| Facial cutaneous capillary malformations (port wine stain) on the ophthalmic dermatome. Clinical signs or radiologic evidence of leptomeningeal vascular malformations. 75% of patients with unilateral involvement develop seizures by a one year due to increased metabolic demand in the developing brain in a setting of vascular compromise. |
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| Thiamine/B1 deficiency. Triad of confusion, ataxia and opthalmaplegia. Always considering alcoholics. Requires urgent replacement of thiamine to prevent irreversible Korsakoff’s. Always give thiamine before glucose. |
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| Umbilical metastatic nodule from intra abdominal malignancy |
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| Lesion to multiple CNS nuclei, caused by posterior are inferior cerebellar artery occlusion leading to brainstem infarction. This can cause dysphagia, dysarthria, vertigo, nausea, vomiting, nystagmus, ipsilateral ataxia, ipsilateral Horner’s, loss of pain and temperature sensation on the ipsilateral side of the face and contralateral side of the body. No limb weakness. |
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| Congenital, bilateral, AR sensorineural deafness and long QT interval. |
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| Levels are reduced or it is abnormally produced. This results in loss of its functions which are to bring platelets into contact with exposed subendothelium, to make platelets bind to each other and to bind to FVIII protecting it from destruction in the circulation. |
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| Necrotising ulcerative gingivitis. Often following mouth infection, commoner in young male smokers with poor oral heigene. Treat with amoxycillin and metronidazole and chlorhexedine mouth wash. |
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| Angina from coronary artery vasospasm, can lead to MI and ventricular arrhythmias or sudden death. Severe chest pain occurs without physical exertion. Triggers include hyperventilation, cocaine and tobacco. |
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| Transient neurological deficit after seizure. |
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| Miosis, partial ptosis, anhydrous due to interruption of face's sympathetic supply. |
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| Defective hepatocyte excretion of conjugated billirubin typically presents in late teens with intermittent jaundice and hepatosplenomegaly. |
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| Dominant germline mutation of a tumour suppressor gene. Causes mucocutaneous dark freckles on the lips, oral mucosa, palm and soles as well as multiple GI polyps causing obstruction, intussusception, and bleeds. 15 fold increased risk of developing GI cancer. |
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| Small that’s all vasculitis presenting with non-blanching purple papule, often over buttocks and extensive services. |
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| Fluid from the knee effusion escapes to form a popliteal cyst which is swollen and painful, often due to secondary degeneration |
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| Apical lung cancer invades the sympathetic plexus in the neck causing ipsilateral horner's syndrome, also the brachial plexus which can cause arm pain and weakness; also the recurrent laryngeal nerve which can cause hoarseness. |
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| Idiopathic costochondritis particularly in the 2nd rib. Localised pain and tenderness at costosternal junction, enhanced by movement, coughing or sneezing. |
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| Dominant mutation in the potassium channels subunit causes long QT syndrome and episodic VT, VF, torsades and sudden death. |
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| inherited unconjugated hyperbilirubinaemia presenting in the first days of life with jaundice and CNS signs. Treat with phototherapy and plasmapheresis to control jaundice; liver transplant to stop irreversible Kernicterus. |
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| Bilateral adrenocortical haemorrhage, occurring with very rapidly deteriorating meningococcal sepsis alongside widespread purpura, meningitis, and DIC. Other causes include H influenza, pneumococcal, streptococcal and staphylococcal sepsis. Adrenal failure causes shock. |
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| Restless legs |
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| Infiltrating granulomas containing then dendritic cells. At risk are the liver, lung, spleen and marrow. Pulmonary disease presents with pneumothorax or pulmonary hypertension; on CXR/CT nodules and cysts with honeycoming near upper and middle zones. |
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| Raised CSF protein and xanthochromia with normal cell count - a sign of blockage in spinal CSF flow |
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| IgA nephropathy |
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| Systemic inflammatory disorder associated with HLA-B5. Causes recurrent oral and gentle ulceration, uveitis, skin lesions such as erythema nodosum, arthritis, thrombophlebitis, vasculitis, myo and pericarditis, CNS involvement, colitis |
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| Unconjugated hyperbillirubinaemia - presents in teens with intermittent jaundice occurring during illness, exercise or fasting. |
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| Recessive disorder characterised by absent paroxisomes. Clinical features include craniofacial abnormalities, severe hypertonia and mental retardation, glaucoma, cataracts, hepatomegaly, renal cysts. |
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| Spindle-cell tumour tumour derived from capillary endothelial cells caused by HHV8. Presents with purple papules or plaques on the skin and mucosa. Metastesises to nodes. 4 types: classic, endemic, iatrogenic, AIDS associated. |
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| Defective stem cell repair leading to aplastic anaemia, increased risk of AML and breast cancer, skin pigmentation, absent radii, short stature, microcephaly, syndactyly, deafness, reduced IQ, hypopituitarism, cryptorchidism |
