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UCL MBBS (Fach) / Clinical conditions (Lektion)

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• Infantile colic Definition: Episodes of crying > 3h/d, > 3d/w for three weeks; age 2w - 3mEpidemiology: Prevalence 5%-25%; <5% organic causeOrganic causes:  constipation, GORD, lactose intolerance, cows' milk allergy, anal fissures, subdural hematomas, infantile migraine Red flag symptoms: (investigate accordngly!) bilious, blood or frequent vomiting bloody / mucusy diarrhoea pyrexia, irritability, lethargy poor weight gain Management: Reassurance, conservativePrognosis: typically resolves by 1y; no long-term sequelae
• Gastro-oesophageal reflux disease in children Definition: posseting / vomiting after feeding, leading to unsatisfactory weight gain; caused by reduced antral toneEpidemiology: Common in first 6 months of lifeSigns: Common: posseting/vomiting, feeding aversion, irritability, failure to thrive Red flags: projectile vomiting; drawing up legs, gagging, epistothonus Investigations: endoscopy, impedance-pH monitoring, barium swallowDDx incl cow's milk protein intolerance, obstruction Treatment:  conservative: feeding technique: upright, small & frequent, winding; different formula medications: ranitidine, omeprazole, domperidone Prognosis: excellent
• Toddler's diarrhoea Normal Tx: diet: less fruit jouce, more fibre
• UTI in children Definition: Infecction of the urinary tract, i.e. > 10^5 cfu / ml; often E.coli Signs & symptoms: unspecific (fever, irritability, lethargy, vomiting, jaundice), frequency, dysuria, smelly / cloudy urine etc Investigations: Urine: clear-catch, suprapubic, cathether for MCS <6 months: well-responding / atypical / recurrent ⇒ acute USS; MCUG (reflux), DMSA (scarring) 6months - 3years: atypical ⇒ acute USS + DMSA;  recurrent ⇒ 6w USS + DMSA >3 years: atypical ⇒ acute USS; recurrent ⇒ 6w USS + DMSA Treatment: Antibiotics (e.g. trimethoprim), hydration; prophylaxis if VUR
• Inguinal hernia in children Definition: prostrusion of bowel into the scroum;  more often indirect than directEpidemiology: More common in boys and premature babies (up to 1:6)Symptoms: noneSigns: Reducible swelling, palpable bowel loop with peristalsis; cough impulsInvestigations: none; USSTreatment: Aim to repair before 6w of age; umbilical hernias: observe until 5yComplications: Incarceration, obstruction, necrosis
• Hydrocele in children Transluminating scrotal swelling; refer for paed urology
• Nephrotic syndrome Definition: triad of peripheral oedema, hypoalbuminaemia, proteinuraCause: minimal change glomerulonephritis, membranous GN, mesangio-capillary GN, FSGSSigns / symptoms: Oedema, clotting (↓anti-thrombin), infection (↓Ig's); high cholesterolInvestigations: dipstick urine, LFT for albumin, BP; NO renal biopsyTreatment: 28d high dose steroidsPrognosis: excellent
• Undescended testes Definition: testes not present in scrotum at birth, "cryptorchidism"Epidemiology: More common in premature boys Management: if under 6m, watch and wait if over 6m, surgical orchidopexy under GA as day case Complications: May impact normal development if not correct, leading to infertility, testicular cancer
• Vulvovaginitis in children Definition: Inflammation of vulva and vaginaAetiology: Thin lining + contact irritant + moisture ⇒ inflammation, tight clothing, obesity; threadwormsSymptoms: Itch, discharge, redness, dysuriaInvestigations: none or swabTreatment: conservative: light clothing, keep dryPrognosis: excellent; gets better with puberty
• Downs syndrome Definition: Trismoy 21; rare causes: mosaicism, unbalanced translocation with 14;Epidemiology: 1:1000 @ 30y → 1:30 @ 45ySigns: hypotonia, dysmorphic features (wide epicanthic folds, upwards slanting palpebral fissures); sandalwood gapInvestigations: prenatal screening (e.g. β-hCG + PrAPP-A + nuchal thickness +/- CVS/AC); karytyping after birth; genetic counseling for parentsTreatment: multidisciplinary: GB, paeds, dietician, OT, physio, cardiology, psych, social Prognosis: life expectancy: 50s complications: cardiac (AVSD>VS>PDA>ASD), GI (biliary atresia, Hirschsprung's), neuro (LD, early dementia)
