Medical Shorts Flashcards

Question

Management of Neurofibromatosis

Answer 1

**MDT**: GP, neurologist, specialist nurse, Surgeons **Excision** of problematic neurofibromas **Monitor complications** Yearly BP and cutaenous review **Treat epilepsy** Genetic counselling

Answer 2

**Autosomal Dominant** **NF1: Chromosome 17** 1 in 2,500 NF2: Chromosome 22 1 in 35,000

Answer 3

**Neurofibromatosis** **McCune Albright** Cafe-au-lait spots Polyostotic fibrous dysplasia Endocrinopathy --\> precocious puberty **Tuberous sclerosis**

Answer 4

Autosomal **Dominant** Chromosome **16** **Skin** **Facial adenoma sebaceum:** perinasal angiofibromata **Periungual fibromas:** hands and feet **Shagreen-patch:** roughended leathery skin over sacrum **Ash-leaf macule:** hypopigmented macule on trunk (fluroresce with UV / Wood's lamp) Cafe-au-lait spots **Extras** Fundus: retinal phakomas (dense white patches) Lungs: cystic lung disease Abdomen: renal enlargement due to cysts or transplanted kidney Signs of phenytoin use (80% epileptic): ginigval hypertrophy, hisutism **Invx** Skull films: railroad track calcification CT/MRI brain: tuberous mass in cortex Abso USS: renal cyst Ech: Cardiomyopathy (rhabdomyomas)

Answer 5

**X-linked dominant pattern** Defect in the gene which codes for type IV collagen resulting in an abnormal glomerular-basement membrane (GBM) Presents in childhood **Mmicroscopic haematuria** **Progressive renal failure** Bilateral **sensorineural** deafness Lenticonus: protrusion of the **lens** surface into the anterior chamber **Retinitis pigmentosa** Renal biopsy: splitting of lamina densa seen on electron microscopy

Answer 6

**Hereditary Haemorrhagic Telangiectasia** = Osler-Weber-Rendu Syndrome **Autosomal dominant** Telangiectasia AVMs: lungs, liver, brain **Inspection** Multiple **telangiectasia** on face, lips and buccal mucosa **Cyanosis**: can have larhe pulmonary AVMs **No** signs of CREST **DDx** HHT Scleroderma Chronic liver disease Ataxia telangiectasia **Compliations** Haemorrhage: epistaxis, GI haemorrhage, Haemoptysis, SAH High-output cardiac failure Increased risk of Colorectal cancer with SMAD4 mutation (A) telangiectasia on the periungal regions of the fingers (B) telangiectasia on the lips (C) telangiectasia on the oral mucosa (D) bleeding foci in the Kisselbach's plexus (E) microtelangia on the tongue (F) clubbing fingers with one small hemangioma

Answer 7

**Peutz-Jeghers** Autosomal **dominant** mutation of **STK11 gene on chromosome 19** Mucocutaneous macules **GI hamartomatous polyps** Small pigmented macules on lips, oral mucosa, palms and soles **DDx** Peutz-Jeghers Carney Complex McCune-Albright Simple freckles **Complications** GI hamartomas: GI bleeding and **intussusception** PAncreatic endocrine tumours Increased risk of colorectal carcinoma

Answer 8

**Erythema Multiforme** Symmetrical **targetoid** lesions esp. Extensor surfaces of peripheries Initial lesions are sharply demarcated, round, red/pink and flat (macules), which become raised (papules/palpable) and gradually enlarge to form plaques (flat raised patches) up to several centimetres in diameter **DDx of lesions with central clearing:** Erythema multiforme, Discoid eczema Tinea **Causes** Infection * HSV (70%) * Mycoplasma Drugs * Sulfonamides * NSAIDs * Allopurinol * Penicillin * Phenytoin Stevens-Johnson syndrome and TEN are distinct severe forms of EM

Answer 9

**Erythema Nodosum** Tender bkue/red smooth shiny nodules Commonly found on shins but can be anywhere with subcutaneous fat Older lesions leave a bruise **Extras** Parotid swelling: **Sarcoidosis** Red, sore throat: **Streptococcal infection** Joint pain, oral ulceration: **Behcet's** **Causes** Systemic * Sarcoidosis * IBD * Behcet's Infection * Steptococcal infection * TB Drugs * Sulphonamides * OCP

