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Paediatrics Pt. 4 Flashcards

1
Q

What is sickle cell anaemia?

A
  • Abnormal sickle-shaped red blood cells due to Hb S production instead of Hb A
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2
Q

What is the aetiology of sickle cell anaemia?

A
  • Autosomal recessive inherited point mutation in the b-globin gene resulting in a substitution of valine for glutamic acid on position 6, producing the abnormal protein, haemoglobin S
  • Disease depends on the karyotype: homozygous Hb S (sickle cell anaemia), heterozygous HbS (sickle cell trait), heterozygous Hb S and Hb C, Hb S, b-thalassaemia (sickle cell disease).
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3
Q

What is the epidemiology of sickle cell anaemia?

A
  • 1/1000 (UK)
  • Manifests >6/12 old (Hb-F in <6/12).
  • Common (5–12%) in African, Caribbean and Middle Eastern areas.
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4
Q

What are signs and symptoms of sickle cell anaemia?

A
  • Predisposing factors for a crisis: Infection, temperature change, dehydration
  • Thrombotic crisis: Severe abdominal pain (mimics acute abdomen), acute chest syndrome (SOB, cough, pain, pyrexia), severe bony tenderness and swelling especially of the small bones in hands and feet (avascular necrosis may follow), priapism.
  • Aplastic crises: secondary to parvovirus B19 infection of RBC progenitors causing temporary cessation of erythropoiesis and RBC lifespan shorten to 10–20/7. Characterised by sudden lethargy and pallor secondary to sudden decrease in Hb.
  • Splenic sequestration crisis: Sickled RBC pools in spleen, leading to sudden rapid enlargement, repeated splenic infarction, impaired splenic function (immunodeficiency). Repeated events cause splenic fibrosis and hypoplasia (autosplenectomy).
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5
Q

What are investigations for sickle cell anaemia?

A
  • Bloods: ↓ Hb, ↑ reticulocytes in haemolytic crisis, ↓ reticulocytes in aplastic crisis, U&Es.
  • Blood film: Sickle cells, anisocytosis, features of hyposplenism (target cells, Howell-Jolly bodies).
  • Haemoglobin electrophoresis: Hb S, absence of Hb A (in Hb SS) and increased levels of Hb F
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6
Q

What is the management of sickle cell anaemia?

A
  • Prophylaxis
    • Immunisation against encapsulated organisms (e.g. S. pneumoniae and H. influenzae type B)
    • Daily oral penicillin
    • Daily oral folic acid
    • Avoid exposure to cold, dehydration, excessive exercise, undue stress or hypoxia to prevent vaso-occlusive crisis
  • Treatment of acute crisis
    • Oral and IV analgesia
    • Good hydration
    • Infection should be treated with antibiotics
    • Oxygen (if reduced saturation)
    • Exchange transfusion is indicated for acute chest syndrome, priapism and stroke
  • Treatment of chronic problems
    • Children who have recurrent hospital admission for acute chest syndrome or vaso-occlusive crises could benefit from hydroxycarbamide (stimulates HbF production)
    • Monitor for white blood cell suppression (side-effect of hydroxycarbamide)
    • Bone marrow transplant may be considered in severe cases
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7
Q

What are complications of sickle cell anaemia?

A
  • Increased risk of infections with encapsulated organisms (Streptococcus pneumoniae, Haemophilus influenzae, meningococcus, Salmonella) secondary to autosplenectomy.
  • Gallstones, renal papillary necrosis, leg ulcers, cardiomyopathy and cerebral infarction.
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8
Q

What is the prognosis of sickle cell anaemia?

A
  • Major mortality in children is usually the result of infection.
  • Lifespan generally good dependent on complications
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9
Q

What is thalassaemia?

A
  • Inherited disorders of haemoglobin synthesis affecting a- and b-chain genes
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10
Q

What is the aetiology of thalassaemia?

A
  • Hb composed of 2a and 2b chains. Four genes code for a-chains (2 on each chromosome 16) and 2 for b-chains (1 on each chromosome 11).
  • Clinical manifestation depends on the amount of genes affected. a-Thalassaemia results from major deletions, b-thalassaemia from single base changes, small deletions of insertional mutations.
  • Lack of major deletions with b-thalassaemia = variable degrees of decreased b-chain production
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11
Q

What is the classification of alpha-thalassaemia?

A
  • α- thalassaemia trait (1/2 deleted) → Asymptomatic, mild anaemia
  • HbH disease (3 deleted) → Moderate anaemia, splenomegaly
  • Hydrops Foetalis (4 deleted) → Incompatible with life
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12
Q

What is the classification of beta-thalassaemia?

A

Β0 – no expression of the gene
Β+– some expression of the gene
Β – normal gene

  • β- thalassaemia minor (e.g. or β+/ β or β0/ β ) → Asymptomatic carrier, mild anaemia
  • β- thalassaemia intermedia (e.g. β+/ β+ or β0/ β+) → Moderate anaemia, splenomegaly, bony deformity, gallstones
  • β- thalassaemia major (β0/ β0) → 3-6mths severe anaemia, FTT, hepatosplenomegaly (extramedullary erythropoiesis), bony deformity, severe anaemia + heart failure
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13
Q

What is the epidemiology of thalassaemia?

A
  • a-Thalassaemia: 5–10% (Mediterranean), 20–30% (West Africa), 68% (South Pacific), <1% North Europe.
  • b-Thalassaemia: >1% (Mediterranean/India/South East Asia/North Africa/Indonesia), uncommon in other areas.
  • M = F.
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14
Q

What are the signs and symptoms of thalassaemia?

A
  • Minor thalassaemia: Normal examination, usually asymptomatic
  • Major thalassaemia: Variable presentation but may include severe pallor, slight to moderately severe jaundice, marked hepatosplenomegaly, growth retardation, bony abnormalities (frontal bossing, prominent facial bones and dental malocclusion),
    complications of severe anaemia (exercise intolerance/cardiac murmur/CCF), signs of
    endocrinopathy caused by iron deposits (secondary iron overload). Diabetes and thyroid or adrenal disorders.
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15
Q

What are investigations for thalassaemia?

A
  • Bloods: ↓ Hb, ↓ MCV/MCH, ↑ WBCs, left shift, normal platelets, ↑ serum Fe2+ /ferritin level.
  • Peripheral blood film: Marked hypochromasia and microcytosis, hypochromic macrocytes (polychromatophilic cells), nucleated RBCs, basophilic stippling and occasional immature leucocytes.
  • Hb electrophoresis: ↑ Hb-F +/- Hb-H/Hb-Barts
  • Imaging: Bone surveys, AUSS.
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16
Q

What is the management of thalassaemia?

A
  • Transfusions to maintain the Hb concentration > 100 g/L to reduce growth failure and prevent bone deformation
  • Repeated blood transfusion can cause iron overload which can lead to cardiac failure, liver cirrhosis, diabetes, infertility and growth failure
  • To prevent this, all patients are given iron chelation
    • Chelators include SC desferrioxamine or oral deferasirox
  • Good compliance with transfusion and chelation is associated with a high probability of surviving beyond 40 years
  • Bone marrow transplantation is the only cure for beta-thalassemia major
    • However, this is reserved for children with an HLA-identical sibling
  • Prenatal diagnosis
    • Prenatal diagnosis via chorionic villus sampling and genetic counselling should be offered to parents who are heterozygous for beta thalassaemia
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17
Q

What are complications of thalassaemia?