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• Sickle cell disease Aetiology: autosomal recessive mutation in globulin chain ⇒ HbS instead of HbA Epidemiology: 1:50 carrier, 1:2500 affected, like CF, more common in African / mediterranean Symptoms - Crisis Chest Vasoocclusive bone pain sequestration → shock haemolysis aplastic crisis (parvo B19) priapism cerebral / stroke Investigations: protein electrophoresis, molecular testing Treatment Acute: Analgesia, antibiotics, exchange transfusion Chronic: Splenectomy, ABx prophylaxis (benpen against capsulated s. pneumoniae) Genetic counseling
• Iron deficiency anaemia Definition: Anaemia due to iron deficiemcy, due to reduced intake or increased loss (haemorrhage, e.g. menorrhagia, occult bleeding, hook worms)Symptoms: Fatigue, headache, palpitationsSigns: Pallor, high-output HF; koilonychia, oesophageal webInvestigations: FBC: microcytic hypochromic anaemia Blood film: target cells, pencil cells, hypochromia, spherocytes Iron studies: low iron, high TIBC Treatment: Supplementation, e.g. ferrous sulphate, increase by 1g/dl per week Blood transfusion Prognosis: excellent
• Acute leukaemia in children ALL Good prognostic factors Onset 2-5y Female low blast count Cannot prevent meningitis ⇒ prophylactic IG treatment AML
• Atopic eczema Definition: Dermatitis part of atopic triad (+asthma, hayfever, food allergy), mostly on flexor surfaces, hands, faceEpidemiology: Very common; usually starts in childhoodSymptoms: itchy rashSigns: erythematous, scale rash; +/- lichenification; excoriation marks; crusting from 2ary infection Treatment: Simple measures: emollients, moisturizers, soap substitutes Topical treatment: Steroids, tacrolimus (protopic) Phototherapy: UVA, Psoralene-UVA Systemic: Steroids, immunosuppresion Biologicals: Prognosis: No cure,  may get better in adulthood
• Napkin dermatitis Irritant contact dermatitis spareing skinfolds Treat by aereation
• Dermatophytosis Definition: Tinea (ringworm) skin infection, classified according to location (unguium, pedis, cruris, manuum, corporis, capitis, etc.)Dermatology: Common in children, athletes, immunocompromised etc.Symptoms: Itchy rash, nail discolouration, hair lossSigns: Annular, scaly lesions with erythematous, serpentigenous borderInvestigations: skin / nail scrapings for microscopy Treatment: Hygiene advice Topical antifungals, e.g. mi-/ketoconazole, terbinafine if severe, systemic, e.g. terbinafine, itraconazole, +/- referral Prognosis: Excellent, but may recur; scarring alopecia with kerion (→griseofulvin)
• Impetigo Definition: Bacterial skin infection: s. aureus or s. pyogenesEpidemiology: Most common among preschool kidsSigns & symptoms: itchy, crusty rash (loin, armpits, face etc); feverInvestigations: none; or swab, FBCTreatment: Antibiotics, e.g. fluclox, co-amoxiclav
• Viral warts Definition: Bening skin growth, caused by Human Papilloma Virus Epidemiology: Common; HPV 16+8 (+6,11) causative in cervical cancer (→ gardasil imm) Signs + symptoms: multiple fleshy, warty papules; hands, feet, buttocks Investigations: none required Treatment: Watch and wait, freeze off
• Orbital cellulitis Definition: Inflammation of the soft tissues around the eye; pre- vs post-septal; pathogens s. aureus, s. pyogenes etc.Epidemiology: Commoner in childrenSymptoms: Swelling around the eye, fever, double vision, pain on eye movementSigns: dito; pain on movement ⇒ post-septal ⇒ admitInvestigations: Bloods, MRI head and orbitTreatment: Antbiotics, e.g. flucloxacillin, co-amoxiclavPrognosis: good; complications incl cavernous sinus thrombosis; meningo-encephalitis
• Strabismus "squint"; do cover tests