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| GPA. Necrotising granulomatous information and vasculitis of small and medium vessels. Predilection for URT, lungs and kidneys. Often nasal obstruction, ulcers, epistaxis, destruction of the nasal septum causing characteristic saddlenose deformity. Renal disease causes rapidly progressive glomerulonephritis with Cresant formation, proteinuria and haematurea. Pulmonary involvement may cause cough, haemoptysis, pleuritis. There may also be skin purpura, peripheral neuropathy, mononeuritis multiplex, arthritis/arthralgia, ocular involvement. |
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| Hepatic vein obstruction by thrombosis or tumour causing congestive ischaemia. Features include pain, raised ALT and porterl hypertension in chronic cases. |
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| Nonhaemolytic conjugated hyperbilirubinaemia normal hepatic histology. |
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| 2-10 weeks after an MI: recurrent fever, chest pain, pleural or pericardial rub, possible cardiac tamponade. |
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| RA + reduced WCC + splenomegaly |
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| Infarction of one half of the midbrain after occlusion of the paramedian branches of the basilar or posterior cerebral arteries. Causes ipsilateral oculomotor nerve palsy and contralateral hemiplegia. |
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| Prions transform other proteins into prions causing spongiform changes. Mostly sporadic, can be variant which is transmitted from cows or iatrogenicaly, it can also be inherited. Signs include dementia, focal CNS signs, myoclonus, depression, eye signs. |
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| Primary congenital lymphoedema, causes lymphatic malfunction of lower leg swelling from birth |
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| Optic nerve compression causing optic atrophy of one side and papilloedema secondary to raised intracranial pressure on the other side. |
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| GI malabsorption caused by Tropheryma whippelii. Often starts with arthralgia. GI symptoms commonly include colicky abdominal pain, weight loss, steatorrhoea/diarrhoea, leading to malabsorption. Also systemic symptoms such as chronic cough, fever, sweats, lymphadenopathy, and skin hyperpigmentation. Cardiac involvement may lead to endocarditis. CNS features include reversible dementia, opthalmaplegia, facial myoclonus. Jejunal biopsy will show stunted villi with deposition of macrophages. |
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| Paroxysmal myoglobin. Causes necrosis of exercising muscles, resulting in muscle pain and weakness and discoloured urine from pink to brown, and acute kidney injury. |
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| Vivid liars, addicted to institutions, flit from hospital to hospital, feinging illness hoping for a laparotomy on mastectomy, complaining of bleeding out, claiming sexual assault... |
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| Inflammatory demyelination causing attacks of optic neuritis and myelitis. Abnormal CSF (may mimic bacterial meningitis) and serum anti-AQP4 antibody may help distinguish from MS. |
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| Dorsal midbrain syndrome causing upward gazing palsy and a pseudo-Argyll Robertson pupils and bilateral papilloedema |
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| Metaplasia of the normal stratified squamous epithelium of the distant oesophagus to columnar epithelium as a result of GORD. Increases risk of oesophageal adenocarcinoma. |
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| Restrictive cardiomyopathy and eosinophilia. Signs include heart failure, MR and heart block. |
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| Preexcitation syndrome similar to WPW characterised by short PR interval and a normal QRS complex; at risk of SVT. |
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| Phytanic acid accumulates in tissue and serum due to a gene mutation. This leads to anosmia, early onset retinitis pigmentosa and variable combinations of neuropathy, deafness, ataxia ichthyosis and cardiomyopathy. |
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| Giant gastric mucosa folds, increased mucosal thickness, atrophy of glands, hypochlorhydria, protein-losing gastropathy. Often cause by CMV, strep, H. pylori. |
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| Non-atherosclerotic smoking related inflammation and thrombosis of veins and middle sized arteries causing thrombophlebitis and ischaemia |
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| Dominant variant of the familial adenomatous polyposis. Multiple colon polyps (often become malignant), benign bone osteomas, epidernal cysts, dermis tumours, fibromas, neurofibromas. |
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| Persistent vomiting and retching causes haematemesis via an oesophageal mucosal tear. |
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| Distal ileum contains embryonic remanence of gastric and pancreatic tissue. Maybe gastric acid secretion causing pain and bleeding. Return enter |
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| Incurable, progressive, AD disorder. Starts with irritability, depression, and incoordination progressing to chorea, dementia and fits/death. |
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| Inherited neuropathy, starts with weak legs and foot drop and variable loss of sensation and reflexes; inverted champagne bottle legs. |
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| Acute glomerulonephritis and haemoptysis/pulmonary haemorrhage caused by antiglomerular basement membrane antibodies |
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| The association of pectic ulcers with a gastrin secreting adenoma. Multiple ulcers are produced in the duodenum and stomach. Most cases are sporadic, 20% are associated with men1, 60% and malignant. Metastasis are found in local lymph nodes and the liver. Symptoms include abdominal pain and dyspepsia as well as chronic diarrhoea due to inactivation of pancreatic enzymes and damage to the intestinal mucoas. |
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| Hereditary telangiectasia of the skin and mucous membranes. |
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| Acute colonic pseudoobstruction where there is no mechanical cause. It is often associated with recent severe illness or surgery. |
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| Absent femoral pulse, claudication/wasting of the buttock, pale cold leg, erectile dysfunction from aortoiliac occlusive disease. |
