria:
- Symmetric, persistent swelling of lacrimal and parotid (or submandibular) glands with exclusion of diseases mimicking these signs (=sarcoidosis, TB, viral, lymphoproliferative disorders)
- It is a variant of Sjogren’s syndrome and is usually self-limiting
- 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).
- Tx: good foot hygeien, mx comorbid cellulitis
- 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.
- Munchausen’s-by-proxy entails injury to dependant one by carer/mother to gain medical attention
- Ogilvie’s syndrome:
- Acute functional (‘pseudo’) colonic obstruction caused by malignant retroperitoneal infiltration, spine fracture, electrolyte imbalance.
- 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:
- RLN palsy from large L-atrium (caused by MS or aortic dissection)
- Hereditary (autosomal dominant) telangiectasia
- Located on skin and mucous membranes = epistaxis and GI bleeding.
- Associated with pulmonary, hepatic, and cerebral arterio-venous malformations
Paget’s disease of the breast:
- Intra-epidermal spread of intra-ductal cancer
- Can look like eczema of nipple
- Any red, scaly lesion of nipple must be assessed
- Tx: biopsy, mastectomy with wide margins and node clearance
- Apical lung cancer
- Invades sympathetic plexus in neck
- Can = ipsilateral horners, arm pain, RLN palsy, voice hoarseness/bovine cough (due to vocal cord palsy)
- Dorsal midbrain syndrome
- Upward gaze palsy, pseudo-Argyll Robertson pupils*
- *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.
- Causes = hydrocephalus, pineal tumours, stroke.
- 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
- Malignant change in ~3% – typically duodenal polyps
- Tx: local excision
- Penile angulation
- Microtrauma during coitusinflammationfibroblast proliferationpenile plaquefaulty compression of cavernosal vesslespainful ED and angulation
- Prevelance 3-9%, >40yo, associated to Dupuytren’s, atheroma, prostatectomy.
- Ix: USS
- Tx: mx associated depression (in 48%), topical verapamil gel 15%, intralesional IFN-a2b, vit E, tamoxifen, cochicine, RT, lasers, surgery, penile rehab
- TB of the spine (spread from an extra-spinal source)
- 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
- XR = narrow disc spaces, vertebral osteoporosis early leading to destruction and wedging of vertebrae
- Abscess formation in lumbar spine may trac down to psoas muscle and erode through through skin
- Tx: RIPE
Prinzmetal (variant) angina:
- Angina due to coronary artery spasm
- ECG = ST elevation
- Associated to Circle of Willis occlusion from intimal thickening (=moyamoya disease)
- Tx: CCB (NOT b-blockers!)
- Comprises both Raynaud’s disease (=primary – idiopathic) and Raynaud’s syndrome (=secondary – caused by some other instigating factor)
- 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.
- Peripheral digital ischaemia due to vasospasm, precipitated by cold or emotion
- Fingers and toes ache and change colour (palebluered)
- Prevalence 3-20%, female
- Ix: exclude underlying cause
- Tx: keep warm, stop smoking, nifedipine 5-20mg/8h po may help. Also losartan, prazosin, fluoxetine may help. Sympathectomy may help in severe disease
- Autosomal recessive. Phytanic acid accumulates in tissues due to mutation of gene coding for the peroxisomal enzyme phytanoyl-CoA hydroxylase
- p/c: polyneuropathy, nerve damage, deafness, night blindness (=retinitis pigmentosa), cerebellar ataxia, ichthyosis (=dry thickened scaly skin), anosmia (=inability to smell), CMP
- Ix: plasma phytanic acid levels raised, high CSF protein
- Tx: restrict foods containing phytanic acid (animal fates, dairy, green leafies), plasmapheresis in severe symptoms
- Autosomal dominant. Mutation in K channel subunit causing long QT syndrome and episodic VT, VF, torsades de pointes, and sudden death
- Jervell-Lange-Nielsen syndromes are similar but cause deafness too.
- Causes: MI, ischaemia, MVP, HIV, hypo- kalaemia/calcaemia/magnesium, hypothyroid, hypothermia, organophosphates, quinidine, amiodarone, sotolol, erythromycin, levofloxacin, domperidone, haloperidol… etc…
- Autosomal recessive. Reduced excretion of bilirubin with fluctuating conjugated hyperbilirubinaemia with almost normal liver histology.
- Ix: cholescintigraphy (also known as: Hepatobiliary Iminodiacetic Acid HIDA, Paraisopropyl Iminodiacetic Acid PIPIDA, or Diisopropyl Iminodiacetic Acid DISIDA scan) is a nuclear imaging procedure to evaluate the health and function of the gallbladder = ‘absent’ liver