• Torsion of testis Definition: Twisting of the testis (or an appendage) cutting of blood suply Epidemiology: Common in prepubertal boys Symptoms: Sudden onset severe unilateral pain Signs: high-riding, transverse, tender testis; erythematous scrotum; absent cremateric reflex Treatment: surgical exploration +/- bilateral orchiplexy DDx: Acute epididymo-orchitis (excl. by dipstix, MSU MCS, FBC, absence of fever)
• Congenital adrenal hyperplasia Definition: CAH; Autosomal recessive condition affection synthesis of cortisol production in adrenal glands.Aetiology: Due to 21-hydroxylase (salt-wasting) or 11-β-hydroxylase (salt-sparing) deficiencySigns + symptoms: female mascularization; insidious in boys salt-wasting: vomiting → dehydration → death Diagnosis: Increased  serum 17-OH-progestogen; screening at birth; steroid panelTreatment: Glucocorticoid replacement ↓glucocorticoids → ↑ACTH → hyperplasia; spill over into sex hormones; build-up products +/- mineralocorticoid activity
• Osteoporosis Definition: Reduced bone mass; prevalence 6%/18% in M/F > 50yrs.Risk factors: low BMI, age, family history, alcohol, immobility, untreated menopause; steroids, ↑PTH, rheumatoid arthritisInvestigations: Bloods (Ca2+, PO43-, ALP normal); X-ray, DEXA (T-score < -2.5, not necessary if >75yrs, or ≥2 risk factors)Management Conservative: weight-bearing exercise, quit smoking, Ca2+ and Vit D rich diet Medical: Ca2+ + Vit D, bisphosphonates, strontium ranelate (↓oesophagitis), HRT, raloxifene → Osteopaenia, osteoalacia, Paget's disease of the bone
• Osteomalacia --
• Myotonic dystrophy --
• Rheumatoid arthritis Definition: Symmetrical, deforming inflammatory polyarthropathy of small joints, mostly hands. Seropositive (rheumatoid factor) / -negativeEpidemiology: F:M > 2:1, prevalence 1%, peak onset 5th-6th decade Symptoms: Joints: typical: pain, stiffness, swelling in small joints, worst in the morning; atypical: palindromic RA, monoarthritis, systemic illness, polymyalgic Systemic:  Dry eyes (sicca syndrome), SoB (fibrosis, nodules, aenemia of chronic disease) Signs: Hands: Inflammation → tenosynovitis / bursitis → deformities (ulnar deviation at MCP, Boutoniere's / swan neck, Z thumb) +/- rheumatoid nodules Extra-articular: lymphadenopathy, vasculitis, lungs, eyes, Felty's syndrome Investigation: Bloods tests: ESR, CRP, rheumatoid factor (70% positive), anti-CCP (98% specific) Imaging: X-ray (periarticular erosions, osteopaenia narrow joint space) Management: (referral, DAS28 for disease activity) Conservative: exercise, PT, OT; stop smoking Medical: Symptomatic: steroids, analgesia (NSAIDs) Disease-modifying: MTX, sulfasalazine, HQC, gold;  biologicals (anti-TNF-α: infliximab, etanercept, adalimumab; rituximab; anakinra) Surgical: ulnar stylectomy, joint prosthesis → Seronegative arthritides (enteropathic, psoriatic, ank spond, reactive); osteoarthritis; gout
• Horner's syndrome --
• Epilepsy Types Primary / genetic: juvenile myoclonic Temporal lobe Status epilepticus → emergency management Classification of seizures: simple vs complex, gocal v generalized, tonic-clonic vs absence Treatment Education, advice Sodium-valproate, levetiracetam, lamotrigine, clonazepam, phenytoin DDx Syncope psychogenic seizures Febrile seizure
• AIH Definition: AutoImmune Hepatitis, type I-III, α-SMA positiveManagement: immunosuppresion, liver transplantPrognosis: 10year survival 80% → PSC, PBC; UC / Crohns
• Hiatus hernia --
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• Stomas Defunctioning vs permamant End vs loop: bridge colo- vs ileostomy: flush / protruding Position Indication: Hartman's, anorectal dsease
• Haemochromatosis Iron overload: congenital or blood transfusion Joint, skin, heart, brain involvement Deranged liver function Serum ferritin characteristically chronically raised. Caeruloplasmin reduced X-linked recessive
• Malaria ---
• Charcot-Marie-Tooth Inherited SensoriMotor neuropathy Differentt types, genes, etc.
