Paediatrics & Child Health - part 2 ppt

A/R: Fanconi anaemia may be associated with growth retardation, abnormalities offorearm bones, heart and renal tract defects horseshoe or pelvic kidney, andskin pigmentation.. P: Blood f

A/R: Puberty, may " premenstrually, POS, excess cortisol (Cushing syndrome).

E: Developed world: affects 79–95% of the adolescent population, peaking at14–18 years; tends to recede by early twenties

Developing world: acne incidence is considerably lower; likely combination

of environmental and genetic factors

H: Usually self-diagnosed, acute onset, greasy skin, may be painful

E: Open comedones: whiteheads; flesh-coloured papules

Closed comedones: blackheads; black colour is due to oxidation of the anin pigment

mel-Other features: pustules, nodules, cysts, scarring, and seborrhoea

Distribution: primarily affects the face, neck, chest, and back (where ceous glands are most numerous)

seba-P: Gross distension of the pilosebaceous follicle with neutrophil infiltration.Closed comedones may contain serous fluid Severe acne can create fistulaebetween inflamed glands

I: Normally none required Investigate for endocrine disorder if acne developsduring 2–10 years of age

Bloods: FSH, LH (if female, suspect POS)

Urine: 24-h-urinary cortisol (if Cushing syndrome is suspected)

M: Many cases may not need treatment Indication for treatment based on fication and degree of psychosocial impact In severe acne, therapy should becommenced early to prevent scarring

classi-Topical preparations:

(1) Benzoyl peroxide; keratolytic agent, encourages skin peeling, and # number

of P acnes (S/E: irritation and bleaching of clothes)

(2) Vitamin A derivatives; tretinoin, may take 3–4 months to work

(3) Azelaic acid

Antibiotics:

(1) Topical: clindamycin, erythromycin

(2) Systemic: tetracycline only in > 16 years (S/E: discolours teeth and maysoften bones in children.)

A gradual " in P acne resistance to many antibiotics has been documented;growing need to use either appropriate antibiotics or change the therapeuticstrategy in favour of other regimens

Isotretinoin (Roaccutane P.O.): vitamin A derivative, 4–6-month course only

by specialist prescription for severe acne (S/E: teratogenic; females require OCP,hyperlipidaemia)

Antiandrogens: in females only; OCP or cyproterone acetate

UVB: adjunctive therapy, but rarely used

Advice: improvement may not be seen for at least a couple of months, use

non-5

Acne vulgaris continued

C: Physical: facial scarring (atrophic/keloid), hyperpigmentation of scars, 28 fection and fistulae

in-Psychosocial: lack of self-confidence

P: Generally improves spontaneously over months/years Persists into adulthood

in 22% of women and 3% of men

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Acquired female genital disordersD: Abnormalities of the female genital tract not present at birth.

A: Labial adhesions: adherence of the labia minora in the midline; may give theappearance of absence of the vagina A thin pale semi-translucent membranecovers the vaginal os Trauma causes denudation of the epithelial layer of thelabia minora mucosa and leads to fibrous tissue formation; therefore sealing

of the labia minora Trauma can involve inflammatory conditions (vulvitis,vulvovaginitis), sexual abuse, or straddle injuries

Vulvovaginitis: pruritus, vulval pain, vulval erythema, vaginal discharge orbleeding Usually associated with poor perineal hygeine, constipation, and atopicdermatitis caused by local irritants (bubble bath, soaps, shampoo) or by occlusiveclothing causing irritation May be caused by trauma 28 to abuse; therefore thisshould be considered if other concerns are present

A/R: Vulvovaginitis is often misdiagnosed as a UTI due to its similar presentation

E: Labial adhesions: peak age: 3 months to 6 years, incidence: 1–2%

Vulvovaginitis: very common in < 5-year-olds

H: Labial adhesions: usually asymptomatic and noted on routine examination.Some patients may leak urine when they stand after voiding

