Gen Paed Flashcards
Facial capillary malformation / port wine stain
Associations: - Glaucoma - If eyelid involved - Sturge-Weber syndrome • V1/V2 CM plus ipsilateral leptomeningeal capillary malformation. 10% of facial CM • Epilepsy, hemiparesis, stroke-like events, intellectual disability, growth hormone abnormalities • MRI with gadolinium at age 1 year (may not detect changes before 1 year_ • Low dose aspirin may be recommended • Treatment of PWS - Pulsed dye laser
Infantile Haemangiomas
Not present at birth • 80% of growth by 3 months of age • 80% of infantile haemangiomas stop growing by 5 months. Regression largely occurred by 5 years Associations PHACES LUMBAR Rx Propranolol SE hypotension, hypoglycaemia, GI, RESP High risk • Segmental >5cm face (PHACES, airway) • Segmental >5cm lumbar/perineal (LUMBAR) • Bulky lesion on face • Early white discoloration (marker ulceration) • Central face • Periorbital, perioral, perinasal (functional impair • Multiple haemangiomas (hepatic lesions, Heart F, TFT)
PHACES syndrome
• Posterior fossa brain abnormalities • Segmental Haemangioma of the head/neck • Arterial abnormalities • Coarctation of aorta • Eye abnormalities • Sternum abnormalities • Present in 31% of infants with a segmental IH of the head/neck >22cm • Investigations: • MRA head and neck • Echocardiogram • Ophthalmology • If abnormal cerebrovasculature: • Risk of stroke • Start beta blocker more slowly and under observation
Haemangiomatosis
• >5 infantile haemangiomas • May be disseminated eg intrahepatic, intracranial • Risk of cardiac failure, hyperthyroidism • Investigations • USS liver • TFT • Beta blockers effective for intrahepatic IH
Kasabach-Merritt phenomenon
Combination of: • Rapidly expanding vascular tumour • Consumptive coagulopathy • Thrombocytopaenia • Microangiopathic haemolytic anaemia • High mortality without treatment Reported with: • Kaposiform haemangioendotheliomas • Tufted angiomas • Not with infantile haemangiomas Investigations • FBC, Clotting, fibrin degradation products • MRI / MRA, angiography • Biopsy - consider • Management • Avoid blood products unless active bleeding • Sirolimus • Vincristine & Corticosteroids • Embolisation, surgery, alpha interferon, radiotherapy
NF1 criteria
- Six or more café-au-lait spots or hyperpigmented macules >5mm in diameter in pre-pubertal children and 15mm post-pubertal 2. Axillary or inguinal freckles (>2 freckles) 3. Two or more typical neurofibromas or one plexiform neurofibroma 3. Optic nerve glioma 4. Two or more iris hamartomas (Lisch nodules), often identified only through slit-lamp examination by an ophthalmologist 5. Sphenoid dysplasia or typical long-bone abnormalities such as pseudarthrosis 6. First-degree relative (e.g. mother, father, sister, brother) with NF1
Metabolic smells
Burnt sugar, curry, or maple syrup - Maple syrup urine disease Sweaty socks or cheese-like - Isovaleric acidaemia Fruity, ammoniacal - Methylmalonic acidaemia or propionic acidaemia Mouse urine, musty - Phenylketonuria CABBAGE LIKE - Tyrosinemia Malt or hops - Methionine malabsorption Cat urine. - 3-methylcrotonic acidaemia, 3-hydroxy-3-methylglutaric aciduria Fish-like - Trimethylaminuria and carnitine excess
Hair stuff Alopecia