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| Dominant germline mutation of a tumour suppressor gene predisposing to bilateral renal cysts and clear cell renal carcinoma as well as retinal and cerebellar haemangioblastoma and pheochromocytoma. |
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| Recurrent laryngeal nerve palsy from a large left atrium |
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| AD with reduced extracellular microfibrils formation. Features: lens dislocation, aortic dissection/dilatation, dural ectasia, skeletal features such as arachnodactyly, long arms, pectus deformity, scoliosis, pes planus. May also see mitral disease, high arch pallet and joint hypermobility. |
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| Hypothalamic damage and cerebral atrophy due to thiamine deficiency. Reduced ability to acquire new memories, confabulation, lack of insight and apathy. |
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| Right bundle branch block and ST elevation of V1 to V3. Usually dominant, causing faulty sodium channels, predisposing to fatal arrhythmias. Preventable with ICD |
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| Paroxysmal nocturnal haemoglobinuria |
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| Usually from and extraspinal source. Features backache, stiffness, fever, night sweats, weight loss, progressive bone destruction leading to vertebral collapse and gibbus. Abscess formation may lead to cord compression, paraplegia and bowel/bladder dysfunction. |
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| Absence of muscle phosphorylase enzyme means they can’t convert glycogen to glucose. Causes fatigue, muscle cramps and hyperthermia, as well as rhabdomyolysis and myoglobinurea following exercise. |
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| Intraepidermal spread of an intraduct cancer which can look like eczema, usually around the nipple. |
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| Chronic inflammatory autoimmune disorder. Lymphocytic infiltration and fibrosis of exocrine glands especially lacrimal and salivary glands. There is reduced tear production, reduced salivation, parotid swelling; you may also see vaginal dryness, dyspareunia, dry cough and dysphagia. Systemic signs include polyarthritis/arthralgia, Raynauds, lymphadenopathy, vasculitis, lung, liver and kidney involvement, peripheral neuropathy, myositis, fatigue. Anti-Ro = SSA, Anti-la = SSP |
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| Peripheral digital ischaemia due to paroxysmal vasospasm as a result of cold and emotions. Pale = ischaemia, blue = deoxygenation, red = reactive hyperaemia. |
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| Port wine stains, varicose veins, and limb hypertrophy due to vascular malformations. |
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| Expansion of the trinucleotide repeat GAA causing degeneration of nerve tracts. |
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| Severe form of erythema multiforme and a variant of TEN caused by hypersensitivity reaction. Ulceration of the skin and mucosal surfaces. |
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| Malformed cerebellar tonsils and medulla herniate through the foramen Magnum causing infantile hydrocephalus with mental retardation, optic atrophy, ocular palsies and spastic paresis of the limbs |
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| Benign persistent swelling of lacrimal and parotid gland due to lymphocytic infiltration; thought to be related to IgG4. |
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| Alter perception in size and shape of body parts and object with/without an impaired sense of passing time |
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| eGPA - a triad of adult onset asthma, eosinophilia and vasculitis, affecting lung, nerves, heart and skin |
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| Lung nodules in coal workers with rheumatoid arthritis |
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| Narcolepsy |
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| A triad of benign ovarian tumour, pleural effusion, ascites |
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| Granulomatous inflammation causes stenosis, thrombosis and aneurysms. Commonest in women aged 20 to 40. Aortic arch is often infected with cerebral, ophthalmic and upper limb symptoms. Systemic features are common such as fever, weight loss and malaise. Blood pressure is often a feature due to renal artery stenosis. Complications include AR, aortic aneurysm, dissection, stroke and IHD. |
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| Progressive shortening and thickening of the palmar fascia causing finger contracture and loss of extension. |
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| Allergic infiltration of the lungs by eosinophils due to allergens. |
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| Penile angulation maybe connected to repetitive trauma. |
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| Dominant parietal lesion: finger agnosia, agraphia, acalculia, right-left disorientation |
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| Corpus callosum demyelination and necrosis often secondary to chronic alcoholism. |
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| X-linked lysosomal storage disorder causing accumulation of glycosphingolipid in the skin (angiokeratoma in the swimming trunk distribution), corneal verticillata, cardiac hypertrophy, MVP, neuropathy, renal failure. |
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| Few weeks after infection: ascending symmetrical muscle weakness starts. Often proximal muscles are more affected; pain is common, sensory signs maybe absent. Autonomic dysfunction may occur, such as sweating, raised HR, blood pressure changes. Nerve conduction studies so slow conduction. |
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| Lesion in half of spinal cord causes ipsilateral UMN weakness and loss proprioception and vibration and contralateral loss of pain and temperature sensation. |
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| Fat necrosis producing painful firm nodules on ulceration characteristically on adolescent girls calves |
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| Liver capsule inflammation causing RUQ pain due to trans abdominal chlamydia or gonococcal infection often with pelvic inflammatory disease. |
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