A
  • Fe2+ overload
  • Decreased growth
  • Sexual development
  • Decreased fertility
  • Osteoporosis
  • Osteopenia
  • Diabetes mellitus
  • Hypothyroidism
  • Hypoparathyroidism
  • Hypoadrenalism
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18
Q

What is the prognosis of thalassaemia?

A
  • Dependent on thalassaemia severity/Fe2+ overload/age at diagnosis.
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19
Q

What is haemophilia?

A
  • Haemophilia A = Factor 8 deficiency (MORE COMMON)

- Haemophilia B = Factor 9 deficiency

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20
Q

What is the aetiology of haemophilia?

A
  • X-linked inheritance

- 2/3 will have a family history

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21
Q

What are clinical features of haemophilia?

A
  • Graded as severe, moderate or mild depending on factor 8/9 level
  • Recurrent spontaneous bleeding into joints and muscles (HALLMARK)
    • This can lead to arthritis
  • Children tend to present towards the end of the first year of life
  • 40% present in the neonatal period with:
    • Intracranial haemorrhage
    • Bleeding post-circumcision
    • Prolonged oozing from heel stick and venepuncture sites
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22
Q

What is the management of haemophilia?

Which medication should be avoided in patients with haemophilia?

A
  • Recombinant factor 8 concentrate for haemophilia A
  • Recombinant factor 9 concentrate for haemophilia B
  • Acute bleeds are treated with IV factor concentrates and anti-fibrinolytics (e.g. amniocaproic acid, tranexamic acid)
  • Analgesia and physiotherapy for deep bleeds into muscles and joints
  • Possible orthopaedic and pain team review
  • In patients with haemophilia, the following should be AVOIDED:
    • IM injections
    • Aspirin
    • NSAIDs
  • Replacement therapy should be given at HOME to avoid delay in treatment
  • Prophylactic factor 8 is given to all children with severe haemophilia A to further reduce the risk of chronic joint damage
  • Desmopressin (DDAVP) may be useful in mild haemophilia A as it stimulates the endogenous release of factor 8 and vWF
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23
Q

What is von Willebrand disease?

A
  • Quantitative or qualitative deficiency of vWF

- Usually autosomal dominant

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24
Q

What are the clinical features of von Willebrand disease?

A
  • Bruising
  • Excessive, prolonged bleeding after surgery
  • Mucosal bleeding such as epistaxis and menorrhagia
  • Unlike haemophilia, spontaneous soft tissue bleeding is UNCOMMON
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25
Q

What is the management of von Willebrand disease?

A
  • Depends on type and severity
  • Type 1 vWD can be treated with DDAVP
    • NOTE: Can cause hyponatraemia and seizures in children <1 years old
  • More severe types of vWD have to be treated with plasma-derived factor 8 concentrate
  • Things to AVOID in vWD:
    • IM injections
    • Aspirin
    • NSAIDs
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26
Q

What is thrombocytopaenia?

A
  • Defined as a platelet count < 150 x 109/L

- May lead to bruising, petechiae, purpura and mucosal bleeding (e.g. epistaxis)

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27
Q

What is ITP?

A
  • MOST COMMON cause of thrombocytopaenia in childhood
  • Caused by destruction of circulating platelets by antiplatelet IgG autoantibodies
  • Reduced platelet count may be accompanied by a compensatory increase in megakaryocytes in the bone marrow
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28
Q

What are clinical features of ITP?

A
  • Most children present between 2-10 years
  • Tends to happen 1-2 weeks after a viral infection
  • Petechiae, purpura and/or superficial bruising
  • It may be accompanied by epistaxis and mucosal bleeding
  • Intracranial bleeding is a rare but serious complication
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29
Q

What are signs for ITP?

A
  • Diagnosis of exclusion
  • In younger children, a congenital cause (e.g. Wiskott-Aldrich syndrome or Bernard-Soulier syndrome) should be considered
  • Keep an eye out for atypical clinical findings such as:
    • Anaemia
    • Neutropaenia
    • Hepatosplenomegaly
    • Marked lymphadenopathy
    • NOTE: in the case of abnormal clinical findings, bone marrow examination should be conducted to exclude acute leukaemia or aplastic anaemia
  • NOTE: bone marrow examination is required before treatment with steroids because the steroid treatment could temporarily mask the diagnosis of acute lymphoblastic leukaemia (ALL)
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30
Q

What is the management of ITP?

A
  • In 80% of children, the disease is acute, benign and self-limiting (resolve in 6-8 weeks)
  • Most can be managed at home
  • Treatment is indicated if there is evidence of major bleeding (e.g. intracranial or gastrointestinal) or persistent minor bleeding that affects daily life (e.g. excessive epistaxis)
  • Lift- or Organ threatening bleeding
    • IVIG + corticosteroid + platelet transfusion
    • Antifibrinolytics may be used
  • Newly diagnosed child
    • Asymptomatic or minor bleeding
      • Observation (most will achieve a normal platelet count eventually)
    • Most manifestations are limited to the skin
    • Major bleeding
      • Corticosteroids
      • IVIG OR anti-D immunoglobulin
  • Child with chronic disease
    • Mycophenolate mofetil
    • Rituximab
    • Eltrombopag (thrombopoietin agonist)
    • 2nd line: splenectomy
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31
Q

What is a congenital diaphragmatic hernia?

A
  • Congenital defect in the formation of the diaphragm that leads to the protrusion of abdominal contents into the thoracic cavity
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32
Q

What is the aetiology of CDH?

A
  • General: More commonly unilateral although may be bilateral. Lt > Rt. Bowel or intra-abdominal viscera may herniated. Common for liver (Rt) and also spleen (Lt)
    to be herniated. There may be associated abnormal hepatic vasculature. Associated with abnormalities of the pulmonary tree, vasculature and surfactant deficiency (hypoplastic lungs).
  • Posterolateral Bochdalek hernia: 90% of cases, commonly left-sided, posterolateral defect.
  • Morgagni hernia: 3% of cases, commonly right-sided (90%), anteromedial defect.
  • Congenital hiatus hernia: Rare, stomach herniates through the oesophageal hiatus.
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33
Q

What is the epidemiology of CDH?

A
  • 1/2000–4000 live births

- M : F = 1.5 : 1

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34
Q

What are signs and symptoms of CDH?

A
  • Infants may have a history of polyhydramnios. Most commonly present with a history of cyanosis and respiratory distress in the immediate neonatal period.
  • If there is a left-sided posterolateral hernia, there may be poor air entry on the left and a shift of cardiac sounds into the right chest.
  • Smaller defects may present later in infancy with a diagnosis of a ‘wheezy child’ or recurrent chest infection
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35
Q

What are investigations for CDH?

A
  • Karyotype: Chromosomal studies.
  • Radiology: CXR (with prior placing of an orogastric tube to aid gastric positioning), cardiac ECHO (? right-sided aortic arch) and renal USS.
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36
Q

What is the medical management of CDH?

A
  • Once diagnosed, a large NG tube is passed and suction applied to prevent distension of the intrathoracic bowel
  • Once stabilised, the hernia will be surgically repaired
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37
Q

What is the surgical management of CDH?