Hair stuff • Hypertrichosis = excessive hair growth • Hirsutism = androgen-dependent male pattern of hair growth • Hypotrichosis = deficient hair growth • Alopecia = hair loss Alopecia • Scarring vs non-scarring. Scarring is rare in children, and is most often due to prolonged/untreated inflammatory conditions (e.g pydoerma, tinea). • 4 categories o Congenital diffuse o Congenital localised o Acquired diffuse o Acquired localised (most common) – usually due to: traumatic alopecia, alopecia areata, or tinea capitis. Alopecia areata • Rapid scalp hair loss in circles, band (ophiasis pattern as pictured), total (totalis) or whole of body (universalis). Usually children/young adults. Also has nail pit changes. NORMAL SCALP macroscopically, with microscopic infiltration of inflammatory cells. • Strong autoimmune association – Hashimoto thyroiditis, Addison d, pernicious anaemia, ulcerative colitis, myasthenia gravis, collagen vascular disease, vitiligo, DM1. Also Down synd. Often have autoantibodies present. • Cause unknown – presumed autoimmune. • Usually resolve in 6-12 months. Prognosis worse if young, extensive hair loss, recurrent. Traumatic alopecia • Traction alopecia o Trauma to hair follicles from tight braids, ponytails, bands, curlers, rollers etc. o Broken hairs, inflammatory follicular papules in circular patches, may have regional lymphadenopathy. • Hair pulling o Usually an acute childhood reaction to stress. • Trichotillomania o Compulsive pulling, twisting and breaking hair. o Hair loss is patchy and incomplete, with broken hair of various lengths. Scalp is normal, or has haemorrhage, crusting, chronic folliculitis. o DSM-IV classification: visible hair loss due to pulling, mounting tension preceding, gratification following, no other cause. o May be associated with trochophagy (resulting in trichobezoars), or OCD (in which case treatment with fluoxetine may help along with behavioural intervention). Acquired diffuse hair loss • Telogen effluvium o Sudden loss of large amounts of hair diffusely, when comb hair. o Due to premature conversion of growing hairs (anagen) to resting hairs (telogen). o Preceded 1.5-3 months by a precipitating cause: childbirth, fevers, surgery, acute blood loss, severe weight loss, cease steroids, psych stress. o Resolves withing 6 months. • Toxic alopecia o Acute, severe, diffuse, inhibition of anagen hair growth. o Due to chemotherapy, radiation, etc. Congenital diffuse • Structural defects • Trichorrhexis nodosa o Autosomal dominant, dry, brittle, lustreless hair. May be associated with Menkes kinky hair syndrome. Can also be acquired. • Pili torti o Spangled, brittle, coarse hair of different lengths. o Due to structural defect in hair shaft. May be associated with Menkes kinky hair syndrome. • Menkes kinky hair syndrome (trichopoliodystrophy) o X-linked recessive (males only). Due to gene mutation encoding copper transporting gene => maldistribution of copper in body and deficiency. o Neonatal hypothermia, hypotonia, poor feeding, seizures, failure to thrive. Pigmented skin, thin cheeks, depressed nasal bridge. Progressive psychomotor retardation in early infancy. o Hair normal at birth, then replaced by short, fine, brittle, light-coloured hair with features of pili torit or trichorrhexis. • Monilethrix o Autosomal dominant hair shaft defect. May affect eyebrows, lashes, body, pubic, scalp – initially normal at birth. • Trichothiodystrophy o May be isolated or in association with syndromes of intellectual impairment, short stature, ichthyosis, nail dystrophy, dental caires, cataracts, decreased fertility, neuro, bone, immunodeficiency. o Characteristically receding chin, protruding ears, raspy voice, sociable personality. • Bamboo hair (trichorrhexis invaginata) o Short, sparse, fragile, not grow. Nethertons • Pili annulati o Light/dark hair band alternation. ?variation of normal blond hair. • Wooly hair disease o Tight, curly hair in non-Black person. • Uncombable hair syndrome (spun glass hair) o Disorderly, silvery blond, triangular hair shafts and follicles.