Vulvovaginitis: history should include toilet-training, type of nappy used,bad odour or dark discharge, scratching, history of eczema, allergic rhinitis, ordiarrhoea, tendency of child to insert objects, and any possible indication ofabuse

E: General: should be by a skilled clinician, in a well-lit room with a relaxed anddistracted child (mother reading book)

Labial adhesions: the edges of the labia minora are sealed along the line, beginning at the posterior fourchette and extending anteriorly towardsthe clitoris

mid-Vulvovaginitis: commonly, only vulvitis will be detected, although vaginaldischarge and bleeding may also be present

P: See A

I: Exclude other vaginal disorders such as imperforate hymen or septate vaginaprior to treatment

Microbiology: vaginal swab if discharge present, MSU

Radiology: indirect cystourethrogram may show urinary retention behindthe fused labia, bladder distention þ=
hydronephrosis in labial adhesions

M: Labial adhesions: oestrogen cream dissolves the adhesions in 90% of cases.Once adhesions have been lysed vasoline is used as prophylaxis for 1–2months

Vulvovaginitis:

Treat any underlying infection with appropriate antibiotics

Education of adequate perineal hygiene and removal of potential irritants

C: Labial adhesions: without adequate treatment 20–40% will develop UTI

P: Labial adhesions: recurrence is common, therefore good follow-up isrequired

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(1) Viral infection (parvovirus, EBV, CMV, HIV, hepatitis, measles).

(2) Drugs (chloramphenicol, alkylating agents, methotrexate)

(3) Chemicals (DDT, benzene)

(4) Radiation

(5) PNH

Inherited:

(1) Fanconi anaemia (AR, error of DNA repair)

(2) Congenital dyskeratosis (sex-linked disorder with skin and nail atrophy).(3) Schwachman Diamond syndrome: AR disorder with pancreatic insufficiency,skeletal abnormalities and recurrent infections Pancytopaenia in 25%

A/R: Fanconi anaemia may be associated with growth retardation, abnormalities offorearm bones, heart and renal tract defects (horseshoe or pelvic kidney), andskin pigmentation

E: Incidence: 2–5/1 000 000/year Can occur at any age M > F

H: May present with slow (months) or rapid (days) onset:

(1) #RBC: tiredness, lethargy, and dyspnoea

(2) #Platelets: easy bruising, bleeding gums, epistaxis

(3) #WCC: "frequency and severity of infections

E: Pallor, petechiae, bruises, bacterial or fungal infections

No hepatomegaly, splenomegaly, or lymphadenopathy

P: Macro: pale or white bone marrow

Micro: hypocellular bone marrow composed of empty marrow spaces, fatcells, fibrous stroma, and isolated foci of lymphocytes and plasma cells Classicchicken wire appearance

I: Bloods: #Hb, #platelets, #neutrophils, normal MCV, low/absent reticulocytes.Blood film: to exclude leukaemia

Bone marrow trephine biopsy: for diagnosis and exclusion of other causes(bone marrow infiltration: lymphoma, leukaemia, malignancies)

Chromosomal abnormalities: "random breaks in peripheral lymphocytes inFanconi anaemia

Ham’s test: for PNH; measures sensitivity of affected RBCs to lysis by ment following activation

comple-M: Treat the underlying cause: review medication taken by patient, treatunderlying infection

Supportive: blood and platelet transfusions as needed, antibiotics for tions, consider antibiotic prophylaxis

infec-Medical: corticosteroids, cyclosporin A, for Fanconi anaemia; androgen metholone) (S/E: virilisation, liver toxicity)

(oxy-BMT: definitive treatment; from an HLA-matching sibling in younger patients(< 20 years) Cure rate up to 90%

C: Complication of disease process: bleeding, sepsis and "risk of developingmyelodysplastic syndromes or leukaemia if the duration of illness is pro-longed