A
  • Post-stabilisation of the neonate.
  • The approach can be via an open subcostal incision approach ( +/- thoracotomy incision), the laparoscopic transabdominal approach or the thorascopic approach.
  • The approach depends on surgeon’s choice and
    the position of the hernia (right CDH are unsuitable for laparoscopic approach due to the liver).
  • Surgical technique involves careful reduction of the herniated contents, definition of the posterior rim and repair with non-absorbable sutures +/- a synthetic patch (depending on the size of the defect).
  • A chest drain may be left in situ.
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38
Q

What are complications of CDH?

A
  • Pulmonary hypoplasia,
  • Intestinal malrotation (40%)
  • Gastric and mid-gut volvulus,
  • Gastric or other gastrointestinal perforations
  • Gastric volvulus
  • Bilateral renal hypertrophy.
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39
Q

What is the prognosis of CDH?

A
  • Reported mortality is 25–60%.

- Mortality closely associated with the degree of pulmonary hypoplasia.

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40
Q

What are inguinal hernias?

A
  • Abnormal protrusion of an intra-abdominal structure through the inguinal canal into the inguinal region or scrotum
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41
Q

What is the aetiology of inguinal hernias?

A
  • The testicle develops retroperitoneally and begins descent to the scrotum at 28/40.
  • This is under control of both hormones and the gubernaculum.
  • Peritoneal evagination creates the processus vaginalis and allows testicular descent thorough the ventral abdominal wall to the scrotum.
  • This normally obliterates by term but if it remains open (patent processus vaginalis), will allow the passage of bowel (inguinal hernia) or fluid (hydrocoele) through the inguinal canal.
  • In females, the gubernaculum becomes the ovarian ligament and round ligament; with a patent processus vaginalis, it extends into the labium majus and is known as the canal of Nuck.
  • Hernia content most commonly ileum (male), ovary (female).
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42
Q

What is the epidemiology of inguinal hernias?

A
  • 3–5% full-term infants and 30% premature infants.
  • M > F 5 : 1.
  • Right-sided (60%), left-sided (25%), bilateral (15%). 7% develop metachronous hernia post-repair (contralateral exploration is not recommended).
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43
Q

What are signs and symptoms of inguinal hernias?

A
  • Infant: History of intermittent inguinal/inguinoscrotal swelling. First presentation may be with incarceration. Unable to palpate the cord superiorly (possible with hydrocoeles). Reducible unless incarcerated (tender/red/firm). Non-transluminable.
  • Child: Supine and standing positions, expansile cough impulse and as above
  • Incarceration: Unsettled, pain, tender non-reducible inguinal scrotal mass, erythema, oedema, vomiting and abdominal distension (late signs).
  • Differential diagnosis of inguinal hernia: Hydrocoeles, retractile testes, undescended testes, femoral hernias and lymphadenopathy.
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44
Q

What are investigations for inguinal hernias?

A
  • USS used rarely to enable diagnosis in difficult cases
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45
Q

What is the management of inguinal hernias?

A
  • General: Herniotomy is performed. Hernia sac is located in the inguinal canal, separated from the vas deferens and testicular vessels, transected and ligated. Traditional repair using an inguinal open approach. Some centres use the laparoscopic approach with the placement of an intraperitoneal purse string for closure. Concerns over increasedd recurrence with laparoscopic technique.
  • Neonate: Reducible; elective repair at the next available theatre session with overnight post-operative cardiorespiratory monitoring.
  • Infant/Child: Elective repair as a day-case.
  • Incarceration: Manual reduction of the hernia contents under sedation (IV morphine) with repair after 48 hours to allow oedema to settle. Rarely operative reduction and repair if manual reduction fails.
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46
Q

What are complications of inguinal hernias?

A
  • Inguinal hernia: Incarceration (50% within first year of life).
  • Inguinal herniotomy: Recurrence (1–2%), damage to the vas deferens and testicular vessels (testicular atropy), ascending ipsilateral testicle secondary to scarring.
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47
Q

What is the prognosis of inguinal hernias?

A
  • Excellent with surgical repair
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48
Q

What is Henoch-Schlonlein Purpura?

A
  • Combination of the following
    • Purpuric rash over the extensor surfaces (particularly the buttocks and legs)
    • Arthralgia
    • Abdominal pain
    • Periarticular oedema
    • Glomerulonephritis
  • Often preceded by upper respiratory tract infection
  • Cause is unknown
  • IgA and IgG interact to produce complexes that activate complement and are deposited in affected organs –> vasculitis
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49
Q

What are the clinical features of HSP?

A
  • Fever
  • Rash
    • Symmetrically distributed over the buttocks and extensor surfaces of arms and legs
    • Trunk is usually spared
    • Usually palpable
    • First clinical feature in about 50% of cases
  • Joint Pain
    • Particularly knees and ankles
    • Accompanied by periarticular oedema
  • Colicky abdominal pain
    • Can be treated with corticosteroids
    • Can cause haematemesis and melaena
  • Renal involvement
    • Over 80% have haematuria or mild proteinuria
    • Usually, a complete recovery is achieved
    • Persistent haematuria or proteinuria is a risk factor for progressive CKD
    • So, all children with HSP should be followed for a year
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50
Q

What is the management of HSP?

A
  • Most cases will resolve spontaneously within 4 weeks
  • Paracetamol or ibuprofen for joint pain
  • Oral prednisolone if scrotal involvement, severe oedema or severe abdominal pain
  • IV corticosteroids are recommended in patients with nephrotic-range proteinuria and those with declining renal function
  • Renal transplant may be considered in end-stage renal disease
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51
Q

What is IgA Nephropathy?

A
  • May present with episodes of macroscopic haematuria
  • Commonly associated with upper respiratory tract infections
  • Histology and management are the same as HSP
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52
Q

What is HIV?

A
  • Virus that infects and disables the host’s CD4 T cells.
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53
Q

What is the aetiology of HIV?

A
  • Vertical transmission (>75%): In utero, perinatally or via breastfeeding.
  • Sexual transmission: Abuse in children, intercourse in adolescents.
  • IV drug abuse: Rare in children.
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54
Q

What is the epidemiology of HIV?

A
  • 2,000,000 children worldwide were suspected to be infected in 2007.
  • 1,800,000 of those children live in sub-Saharan Africa.
  • Higher rates of prevalence within children from ethnic minority groups.
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55
Q

What are clinical features of HIV in children?

A
  • General: Failure to thrive, developmental delay, chronic diarrhoea, lymphadenopathy, bilateral non-tender parotitis, hepatosplenomegaly
  • Infections
    1. Recurrent bacterial infections and viral infections
    2. Opportunistic infections (PCP is an AIDS-defining disease)
    3. Oral candidiasis: white/yellow plaques and loss of tongue papillae
    4. Herpes simplex: herpes labialis, gingivostomatitis, oesophagitis or chronic skin vesicles
    5. VZV: recurrent/persistent/severe infection
    6. Human papillomavirus: flat warts covering large areas of the body
    7. Fungal infections: tinea capitis resistant to treatment.
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56
Q

What are investigations for HIV?

A
  • Neonatal bloods: HIV serology and DNA for PCR are taken at birth before antiretroviral prophylaxis is commenced. Repeat bloods are taken at 6 weeks and 3 months and serology is repeated until the child is >18 months when maternal antibodies will have
    disappeared.
  • Confirmatory tests: HIV RNA PCR, CD4 count, baseline resistance screen.
  • Endoscopy: If oesophageal candidiasis is suspected.
  • Screen for other diseases: TB (Mantoux), hepatitis B/C, syphilis and toxoplasmosis.
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57
Q

What is the management of HIV in children?