Gianotti Crosti Syndrome (papular acrodermatitis of childhood)
Common young children (6mo-12yrs, peak 1-6) Symmetric rash - red or skin coloured appears over 3-4 days, typically a profuse eruption of dull red spots develops first on the thighs and buttocks, then on the outer aspects of the arms, and finally on the face. The rash is often asymmetrical and not usually itchy The individual spots are 5–10 mm in diameter and are a deep red colour. Later they often look purple, especially on the legs, due to leakage of blood from the capillaries. They may develop fluid-filled blisters (vesicles). Occurs in reaction to viral illness (Hep B, EBV, CMV, entero), lasts 3-6 weeks
Webers and Rinne
WEBERS - tuning fork (512Hz) centre of forehead. Normal - sound in middle If Louder in one ear - SNHL on quieter side - CHL on louder side Rinne to distinguish between 2 Place tuning fork in 2 places - on mastoid process (bone conduction) and adjacent to ear (air conduction) Normal = air > bone = Rinne +ve Abnormal = bone>air = Rinne -ve (CHL on that side)
Mechanism NAC in paracetamol OD
Paracetamol OD - large amounts of hepatotoxic metabolite NAPQI produced. NAPQI normally inactivated by glutathione, in paracetamol OD, glutathione reserves depleted. NAC is precursor of glutathione so therefore replenishes reserves inactivating hepatotoxic NAPQI
Cytochrome 450 inducers/inhibitors
Cytochrome P450 enzymes are essential for the metabolism of many medications. Although this class has more than 50 enzymes, six of them metabolize 90 percent of drugs, with the two most significant enzymes being CYP3A4 and CYP2D6. Genetic variability (polymorphism) in these enzymes may influence a patient’s response to commonly prescribed drug classes. CYP2D6 metabolizes many beta blockers, antidepressants, and opioids (7% white people are poor metabolisers of this). Cytochrome P450 inducers Reduce the concentration of drugs metabolised by the cytocrome P450 system. Mnemonic: CRAPS out drugs Carbamazepine Rifampicin bArbituates Phenytoin St Johns wort Cytochrome P450 inhibitors Increase the concentration of drugs metabolised by the cytocrome P450 system. Mnemonic: Some Certain Silly Compounds Annoyingly Inhibit Enzymes, Grrrrrrr Sodium valporate Ciprofloxacin Sulphonamide Cimetidine/omeprazole Antifungals, (AZOLES) amiodarone Isoniazid Erythromycin/clarithromycin Grapefruit juice Examples of drugs which interact with enzyme inhibitors/inducers Warfarin COCP Theophylline Corticosteroids Tricyclics Pethidine Statins Calcineurin inhibitors (Ciclosporin / tacrolimus)
Newborn screening
The current conditions screened for by the Newborn metabolic screening test are: • Amino acid disorders (for example PKU and MSUD)* • Fatty acid oxidation disorders (for example MCAD)* • Congenital hypothyroidism (CH) (1 in 4000 infants) TSH level • Cystic fibrosis (CF) immunoreactive trypsin • Congenital adrenal hyperplasia (CAH) 17-OHP • Galactosaemia • Biotinidase deficiency • Severe combined immune deficiency (SCID). T cell receptor excision circles (TRECs)
JIA
Occurs before 16 yrs age
Chronic synovitis +/- extra-articular features
Features of involved joints: early morning stiffness, swelling, warm, restricted movement, contracture and bony deformities
Subtypes:
- Oligoarticular: ≤ 4 usually large lower limb joints in first 6/12 of disease
- Polyarticular: > 4 joints involved by 6/12
- Systemic onset - clinical diagnosis of exclusion (ddx infection, malignancy, vasculitis)
- Enthesitis related arthropathy
- Reactive arthritis
Systemic onset JIA: Arthritis and fever Plus 1 of:
- Evanescent rash
- Lymphadenopathy
- Hepatosplenomegaly
- Serositis
- Polyarthritis
POTS diagnosis and management
Diagnostic Criteria in adolescents: • Increase in heart rate>40bpm within 10minutes of moving from supine to upright position • Heart rate >130bpm • Symptoms Management Increase blood volume • Increase fluid and salt intake Exercise • Minimise deconditioning • Start low (recumbent) and slow • Increasing levels of ‘normal’ exercise (upright, enjoyed previously) Compression stockings Medication • Fludrocortisone - Increase salt retention and blood volume • Beta blockers - Slow heart rate, reduce vasodilatation • Alpha agonist (Midodrine)- Vasoconstriction Support • Minimise social isolation • Psychology input • School plan
Visual field defects
Types of study design
p450 inducers / inhibitors
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CRAP GPS