• Renal tubular acidosis Types i-IV
• Cerebellar infarct Ataxia, imbalance Autonomic symptoms: nausea PICA syndrome, lateral/posterior medullary syndrome → stroke for general information
• Cluster headache Symptoms Painful atttack Red, watery eye Treatment High-flow oxygen, non-rebreathe mask Injectible Sumatriptan
• Goodpasture's disease Anti-GBM antibodies against α3 chain of type IV collagen →Renal-pulmonary syndrome
• IgA nephropathy --- → HSP
• SLE ---
• Vitamin B12 deficiency Cobalamin Causes Intake deficiency - vegan diet, alcohol Malabsorption - pernicious anaemia Symptoms tiredness neurological: peripheral neuropathy, optic atrophy, etc. Investigations FBC: macrocytic anaemia Blood film: poikilocytosis, anisocytosis, oval macrocytes IF antibody: for pernicious anaemia Schilling test for PA Treatment: Supplement B12 before glucose, e.g. pabrinex dietary change
• Wegener's disease ---
• Intracranial haemorrhage Extradural - lentiform Subdural - Subarachnoid Intra-parenchymal / - cerebral   → appearance on imaging, extension in sulci etc
• Increased intracranial pressure (IIP) Symptoms Throbbing headache, worse on lying down, couging, sneezing Papilloedema (also optic neuritis → syphilis, B12 deficiency) Causes Space Occupying Lesion CSF ↑ production, blockage, ↓ reabsorption infection Venous sinus thrombosis idiopathic → acetazolamide, frusemide; CSF drain / fenestration Diagnosis CT Lumbar puncture: opening pressure > 16 → benign / idiopathic intracranial hypertension
• Tricuspid regurgitation Incompetent tricuspid valve, caused by PAH or degeneration Rarely in isolation, usually + MR Right heart failure, prominent V wave in JVP
• Rheumatic fever Cause of valve disease in the elderly Diagnostic criteria Carditis, Arthritis, Subcut nodules, Erythema marginatum, Sydenham's chorea Fever, Raised ESR, Arthralgia, Prolonged PR, Previous episode
• Kidney stones Triple phosphate (struvite) - chronic / recurent UKI, staghorn Calcium phosphate - hypoercalciuria Calcium oxalate Cysteine - cysteinura Urate - rare Radiodensity?
• Long QT syndrome Risk of ventricular tachycardia / Torsades de pointes Causes Inherited: Romano-Ward, Jervell and Lange-Nielsen (+ s/n deafness) Aquired: Hypocalcaemia Tx: Propranolol, Implantable Cardiac Defibrillator → pacemakers
• Autoimmune polyglandular syndrome Types 1-4 Combinations of Addisons, hypoparathyroidism, thyroid, diabetes, etc Type 2 no parathyroid involvement → MEN 1, 2a/b
• Refeeding syndrome Fluid retention, hypokalaemia, -magnesaemia, -phosphataeima

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