A
  • Decision to start is based on a combination of clinical status, HIV viral load and CD4 count
  • IMPORTANT: infants should start ART shortly after diagnosis because they are at higher risk of disease progression
  • PCP prophylaxis with co-trimoxazole is given to infants who are HIV-infected, and for older patients with low CD4 counts
  • Other aspects of management:
    • Immunisation (except BCG)
    • MDT approach
    • Regular follow-up with particular attention to weight and developmental progress
  • Advise on risk reduction strategies
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58
Q

How to reduce vertical transmission of HIV?

A
  • Mothers with a high viral load are more likely to transmit HIV to their infant
  • Avoidance of breastfeeding also reduces transmission
  • In high-income countries, perinatal transmission of HIV is < 1% due to:
    • Use of effective ART during pregnancy and intrapartum to achieve an undetectable maternal viral load at delivery
    • Post-exposure prophylaxis given to infant
    • Avoidance of breastfeeding
    • Active management of labour/delivery to avoid prolonged rupture of the membranes and unnecessary instrumentation
    • Pre-labour caesarean section if the mother’s viral load is detectable close to the due date
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59
Q

What are complications of HIV?

A
  • Drug side effects, e.g. myelosuppression with zidovudine.
  • Poor compliance rapidly leads to drug resistance.
  • Opportunistic infections with progression of disease.
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60
Q

What is the prognosis of HIV?

A
  • Children with untreated HIV infection progress rapidly and approximately 25% develop AIDS in the first year of life.
  • Mortality is >50% by 2 years of age in poorly resourced areas.
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61
Q

What is G6PD deficiency?
Where is the condition prevalent?
What is the pathophysiology?
What is its genetic inheritance?

A
  • MOST COMMON red cell enzymopathy
  • High prevalence in central Africa, the Mediterranean, the Middle East and Far East
  • G6PD is the rate-limiting enzyme in the pentose phosphate pathway
  • It is essential for preventive oxidative damage to red cells
  • Red cells that do not have G6PD are susceptible to oxidant-induced haemolysis
  • G6PD deficiency is X-linked, so only occurs in males
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62
Q

What are stimuli of G6PD deficiency?

A
  • Antimalarials
    • Primaquine
    • Quinine
    • Chloroquine
  • Antibiotics
    • Sulphonamides (including co-trimoxazole)
    • Quinolones (ciprofloxacin, nalidixic acid)
    • Nitrofurantoin
  • Analgesics
    • Aspirin (in high doses)
  • Chemicals
    • Naphthalene
    • Divicine (fava beans)
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63
Q

What are clinical features of G6PD deficiency?

A
  • Neonatal jaundice
    • Usually within the first 3 days
    • MOST COMMON cause of severe neonatal jaundice requiring exchange transfusion
  • Acute haemolysis precipitated by
    • Infections (MOST COMMON)
    • Certain drugs
    • Fava beans
    • Naphthalene in moth balls
  • Haemolysis is mainly intravascular
  • Fever
  • Malaise
  • Abdominal pain
  • Passage of dark urine (contains haemoglobin as well as urobilinogen)
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64
Q

How is G6PD deficiency diagnosed?

A
  • Between episodes, patients will have a normal blood picture and NO jaundice or anaemia
  • Measuring G6PD activity in the red blood cells
  • NOTE: during a haemolytic crisis, G6PD levels may be misleadingly elevated due to higher enzyme concentration in reticulocytes
    • Reticulocytes are produced in increasing numbers in response to red cell destruction
    • A repeat assay should be performed once the episode is over
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65
Q

What is the management of G6PD deficiency?

A
  • Parents should be advised on the sign of acute haemolysis (jaundice, pallor, dark urine)
  • Given a list of drugs, chemicals and food to avoid
  • Acute Haemolysis
    • Supportive care + folic acid
    • Blood transfusion and renal support may be given in cases of severe anaemia with renal impairment
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66
Q

What is laryngomalacia?

A
  • Congenital abnormality that predisposes to dynamic supraglottic collapse during the inspiratory phase of respiration, resulting in intermittent upper airway obstruction and stridor.
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67
Q

What is the aetiology of laryngomalacia?

A
  • Poorly understood
  • Abnormalities in supraglottic anatomy
  • Laryngeal cartilage is flaccid and immature but improves with age
  • Neuromuscular incoordination or hypotonia
  • Neurological abnormalities found in up to 20% of children with LM
  • GORD is implicated and occurs in up to 80% of those with LM
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68
Q

What is the epidemiology of laryngomalacia?

A
  • Most common congenital anomaly
  • M:F = 2:1
  • Presents in the first few weeks of life with resolution between 12 - 24 months
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69
Q

What are signs and symptoms of laryngomalacia?

A
  • Stridor
  • Onset within 2 weeks of birth
  • Airway obstruction
    • Nasal flaring
    • suprasternal/intercostal/subcostal recession
    • tracheal tug
  • Resolution of symptoms by 2 years of age
  • Normal cry
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70
Q

What are the investigations for laryngomalacia?

A
  • Flexible laryngoscopy
  • Rigid laryngoscopy
  • CXR
  • ECG
  • Echo
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71
Q

What is the management of laryngomalacia?

A
  • Mild LM
    • Observation
    • GORD therapy: thickened feeds, ranitidine (or omeprazole), Nissen fundoplication
  • Moderate LM
    • Observation, Surgical therapy, BiPaP
  • Severe LM
    • Surgical therapy
    • BiPAP
  • GORD therapy as adjunct
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72
Q

What are complications of laryngomalacia?

A
  • GORD exacerbation
  • Life-threatening airway obstruction
  • Failure to thrive
  • Aspiration
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73
Q

What is the prognosis of LM?

A
  • Excellent
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74
Q

What is acute liver failure?

A
  • Acute failure of the hepatic cells to maintain normal function, also called fulminant hepatitis
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75
Q

What is the aetiology of acute liver failure?

A
  • Acute liver failure is caused by damage to the hepatic cells by:
    1. Infection: acute viral hepatitis (A, B); EBV may precipitate infectious mononucleosis hepatitis.
    2. Drugs/inadvertent poisoning: paracetamol, isoniazid, halothane and Amanita phalloides
      (poisonous mushrooms).
    3. Reye syndrome: there is convincing evidence that aspirin given to patients <14 years of age is associated with an acute non-inflammatory encephalopathy with associated liver damage (especially with concomitant varicella infection).
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76
Q

What is the epidemiology of acute liver failure?

A
  • Uncommon in children.

- EBV is common in adolescents (age 15–20) as it is transmitted through exchange of bodily fluids of close contacts.

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77
Q

What are the signs and symptoms of acute liver failure?

A
  • Jaundice
  • Encephalopathy (features include irritability, confusion and drowsiness)
    1. NOTE: older children may be aggressive
  • Coagulopathy
  • Hypoglycaemia
  • Electrolyte disturbance
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78
Q

What are investigations for acute liver failure?

A
  • Bilirubin may be NORMAL
  • MASSIVELY elevated transaminases
  • High ALP
  • Abnormal coagulation
  • High plasma ammonia
  • IMPORTANT: acid-base balance, blood glucose and coagulation should be monitored at all times
  • EEG - may show acute hepatic encephalopathy
  • CT - may show cerebral oedema
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79
Q

What is the management of acute liver failure?