Complication of BMT: graft rejection, GVHD, infection (new or reactivated)

P: Poor prognostic features include:

spec-(2) Red cell enzyme defects:

G6PD: X-linked disorder which makes RBCs more susceptible to tive injury

oxida- Pyruvate kinase deficiency: AR condition which creates a shift to theright on the oxygen dissociation curve, so patients can tolerate verylow Hb

(3) Haemoglobinopathies: sickle-cell anaemia (see chapters), thalassaemia

Acquired:

(1) Immune haemolytic anaemia:

Autoimmune: warm or cold antibodies attach to RBCs This leads toactivation of complement and subsequent haemolysis of RBCs

Warm antibodies: idiopathic/associated with SLE, lymphoma, or drugs(e.g methyldopa.)

Cold antibodies: idiopathic/associated with infections (Mycoplasma,EBV) or lymphoma

Isoimmune: transfusion reaction, haemolytic disease of the newborn.(2) Non-immune haemolytic anaemia:

Trauma: RBC fragmentation in abnormal microcirculation; TTP, HUS,DIC, malignant hypertension, pre-eclampsia, artificial heart valves

PNH: acute onset haemoglobinuria, which is idiopathic or 28 to plement-mediated lysis

com- Infection: malaria

E: Hereditary causes: prevalent in African, Mediterranean, and Middle-Easternpopulations

HS: most common inherited haemolytic anaemia in N Europe

Age at presentation: depends on aetiology

H&E: Pallor, jaundice, hepatosplenomegaly, specific signs of underlying pathogenesis

P: Blood film (signs of haemolytic anaemia): leucoerythroblastic picture,microspherocytosis, macrocytosis, nucleated RBCs/reticulocytes, polychromasia.Blood film (signs of underlying cause): spherocytes, elliptocytes, sickle cells,fragmented RBCs (DIC), malarial parasites, Heinz bodies (G6PD deficiency)

Age at presentation: depends on aetiology

I: Bloods: #Hb, "MCV due to reticulocytes, "unconjugated bilirubin, "LDH,

#haptoglobin, reticulocyte count, blood film

Urine: "urobilirubinogen 28 to excess unconjugated bilirubin, nuria

haemoglobi-Direct Coombs’ test: identifies RBCs coated with antibodies using antihumanglobulin

Warm antibodies: IgG, agglutinate RBCs at 378C

Cold antibodies: IgM, agglutinate RBCs at room temperature

Hb electrophoresis: Hb variants (sickle cell, thalassaemia)

Enzyme assays: G6PD deficiency, pyruvate kinase deficiency

Osmotic fragility test: detects membrane abnormalities (spherocytosis)

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Anaemia, haemolytic continued

Bone marrow biopsy (rarely required): erythroid hyperplasia; may be plastic in PNH

hypo-M: HS: folate replacement, splenectomy is reserved for severe cases

HE: most cases asymptomatic

G6PD: avoid precipitating factors, drugs (aspirin, sulphonamides, trimoxazole, nitrofurantoin, chloramphenicol, chloroquine), and fava beans.Pyruvate kinase deficiency: splenectomy may be beneficial

co-Autoimmune: prednisolone, azathioprine/cyclophosphamide, splenectomy.PNH: blood transfusions (leucocyte-depleted), anticoagulants for thromboticepisodes; BMT is successful in a small number of cases

C: Renal failure may develop in all cases due to accumulation of RBC breakdownproducts in the renal tubules

PNH: can transform into aplastic anaemia or leukaemia

HS: gallstones, aplastic anaemia in parvovirus infection, megaloblastic andhaemolytic crises (#folate due to hyperactive bone marrow), leg ulcers, andcorneal opacities

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Anaemia, iron deficiency

D: #Hb below the reference range for the age and sex of the individual ated with low MCV (< 80 fl) and depleted iron stores

associ-A: Nutritional:

(1) Exclusive breastfeeding at >>6 months: at > 6 months breast milk alone

is not sufficient to support the extra iron needs related to growth

(2) Doorstep cow’s milk introduction in the 1st year: cow’s milk has lowerbioavailability of iron than breast milk Formula milk is fortified with 6 mgiron/L

(3) Excessive reliance of milk in the 2nd year of life

(4) Behavioural: food refusal, grazing, dieting, eating disorders

(4) Drug-induced: use of aspirin in chronic rheumatic disease

##Absorption: Crohn’s disease, coeliac disease

""Demand: preterm infants (#foetally acquired iron stores), catchup in small fordates infants, after malnutrition, and in adolescence

A/R: See A

E: Iron deficiency anaemia is the commonest anaemia worldwide

Peak ages: 6 months to 3 years, adolescent girls Uncommon in infants

<6 months as they have foetally acquired iron reserves (unless preterm)

H: General: failure to thrive, #exercise tolerance, developmental delay

Behavioural: anorexia, pica (ingestion of odd materials), irritability, impairedconcentration, #progress at school

E: Pallor of skin and mucous membranes, systolic flow murmurs, brittle nails andhair (#epithelial cell iron), spoon-shaped nails (koilonychia), glossitis (atrophy

of tongue papillae), angular stomatitis

P: Film: microcytic, hypochromic (central pallor), anisocytosis (variable sizes),poikilocytosis (variable shapes)

I: Bloods: Hb < 10 g/dl after 6 months in a term infant, #MCV, reticulocytosis,

#serum iron, "iron-binding capacity, #serum ferritin

Hb electrophoresis: to exclude b-thalassaemia trait.

Bone marrow (only in complicated cases): erythroid hyperplasia and totalabsence of iron

M: Preterm: fortify breast milk with iron Use iron-fortified milk formula

Infants: "highly absorbable haem iron sources (meat, fish) and sources ofnon-haem iron (such as grains) in vegetarian families Enhance non-haem ironabsorption by eating vitamin C–rich foods at the same meal

Oral ferrous sulphate: maximum rise of Hb 0.25–0.4 g/dl/day

Blood transfusion: only if child is very anaemic due to risk of cardiac failure

C: Impaired mental and psychomotor development High-output cardiac failure

in severe cases

P: Outcome is good if due to "demand or nutrition and prompt action is taken

If there is a GI cause of blood loss or malabsorption, outcome is dependent on

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Anaemia of prematurity

D: Normocytic, normochromic, hyporegenerative anaemia in a preterm infant sociated with a low serum EPO level Normal Hb levels at birth are 15–25 g/dl; if

as-Hb falls to < 10 g/dl, the infant is considered to be anaemic

A: (1) Inadequate RBC production due to low EPO production: initially thefoetal liver produces EPO, during gestation production gradually shifts tothe kidneys The degree of anaemia and hypoxia required to stimulateEPO production is far higher for the foetal liver than for the foetal kidney

As a result, new RBC production in the preterm infant, whose liver remainsthe major site for EPO production, is blunted despite what may be markedanaemia

(2) Shortened foetal RBC lifespan: foetal RBC has 50–66% of the lifespan

of an adult RBC This is due to #intracellular ATP, carnitine, and enzymeactivity, and "susceptibility to lipid peroxidation and fragmentation Atbirth foetal Hb represents 60–90% of Hb Levels decline to adult levels ofless than 5% by 3–6 months of age

(3) Blood loss: during delivery, repeated blood sampling

(4) Low iron stores

Rarer pathological causes of anaemia in preterm infants:

(1) Haemolysis: 28 to ABO/Rh blood group incompatibility or pathies

haemoglobino-(2) Bone marrow suppression: 28 to infection or renal failure

(3) Bone marrow failure: aplastic anaemia or malignancy

A/R: Low birth weight, family history

E: Frequency is related to the gestational age and birth weight Up to 80% oflow-birth weight (< 2.5 kg) and 95% of extremely low-birth weight (< 1.25 kg)infants require transfusions