Answer 10

**Rheumatoid Arthritis Hands** **Joints:** PIP and MCP joints (especially 2nd and 3rd MCP) Ulnar styloid Triquetrum As a rule, the DIP joints are spared **Late changes include:** Subchondral cyst formation: the destruction of cartilage presses synovial fluid into the bone **Subluxation causing:** Ulnar deviation of the MCP joints Boutonniere and swan neck deformities Hitchhiker’s thumb deformity Carpal instability: scapholunate dissociation, ulnar translocation Ankylosis

Answer 11

**Hyper-extension of PIP** **Flexion of DIP** Due to lateral bands drifting dorsally exacerbate hyperextension at PIP unable to extend at DIP, unopposed profundus causes flexion at DIP rheumatoid arthritis (classical association) post-traumatic: particular post mallet finger injury scleroderma psoriatic arthritis systemic lupus erythematosus arthropathy

Answer 12

**Flexion at PIP** **Extension at DIP** Due to central tendon slip

Answer 13

**Genetic predisposition (HLA-DR B1 )** Environmental trigger (Epstein-Barr virus postulated as a possible antigen, but not proven) Lead to an autoimmune response that is directed against synovial structures and other organs Activation and accumulation of T CD4 cells in the synovium starts a cascade of inflammatory responses Inflammatory response leads to **pannus** formation Pannus is an oedematous thickened hyperplastic synovium infiltrated by lymphocytes T and B, plasmocytes, macrophages and osteoclasts. Pannus will gradually erode bare areas initially, followed by the articular cartilage. It causes a fibrous ankylosis which eventually ossifies

Answer 14

Diagnosis is based on a combination of **clinical, radiographic and serological criteria.** **ACR - EULAR classification** criteria for Rheumatoid Arthritis 4 requires a score of **\>6/10** for a diagnosis of RA to me made: **A- Joint Involvement** 0: Large Joint 1: 2-10 large joints 2: 1-3 small joints (with or without involvement of large joints) 3: 4-10 small joints (with or without involvement of large joints) 5: \>10 joints (at least 1 small joint) **B- Serology** 0: negative RF and negative ACPA 2: low-positive RF or low-positive ACPA 3: high-positive RF or high-positive ACPA **C- Acute Phase Reactants** 0: normal CRP and Normal ESR 1: abnormal CRP and Abnormal ESR **D- Duration of Symptoms** 0: \<6 weeks 1: \>6 weeks

Answer 15

Rheumatoid arthritis is a **chronic autoimmune multisystemic inflammatory disease** which affects many organs but **predominantly attacks the synovial tissues and joints.**

Answer 16

Hands Wrist Elbow Shoulder Hip Knee Feet Skin: steroid use BP and pulse: AF Eyes: episcleritis, keratoconjunctivitis sicca, anaemia Neck: atlanto-axial subluxation Heart: pericardial rub Lungs: pulmonary fibrosis, effusion Abdomen: splenomegaly (Felty's) Urine dip: nephrotic syndrome or DMARDs

Answer 17

**Soft tissue swelling** Periarticular osteopenia Loss of joint space Periarticular erosions Deformity

Answer 18

**MDT:** GP, Physio, Occupational Therapist, Rheumatologist, Orthopod **Conservative** Physiotherapy OT: aids and splints **Medical** WHO analgesic ladder Steroids: IM, PO or intra-articular DMARDs Biologics **Other** CV risk optimisation Preventing PUD and osteoporosis **Surgical** Carpal tunnel decompression Tendon repairs Arthroplasty Ulna stylectomy **NICE** 1) Combination of DMARDs (including methotrexate and at least one other DMARD, plus short-term glucocorticoids) as first-line treatment as soon as possible 2) Offer short-term treatment with glucocorticoids for managing flares in people with recent-onset or established disease to rapidly decrease inflammation 3) Offer analgesics (for example, paracetamol, codeine or compound analgesics) Oral NSAIDs/COX-2 inhibitors should be used at the lowest effective dose for the shortest **Co‑prescribe with a proton pump inhibitor (PPI)** **4) Retuximab** **5) Methotrexate**