A
  • Early referral to a national paediatric liver centre
  • Steps to stabilise the child:
    • Maintaining blood glucose (> 4 mmol/L) with IV dextrose
    • Preventing sepsis with broad-spectrum antibiotics and antifungals
    • Preventing haemorrhage with IV vitamin K and H2 antagonists/PPIs
    • Prevent cerebral oedema by fluid restriction and mannitol diuresis
  • Management is dependent on the suspected cause of acute liver failure
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80
Q

WHat are complications of acute liver failure?

A
  • Cerebral oedema
  • Haemorrhage from gastritis or coagulopathy
  • Sepsis
  • Pancreatitis.
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81
Q

What is the prognosis of liver failure?

A
  • Although acute liver failure is uncommon, it has a high mortality
  • Features of poor prognosis
    • Shrinking liver
    • Rising bilirubin
    • Falling transaminases
    • Worsening coagulopathy
    • Coma
82
Q

What is acute lymphoblastic leukaemia?

A
  • Malignant clonal disease characterised by proliferation of early B- and T-lymphocyte progenitors.
83
Q

What is the epidemiology of ALL?

A
  • General: Genetic lesions in the B- and T-lymphocyte progenitors. Karotype (80% are abnormal) = important predictor of outcome. Suggestion of in utero origin of the leukaemic clone (cord blood studies). B-cell precursor ALL is the most frequent.
  • Cytogenetic abnormalities:
    • 25% B-cell precursor ALL have the TEL-AML-1 fusion gene = t(12;21)(p13;q22).
    • Both genes are required for haematopoiesis.
    • TEL-AML-1 has been detected in cord blood.
    • Philadelphia chromosome t(9;22)(q34;q11) is characteristic of chronic myeloid leukaemia (CML) but is a significant abnormality with ALL.
    • 50% of T-cell ALL have activating mutations involving NOTCH1
84
Q

What is the epidemiology of ALL?

A
  • 30/million/yr.
  • Peaks 2–5 years old.
  • 85% of childhood leukaemias
85
Q

What are the signs and symptoms of ALL?

A
  • Symptoms of bone marrow failure: Anaemia (fatigue, dyspnoea), bleeding (spontaneous bruising, bleeding gums and menorrhagia if adolescent) and infections
    (bacterial/viral/fungal)
  • Symptoms of organ infiltration: Meningeal involvement with headache, visual disturbance and nausea, cranial nerve palsies, retinal haemorrhage or papilloedema on
    fundoscopy, lymphadenopathy, tender bones, mediastinal compression in T-ALL with dyspnoea, hepatosplenomegaly, testicular swelling.
86
Q

What are investigations for ALL?

A
  • FBC will be abnormal
    • Usually with a low Hb, thrombocytopaenia and evidence of circulating leukaemic blast cells
  • Bone marrow biopsy
  • Clotting screen
    • NOTE: 10% of patients with acute leukaemia have DIC at the time of diagnosis
  • Lumbar puncture can reveal disease in the CSF
  • CXR can reveal a mediastinal mass (characteristic of T-cell disease)
87
Q

What is the management of ALL?

A

Newly diagnosed: No CNS involvement

  • Induction chemotherapy (prednisolone, vincristine, anthracyclines and/or L-asparaginase)
  • Dexrazone (prevent cardiotoxicity from doxorubicin)
  • Rituximab (if CD20+ ALL)
  • Tyrosine kinase inhibitors (e.g. imatinib) - for Philadelphia chromosome-positive patients
  • Additional measures:
    • Fluid therapy + allopurinol (reduces uric acid and protect renal function)
    • Prophylactic antibiotics (infection)
    • Norethisterone an be given to female patients to suppress periods during therapy
  • Before starting treatment, anaemia may need to be corrected using blood transfusions and platelet transfusions may also be necessary
  • Remission is when leukaemic blasts are eradicated and normal marrow function is restored
  • Current induction regimens achieve remission rates of 95%

Central Nervous System Involvement

  • Cytotoxic drugs penetrate poorly into the CNS
  • Intrathecal chemotherapy is, therefore, required to prevent CNS relapse
  • Continuing chemotherapy of moderate intensity is usually continued for a relatively long time (up to 3 years)
  • High-dose chemotherapy, with or without total body irradiation followed by bone marrow transplantation, is used as an alternative to conventional chemotherapy after a relapse
88
Q

What are complications of ALL?

A
  • General: VTE (0–36%) secondary to chemotherapy protocols.
  • Chemotherapy: Cardiotoxicity, fertility problems, secondary malignancy (intracranial tumours, non-Hodgkin lymphoma) and relapse.
89
Q

What is the prognosis of ALL?

A
  • 60–80% 5-year survival (age dependent).
  • Poor prognosis: Philadelphia translocation t(9,22); 0–15% disease free at 5 years, age (<2, >10 years), male sex, WCC >100 x 10^9/L, t(4,11), T-cell ALL, CNS involvement at presentation, lack of response to treatment.
  • Good prognosis: t(12,21)
90
Q

What is acute myeloid leukaemia?

A
  • Malignant clonal disease characterised by a block in differentiation and unregulated proliferation of myeloid progenitor cells.
91
Q

What is the aetiology of AML?

A
  • General: Occurs primary or secondary to myeloproliferative or myelodysplasia/previous chemotherapy. 80% of children have clonal chromosomal abnormalities. Symptoms secondary leukaemic blast cells suppressing normal haemopoietic elements in the bone marrow and invading extramedullary sites
  • Cytogenetic abnormalities: 11q23 abnormalities most common (MLL gene rearrangement in 20%), others include M2 = t(8;21), M3 = t(15;17), M4Eo = inv(16).
    Specific abnormalities linked to outcome.
  • FAB (French American British) classification: 8 morphological variants: M0–M7. M1/2 (30–40%), M3 (10%), M4 (20–25%), M5 (20%) and M6/7 (10%).
92
Q

What is the epidemiology of AML?

A
  • 4–10/million
  • 60–70 new cases/year (UK)
  • 17% of all acute childhood leukaemias
  • M = F
93
Q

What are symptoms of AML?

A
  • Bone marrow failure: Anaemia (lethargy, dyspnoea), bleeding (DIC or thrombocytopenia in case of M3 promyelocytic leukaemia), infections (bacterial/viral/fungal).
  • Tissue infiltration: Gum swelling/bleeding, CNS involvement (headaches, nausea,
    diplopia) , bone pain.
  • Systemic: Malaise, weakness, pyrexia. Concurrent coagulopathy may be present (M3 and M5) leading to increased haemorrhage risk.
94
Q

What are signs of AML?

A
  • Bone marrow failure: Pallor, cardiac flow murmur, ecchymoses and infection (pyrexia, mouth infections, e.g. Candida, herpes simplex, skin infections, e.g. Pseudomonas, respiratory, perianal infections, e.g. E. coli and Streptococcus faecalis, perineal infections).
  • Tissue infiltration: Skin rashes, gum hypertrophy, deposit of leukaemic blasts may rarely be seen in the eye (‘chloroma’), hepatosplenomegaly, adenopathy and lymphadenopathy
95
Q

What are investigations for AML?