H&E: Symptoms and signs of anaemia in a preterm infant:

(1) #Activity, which is improved by transfusion

(2) Poor weight gain despite adequate calorie intake

(3) Tachypnoea, tachycardia, pallor, and flow murmurs

(4) If severe, will result in respiratory depression; and episodes of apnoea

P: See A

I: Bloods: Hb < 10 g/dl, normochromic, normocytic; normal Plt and WCC.Blood film: #reticulocyte count (28 #EPO), abnormal RBC forms (sickle cells,target cells in thalassaemia), RBC fragmentation (haemolysis)

Blood typing: ABO/Rh blood group incompatibility of neonate and mother

M: Indications for packed RBC transfusion:

(1) Hb < 8 g/dl

(2) Failure to thrive

(3) Cardiovascular/respiratory compromise

(4) Coexisting pathologies that may be exacerbated by anaemia

Iron supplementation: may reduce need for transfusion

Recombinant EPO: an alternative when transfusions are not possible due toreligious/cultural beliefs There is conflicting evidence as to whether EPO # theneed for transfusions

C: Transfusion-acquired infection, transfusion-associated fluid overload, lyte imbalances, or haemolysis

electro-P: Preterm infants are usually started on iron therapy for 2–3 months Anaemiausually resolves spontaneously by 3–6 months, as adult Hb is produced and12

Appendicitis, acuteD: Acute inflammation of the appendix.

A: Obstruction of the lumen by impacted faeces ! mucosal inflammation.Inflammation then extends into the submucosa to involve the muscular andserosal layers Fibrinopurulent exudates from the serosal surface extend to theperitoneal surface causing localised peritonitis The lumen subsequently be-comes distended with pus and thrombosis of end-arteries may ! gangreneand perforation

A/R: Poor dietary fibre intake

E: Commonest cause of an acute abdomen in children

Prevalence: 4/1000 children

Can occur at any age, most common > 5 years of age and rare in < 2 years

H: There is large variation in clinical picture:

Colicky pain starts periumbilically then moves to the RIF and becomes moreconstant once the peritoneum becomes inflamed Pain is aggravated bymovement

Anorexia (beware of child with vague abdominal pain who will not eatfavourite food)

Vomiting in young children

Constipation or diarrhoea (less common)

Low-grade fever

E: General: tachycardia, fever, reluctance to move

Abdominal: if child is anxious, use their hand to press on belly:

Rebound/percussion tenderness signifies inflammation of the peritoneum Guarding in RIF (McBurney’s point)

Rovsing’s sign (pain more in RIF than in LIF when the LIF is pressed)

Rectal: should be performed by the most senior doctor where indicated

There is marked tenderness against anterior rectal wall, especially with a caecal appendix

retro-P: See A

I: Do not delay surgery for investigations

Bloods: "WCC (normal WCC does not exclude appendicitis), "CRP, U&E cially if vomiting)

(espe-Urine: microscopy and culture to exclude UTI

AXR: may show dilated loops of bowel and a fluid level in the RIF

USS: may show appendix mass/abscess

M: Conservative: monitor overnight if signs and investigations are equivocal butsymptoms are suggestive of appendicitis Re-examine often

Surgical: open or laparoscopic appendicectomy with pre-op IV cefuroximeand metronidazole to reduce wound infection

Appendix mass: inflamed appendix surrounded by omentum:

Conservative: IV cefuroxime and metronidazole, keep NBM If the massresolves, do an interval (delayed) appendicectomy

Surgery: if appendix mass enlarges/patient becomes more toxic ("pain,

DD in <<2 years: aspiration, pneumonia, bronchiolitis, tracheomalacia, CF.