Answer 19

Acromegaly Spade-like hands Tight ring

Answer 20

**Hands** **Spade**-**like** (compare to size of own hand) Tight **rings** Increase **skin fold** thickness **Boggy**, sweaty palms Thenar wasting and loss of sensation over index and middle finger = Carpal Tunnel Syndrome Hypertensive **Face** Coarse facial features Large nose Big ears Macroglossia Widely spaced teeth: "smile and show me your gums" Prognathism: inspect jaw from side Look up nose for scars: pituitary surgery **Extras** Eyes: bitemporal hemianopia Neck: goitre and JVP Armpis: acanthosis nigrans Abdomen: organomegaly Myopathy: stand from chair **Completion** Urine dip for glycosuria ECH: LVH and ischaemia **Previous photographs**

Answer 21

Headaches Changes in vision Changes in appearance Ring size Pain or parastheasia in the hands Snoring, feeling tired (Obstructive sleep apnoea) Polyuria Polydypsia Chest pain, SOB

Answer 22

Urine dip: glycosuria **ECG:** LVH, ischaemia **Bloods** IGF-1 Glucose tolerance test: non-suppression of growth hormone Check other pituitary hormones: TFT, PRL, Glucose **Imaging** CXR: cardiomegaly MRI: pituitary fossa Visual fields **Complications** Diabetes Cardiovascular disease Colorectal cancer

Answer 23

**MDT approach**: GP, endocrinologist, neurosurgeon, specialist nurse, ENT surgeon **1st line:** trans-sphenoidal excision Complications: meningitis, diabetes insipidus,m panhypopituitarism **2nd line:** medical Somatostatin analogues: octreotide GH antagonist: pegvisomany Dopamine agonists: Cabergoline **3rd line:** radiotherapy **Follow-up: Yearly** with bloods, visual fields, ECG and MRI head

Answer 24

**Hands** Thin skin Evidence of cause: **Rheumatoid arthritis** **Arms:** Hypertension **Face** Moon face / cushingoid face Acne Hirsutism **Abdomen** Central obesity Purple straie **Extras** Proximal myopathy: stand from sitting Back: inter-scapular fat pad Palpate spine for tenderness (crush #) Kyphosis

Answer 25

**ACTH-independent** Most common: steroid use Adrenal adenoma / carcinoma / hyerplasia Carney complex (pigmentation) **ACTH-dependent** Pituitary tumour = Cushing's disease Ectopic ACTH from small cell lung cancer

Answer 26

**Confirm increase in cortisol** 24h free cortisol Loss of diurnal variation: midnight cortisol **Low-dose dexamethasone suppression test** **High dose dexamethasone test** **MRI pituitary fossa** +/- Whole body CT Bilateral inferior petrosal sinus vein sampling - distinguish between ectopic ATCH and pituitary source (raised with stimulus = pituitary) Can also be used to detect affected side

Answer 27

Steroid comolications Osteoporosis Cardiovascular disease

Answer 28

**Medic alert bracelet** **Hyper-pigmentation:** palmar creases, scars, nuccal mucosa **Postural hypotensio**n **Extras:** Signs of AI disease (Diabetes, Votiligo, hypothyroidism) Signs of TB

Answer 29

**Bloods** U+Es: **Hyponatraemia with Hypokalaemi**a **Hypoglycaemia** Antibody against 21-hydroxylase 8am cortisol: low 8am ACTH: high **SynACTHen test:** no increase in cortisol CXR: TB AXR: adrenal calcification

Answer 30

**Acute** 0.9% normal saline to rehydrate 100mg hydrocortisone IV Treat cause of admission e.g. infection **Chronic** Replace hydrocortisone and fludrocortisone **Patient education and advice** Dont stop steroids suddenly Increase dose during illness Wear medic alert bracelet Carry steroid card Avoid NSAIDs

Answer 31

**MSK** Proximal myopathy Osteoporosis (consider bisphosphonates) **Endocrine** HPE suppression Obesity Diabetes melitus **Metabolic** Sodium and water retention Hypertension Hypokalaemia **Immune** Immunosuppression **CNS** Depression Pyschosis **Eye** Cataracts Glaucoma GI Peptic ulcer (give PPI)

Answer 32

**Involuntary flinging motions of the extremities** Continuous and random Isolated to one side **Cause** Damage to the **subthalmic nucleus** Usually a small infract in diabetic Can be caused by multiple sclerosis **Mx** Self resolving Haloperidol

Answer 33

**Autosomal Dominant** **Action / postural tremor** **Worse with movement** Exacerbating factors: Caffeine, Anxiety Relieving factors: Alcohol, Sleep **Mx** Propanolol Primidone (anti-epileptic)