A
  • Bloods: Decreased Hb, decreased Plts, increased or decreased WCC, increased uric acid, increased LDH fibrinogen/D-dimers (if DIC is suspected in M3).
    Patients have a conserved clonotypic immunophenotype (‘molecular fingerprint’) that may be useful for disease monitoring.
  • Blood film: AML blasts show cytoplasmic granules or Auer rods.
  • Bone marrow aspirate/biopsy: Hypercellular with >30% blasts (immature cells). Histochemical stains, flow cytometry, cytogenetics +/- specimen banking (if consented).
96
Q

What is the management of AML?

A
  • More intensive than ALL as remission is more difficult to achieve and maintain.
  • Emergency: DIC with M3: FFP and platelet transfusions (see DIC)
  • Chemotherapy: Paediatric AML treatment protocols differ in medications/doses/schedules but share overall treatment strategy. Remission induction and CNS prophylaxis –> consolidation –> intensification phase +/- maintenance phase.
    Induction therapy aim = decreased leukaemic blast bone marrow % <5% (# extramedullary disease and restores normal haematopoiesis).
  • Allogenic stem cell transplantation: From a HLA-matched sibling in the first remission.
  • Supportive care: Central venous access, blood products/growth factors, infection treatment and prophylaxis, counselling.
  • Future: Possible immunotherapy with monoclonal antibodies.
97
Q

What are complications of AML?

A
  • Leucostasis (pulmonary/CNS infarcts secondary to highly increased WCC and WBC thrombi)
  • Chemotherapy side effects
  • Graft versus host disease (GVHD)
  • Relapse
  • Rejection (transplant).
98
Q

What is the prognosis of AML?

A
  • 34–56% survival from time of diagnosis.
99
Q

Describe bone tumours in children

A
  • Uncommon before puberty
  • Osteosarcoma is MORE COMMON than Ewing sarcoma
  • Ewing sarcoma is seen more often in younger children
  • Bone tumours are more common in MALES
100
Q

What are clinical features of bone tumours?

A
  • Limbs are the most common site
  • Persistent localised bone pain
    • Indication for an X-ray
  • Most patients are otherwise well
101
Q

What are investigations for bone tumours?

A
  • Plain X-ray
    • Shows bone destruction and periosteal new bone formation
    • In Ewing sarcoma, there is often a substantial soft tissue mass
  • MRI
  • Bone scan
  • Chest CT (to look for lung metastases)
  • Bone marrow sampling (exclude bone marrow involvement)
102
Q

What is the management of bone tumours?

A
  • Surgery with adjuvant or neo-adjuvant chemotherapy
  • Amputation is avoided if possible
  • Radiotherapy may be used for local disease or where resection is impossible
103
Q

What is obesity in children?

A
  • Body Mass Index (BMI) >85th centile (overweight) or >95th centile (obese) for sex and age
104
Q

What is the aetiology of obesity in children?

A
  • Total energy intake > total energy expenditure. Multifactorial.
  • Diet: Quantitative terms and relative fat content.
  • Psychosocial: Lifestyle, poor physical activity, food preferences, personal/family structure and stability.
  • Genetic predisposition: Leptin deficiency (obesity, hyperphagia and insulin resistance). Concordance rates for obesity are increased in monozygotic versus dizygotic twins.
  • Genetic syndromes: Prader–Willi syndrome, Lawrence–Moon–Biedl syndrome, muscular dystrophy (late presentation), Turner syndrome, trisomy 21.
  • Hormonal diseases: GH deficiency/resistance, hypothyroidism, PCOS, prolactin-secreting tumours, precocious puberty.
  • Acquired syndromes: Cushing syndrome.
105
Q

What is the epidemiology of obesity in children?

A
  • 10% of 5–17 year olds are overweight with 2–3% being obese (WHO International Obesity Task Force).
  • Underlying disease roughly 5% of cases.
106
Q

What are features in history and examination for obesity in children?

A
  • Dietary history + details of physical activities.
  • Psychosocial history.
  • Screen for potential complications + specific syndromes associated to obesity.
  • Detailed examination for stigmata of disease.
107
Q

What are investigations for obesity in children?

A
  • Nutritional assessment: BMI and triceps skinfold thickness.
  • Bloods: Cholesterol and triglyceride level. Endocrine assays for specific conditions, e.g. adrenal disease.
  • Urine: Glucosuria (type II diabetes).
  • Radiology: USS/CT/MRI head for specific conditions/syndromes.
108
Q

What is the management of obesity in children?

A
  • General: Exclude underlying medical condition. Involve parents in multifactorial treatment
  • Therapeutic aims
    1. Reduce excessive weight (growth needs should be included).
    2. Vitamin and micronutrient supplementation. Provide healthy food.
    3. Behaviour modification.
    4. Stepwise physical activity program
    5. Family support key for adherence
    6. Fat intake <30% of diet (WHO).
  • Surgical: Various bariatric surgical procedures have been used in adults. Possibility of adolescent application but not currently recommended.
109
Q

What are complications of obesity?

A
  • Psychosocial: Peer discrimination, bullying, decreased college acceptance, social isolation.
  • Growth: Advanced bone age, increased height, early menarche.
  • Respiratory: Sleep apnoea, pickwickian syndrome (obesity hypoventilation syndrome).
  • Orthopaedic: Slipped capital femoral epiphysis, Blount disease (idiopathic varus bowing of tibia).
  • Metabolic syndrome X: Characterised by insulin resistance and atherogenic dyslipidemia
    secondary to increased triglycerides/decreased HDL cholesterol and hypertension.
  • Hepatobiliary: Hepatic steatosis, gallstones
110
Q

What is the prognosis of obesity?

A
  • Obese children are likely to be obese in adulthood.
  • Patients with metabolic syndrome X are at significant risk of atherosclerosis
  • There is also an increasing incidence of Type II diabetes.
111
Q

What is vitamin D deficiency?

A
  • Mild: 25–50 nmol/l (10–20 ng/ml)
  • Moderate: 12.5–25.0 nmol/l (5–10 ng/ml)
  • Severe: <12.5 nmol/l (<5 ng/ml)
112
Q

What is the aetiology of vitamin D deficiency?

A
  • Decreased vitamin D intake
    1. Low sunlight exposure particularly in darker skinned or modestly covered individuals
    2. Nutritional: prolonged exclusive breastfeeding (especially if mother is vitamin D deficient), prematurity, unsupervised exclusion diet (e.g. in food allergy)
    3. Malabsorption (rare): coeliac disease, cystic fibrosis.

Metabolism of vitamin D:

  1. Severe renal or liver disease
  2. Anticonvulsant therapy (phenytoin)
113
Q

What is the epidemiology of vitamin D deficiency?

A
  • Vitamin D deficiency and rickets is increasing in the UK and is an important public health concern.
  • Asian, Afro-Caribbean and Middle Eastern groups are particularly at risk.
  • 85% of Asians compared to 3.3% of non-Asians had vitamin D levels <8 ng/ml (Birmingham, UK)
114
Q

What are signs and symptoms of vitamin D deficiency?

A
  • Infant presentation: Irritability, generalised seizures secondary to hypocalcaemia.
  • Early childhood: Poor growth, delayed dentition, slow motor development.
  • Classic rickets: Bowed legs, knock-knees, thickened wrists and ankles, rachitic rosary (enlargement of the costochondral junctions), frontal bossing, pathological fractures.
  • Adolescent presentation: Carpopedal spasm secondary to hypocalcaemia and classic rickets.
115
Q

What are investigations of vitamin D deficiency?