E: Prevalence: 5–10% Age: 80% of children are symptomatic by the age of

5 M : F ¼ 2 : 1; equalises in adulthood Distribution: viral-associated wheeze/recurrent wheezy bronchitis is " in urban areas and in children of low-socio-economic status families

Assess severity: frequency of attacks (mild: < 1 attack in 2 months; moderate:

>1 attack in 2 months; severe: persistent symptoms, #exercise tolerance), effect

on school attendance, hospital attendances, and admissions to PICU

E: Respiratory: end expiratory wheeze, recession, use of accessory muscles,tachypnoea, hyper-resonant percussion note, diminished air entry, hyperex-pansion, Harrison’s sulcus (anterolateral depression of thorax at insertion ofdiaphragm)

Peak flow: useful in > 5 years of age; use as baseline (predicted best) and asdeterminant for efficacy of treatment

BTS Guidelines for assessment of acute asthma attack:

Severe asthma: Life-threatening asthma:(1) Too breathless to speak or feed (1) Silent chest

(2) Tachycardia: (2) Cyanosis

>120 bpm in 2–5 years (3) Poor respiratory effort >130 bpm in < 2 years (4) Hypotension

(3) Tachypnoea: (5) Exhaustion

>30 breaths/min in 2–5 years (6) Confusion

>50 breaths/min in < 2 years (7) Coma

(4) Peak flow: (8) Peak flow:

<50% predicted in > 5 years  < 33% predicted in > 5 years

P: Acute phase (within minutes): "airway receptor hyper-responsiveness !narrowing of airways

Late phase (onset after 2–4 hs, effect may last up to 3–6 months): tent bronchoconstriction 28 to vicious cycle of inflammation, oedema and14

Asthma continued

I: Few investigations are required In severe cases CXR to exclude thorax

pneumo-M: BTS Guidelines for the management of acute asthma attack:

(1) High-flow oxygen via reservoir bag

(2) Salbutamol and ipratropium bromide via volumatic spacer or nebulised.Salbutamol can be given IV in severe attack

(3) Oral prednisolone 20 mg (2–5 years), 30–40 mg (> 5 years) or IV sone if unable to retain oral medication

hydrocorti-(4) If not responding (< 92% O2saturations) or any life-threatening featurespresent, discuss with PICU for ventilatory support

(1) Avoid obvious precipitants, e.g passive smoking

(2) Ensure good inhaler technique þ=
volumatic spacer

(3) Check compliance

(4) Review treatment every 3–6 months

(5) ‘Rescue’ prednisolone in acute deterioration

Children <<5 years:

Step 1: mild intermittent asthma; short-acting b2-agonist inhalers (e.g butamol) as necessary If used > 1/day ! Step 2 Oral salbutamol is useful inchildren who have difficulties using inhalers þ=
volumatic spacers

sal-Step 2: regular preventor control; add low-dose inhaled steroid (e.g casone) or leucotriene inhibitor if steroid cannot be used

fluti-Step 3: add-on therapy; trial of leucotriene inhibitors

Step 4: persistent poor control: refer to respiratory paediatrician

nedo-Step 3: add-on therapy; add LABA e.g salmeterol

(1) Good response: continue LABA

(2) Benefit from LABA but control still inadequate: "dose of inhaled steroids.(3) No response to LABA: stop LABA, "dose of inhaled steriods, and add trial oforal theophylline (monitor plasma levels) or leucotriene inhibitor

Step 4: persistent poor control; further "dose of inhaled steroids

Step 5: continuous or frequent use of oral steroids; maintain "dose ofinhaled steroids Add oral prednisolone at lowest dose to provide adequatecontrol Refer to respiratory paediatrician

C: Growth retardation from disease or treatment with steroids, chest wall formity, recurrent infections, status asthmaticus can be fatal

de-P: Asthma often remits during puberty, and many children are symptom-free

as adults, especially those who have mild asthma and are asymptomaticbetween attacks, or who develop asthma at > 6 years Rates of admission and

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