A
  • Decreased Vitamin D intake: decreased/N calcium, increased/decreased phosphate, increased/N PTH, increased ALP, decreased vitamin D.
  • Radiology: Wrist X-ray; cupping and fraying of metaphysial surfaces and widened epiphyseal plate in rickets
116
Q

What is the management of vitamin D deficiency?

A
  • In the UK all infants should receive vitamin D daily ((280–340 IU, multivitamin or fortified infant formula) and pregnant/lactating mothers should receive 400 IU daily.
  • Dietary vitamin D sources: Fatty fish (herring, mackerel, sardines, tuna, salmon), egg yolk, fortified foods (infant formula, shop-bought milk, breakfast cereal, margarine).
  • Supplementation for vitamin D deficiency: Ergocalciferol (vitamin D2) or cholecalciferol
    (vitamin D3) is indicated in nutritional vitamin D deficiency. Alfacalcidol should only be used if there is severe liver or renal disease. Oral calcium supplements are usually required initially if the child is hypocalcaemic and/or dietary intake is poor. Serial bloods should be measured. Treatment usually lasts 2–4 months.
117
Q

What are complications of vitamin D deficiency?

A
  • Rickets.

- Low maternal vitamin D may adversely affect the developing fetal brain

118
Q

What is the prognosis of vitamin D deficiency?

A
  • Bony abnormalities may take up to 2 years to resolve after treatment has been administered.
119
Q

What is child depression?

A
  • ICD-10 cardinal features: Depressed mood, anhedonia, low energy and fatigue leading to significant impairment of personal and social function.
  • Other features:
    1. Decreased Concentration and attention
    2. Decreased Self-esteem and self-confidence
    3. Guilt and unworthiness
    4. Bleak view of the future
    5. Ideas or acts of self-harm or suicide
    6. Disturbed sleep
    7. Diminished appetite.
  • Mild depressive episode: 2 cardinal + 2 other features for >2 weeks; mild intensity.
  • Moderate episode: 2 cardinal + 3–4 other features for >2 weeks; moderate intensity.
  • Severe episode: 3 cardinal þ >4 other features for >2 weeks; severe intensity.
  • Somatic symptoms (appetite, sleep): Present in severe episode but may not be in mild–moderate episode.
120
Q

What is the aetiology of childhood depression?

A
  • Genetic: Positive family history.
  • Environmental: Parental mental health problems, unemployment and poverty. Substance abuse, neglect, family break-up, single-parent families, life ‘events’, ‘looked after’ children, poor support network, lack of friends, isolation, abuse.
  • Systemic disease: Anaemia, postviral syndrome (e.g. EBV), hypothyroidism, chronic illness
121
Q

What is the epidemiology of childhood depression?

A
  • Twelve-month prevalence increases with age: 1% of children and 3% of adolescents.
  • M : F equal during childhood
  • But F > M during and after adolescence.
122
Q

What are signs and symptoms of childhood depression?

A
  • Manifestation of depression in children is affected by
    developmental stage and ability to identify and communicate internal emotions. Children and adolescents will often use other means of expression such as:
  1. Somatisation (frequent non-specific physical complaints) (children > adolescents)
  2. Poor academic performance, truancy/school refusal
  3. Being bored, lack of interest in anything
  4. Disorganised or reckless behaviour
  5. Separation anxiety, loss of interest in friends, social withdrawal
  6. Outbursts of shouting, complaining, unexplained irritability or crying
  7. Alcohol or substance abuse
  8. Hitting, biting and scratching
123
Q

What are investigations for childhood depression?

A
  • Bloods: FBC, LFTs, TFTs, U&E if clinical suspicion of systemic disease
124
Q

What is the management of childhood depression?

A
  • Child and family should be involved and supported.
    Psychological therapies: Individual and group CBT, interpersonal psychotherapy (IPT), family therapy, relaxation.
  • Medical: SSRIs (only fluoxetine is licensed in children) require careful monitoring for the appearance of suicidal behaviour, self-harm and hostility
125
Q

What are complications of childhood depression?

A
  • Poor school performance, unemployment, criminality, difficulty maintaining relationships.
  • Self-harm: A desperate attempt to draw attention to a perceived irresolvable situation. High rate of recurrence. Majority are not clinically depressed.
  • Suicide: 3% risk over following 10 years; most common in adolescent boys, increased risk if combined with alcohol/substance abuse.
126
Q

What is the prognosis of childhood depression?

A
  • 10% recover spontaneously within 3 months.
  • A further 40% recover within the first year. At 12 months 50% remain clinically depressed. By 24 months this figure is around 20–30%. Approximately 30% recur within 5 years.
127
Q

What is cerebral haemorrhage?

A
  • Bleeds inside the extradural, subdural or subarachnoid space
128
Q

What is the aetiology of cerebral haemorrhage?

A
  • Extradural: Direct head trauma causing arterial or venous bleeding.
  • Subdural: Birth trauma, forceps delivery, low-birth weight infants, high falls and nonaccidental injury (NAI) caused by shaking.
  • Subarachnoid: Ruptured berry aneurysm or arteriovenous malformation.
129
Q

What is the epidemiology of cerebral haemorrhage?

A
  • Extradural: In children 50% occur <2 years. M : F = 4 : 1.
  • Subdural: Occur mainly in young infants.
  • Subarachnoid: Rare in children.
130
Q

What are signs and symptoms of cerebral haemorrhage?

A
  • All intracranial haemorrhage may develop symptoms and signs of raised ICP as in all cases there is accumulation of blood within a closed cavity
  • Early signs increased ICP: Nausea, vomiting, confusion, drowsiness.
  • Late signs increased ICP: Cushing response (increased BP, decreased HR), ipsilateral third nerve palsy, papilloedema, coma.
  • Extradural: History of trauma, force and site of impact, severe headache, boggy haematoma.
  • Acute subdural: Shock, seizures and coma, retinal haemorrhages.
  • Chronic subdural: Macrocephaly, failure to thrive, developmental delay.
  • Subarachnoid: Sudden-onset occipital headache, retinal haemorrhages, neck stiffness, fever, seizures and progression to coma.
131
Q

What are the investigations for cerebral haemorrhage?

A
  • Bloods: FBC, clotting screen.
  • Skull X-ray: May show fracture, particularly over temporal bone region. Not usually indicated as CT is preferable mode of imaging.
  • CT: Best modality for detecting blood in the extradural/subdural space or CSF
    Indications for CT scan following head injury in children:
    1. Witnessed loss of consciousness or amnesia (antegrade or retrograde) lasting >5 min
    2. Abnormal drowsiness: paediatric GCS <15 in <1 year or <14 in >1 year in emergency
    department
    3. 3 discrete episodes of vomiting
    4. Clinical suspicion of non-accidental injury
    5. Post-traumatic seizure but no history of epilepsy
    6. Suspicion of open or depressed skull injury or tense fontanelle
    7. Signs of basal skull fracture (haemotympanum, ‘panda’ eyes, cerebrospinal fluid leakage
    from ears or nose, Battle’s sign)
    8. Focal neurological deficit
    9. Age <1 year: presence of bruise, swelling or laceration >5 cm on the head
    10. Dangerous mechanism of injury
  • Lumbar puncture: Xanthochromia (subarachnoid).
  • Angiography: May show aneurysms or AV malformations in subarachnoid haemorrhage.
132
Q

What is the management of cerebral haemorrhage?

A
  • Cervical spine immobilisation: If traumatic mechanism of head injury.
  • Supportive care: Ventilatory support and blood transfusions if shocked.
  • Treatment of increased ICP: 30% head of bed elevation, mannitol, hypertonic saline.
  • Extradural: Surgical evacuation of haematoma and coagulation of bleeding sites.
  • Subdural: Surgical evacuation of haematoma.
  • Subarachnoid: Surgical correction of AV malformation or radiological clipping of aneurysm
133
Q

What are the complications of cerebral haemorrhages?

A
  • Hydrocephalus
  • Uncal/central herniation secondary to increased ICP
  • Cerebral ischaemia
  • Vasospasm and rebleeds in subarachnoid haemorrhages.
134
Q

What is the prognosis of cerebral haemorrhages?

A
  • Extradural: Good with early intervention. GCS prior to surgery correlates well with mortality and neurological sequelae.
  • Chronic subdural: Depends on the cause and associated brain injury. 3% mortality rate. At follow-up 75% have normal development.
  • Acute subdural and subarachnoid: >60% mortality
135
Q

What is an intraventricular haemorrhage?

A
  • Intraventricular haemorrhage usually arising in the germinal matrix and periventricular regions of the brain.
  • Grade I: germinal matrix haemorrhage only.
  • Grade II: blood within the lateral ventricle without ventricular dilation.
  • Grade III: blood within the lateral ventricle with ventricular dilation.
  • Grade IV: IVH with periventricular parenchymal haemorrhagic infarct.
136
Q

What is the aetiology of an intraventricular haemorrhage?

A
  1. Prematurity (major factor).
  2. Factors that increase/decrease BP: hypovolaemia, hypotension, hypertension, pulmonary haemorrhage, mechanical ventilation, increased pCO2, decreased pO2, prolonged labour, PDA.
  3. Others: acidosis, hypothermia, HIE, severe RDS, pneumothorax, coagulopathy.
137
Q

What is the epidemiology of intraventricular haemorrhages?

A
  • Most common in very low-birthweight infants: 30–40% of infants weighing <1500 g
  • 50–60% of infants weighing <1000 g.
138
Q

What are signs and symptoms of intraventricular haemorrhages?

A
  • Highest incidence in first 72 h of life, 60% within 24 h, 85% within 72 h, <5% after 1 week postnatal age.
  • Signs and symptoms: May be asymptomatic (grade I or II), seizures, poor tone, apnoea, lethargy, shock and anaemia (grade III or IV).
  • Signs of raised ICP: Bulging fontanelle, Cushing response (increased BP, decreased HR).
  • Monitor head circumference: For progressive hydrocephalus.
139
Q

What are investigations for intraventricular haemorrhages?

A
  • Bloods: FBC, clotting, capillary gas for acid/base balance.
  • USS: Used in the diagnosis and classification of IVH.
140
Q

What is the management of intraventricular haemorrhages?

A
  • USS in infants <32 weeks gestational age within the first week of life and should be repeated in the second week.
  • Prevention: Maintain acid/base balance and avoid BP changes.
  • Supportive care: Ventilatory support and blood transfusion in large haemorrhage.
  • Treatment of increased ICP: Diuretics (mannitol) may be required.
  • Interventional: External ventriculostomy or permanent ventricular–peritoneal shunt.
141
Q

What are complications of intraventricular haemorrhages?

A
  • Hydrocephalus (10–15%),

- Neurological impairment.

142
Q

What is the prognosis of intraventricular haemorrhages?

A
  • Grade I and II: Rarely have harmful neurological consequences, as they originate in the germinal matrix (which disappears) and do not normally extend into the white matter.
  • Grade III: 30–45% incidence of neurological impairment.
  • Grade IV: 60–80% incidence of neurological impairment.
143
Q

What is the epidemiology of brain tumours?

A
  • Almost always PRIMARY rather than metastatic
  • 60% are infratentorial
  • MOST COMMON solid tumour in children and the leading cause of childhood cancer death in the UK
144
Q

What are different types of brain tumours?

A
  • Astrocytoma (40%)
    • Varies from benign to highly malignant (Glioblastoma multiforme)
  • Medulloblastoma (20%)
    • Arises in the midline of the posterior fossa
    • May seed through the CNS via the CSF
    • Up to 20% have spinal metastases at diagnosis
  • Ependymoma (8%)
    • Mostly found in the posterior fossa (and behaves like a medulloblastoma)
  • Brainstem glioma (6%)
    • POOR prognosis
  • Craniopharyngioma (4%)
    • Arising from squamous remnant of Rathke pouch
    • Not truly malignant
    • Atypical teratoid/rhabdoid tumour
    • RARE but aggressive
145
Q

What are clinical features of brain tumours?

A
  • Presentation varies according to age (and ability to report symptoms)
  • Signs and symptoms are often related to raised ICP
  • Focal neurological signs may be present depending on site and size of tumour
  • Papilloedema may be present
  • Spinal tumours can present with back pain, peripheral weakness of arms or legs or bladder/bowel dysfunction (depending on the level of the lesion)
146
Q

What are investigations for brain tumours?

A
  • MRI

- Lumbar puncture (reveal metastases)

147
Q

What is the management of brain tumours?

A
  • SURGERY
  • Aimed at treating hydrocephalus, providing tissue diagnosis and attempting maximum resection
  • Radiotherapy and chemotherapy
148
Q

What is Hodgkin lymphoma?

A
  • Lymphomas are neoplasms of lymphoid cells, originating in lymph nodes or other lymphoid tissues.
  • Characterised histopathologically by Reed–Sternberg cell, and T-cell dysfunction.
149
Q

What is the aetiology of Hodgkin lymphoma?

A
  • Likely to be due to environmental triggers in a genetically susceptible individual (may be due to defect in cell-mediated immunity).
  • EBV genome has been detected in roughly 50% of Hodgkin lymphomas, but its role in its pathogenesis is unclear.
150
Q

What is the epidemiology of Hodgkin lymphoma?

A
  • Incidence: 1/100,000/year. Non-Hodgkin (85%) > Hodgkin (15%).
  • Age of presentation: Late childhood/adolescence.
  • M : F = 2 : 1.
151
Q

What are symptoms of Hodgkin lymphoma?

A
  • Enlarged lymph nodes: Painless enlarging mass, often in neck, occasionally axilla or groin.
  • Constitutional B symptoms: Fevers >38 C, night sweats, weight loss >10% bodyweight
    in 6 months.
  • Others: Pruritus, cough or dyspnoea with intrathoracic disease, SVC obstruction (blackouts, dyspnoea, feeling of fullness in the head).
152
Q

What are signs of Hodgkin lymphoma?

A
  1. Non-tender firm lymphadenopathy (cervical, axillary or inguinal).
  2. Splenomegaly, occasionally hepatomegaly.
  3. Skin excoriations.
  4. Signs of intrathoracic disease: SVC obstruction (facial oedema, increased JVP).
153
Q

What is the pathophysiology of Hodgkin lymphoma?

A
  • Histological subtypes
    1. Nodular sclerosing (70%)
    2. Mixed cellularity (20%)
    3. Lymphocyte predominant (5%)
    4. Lymphocyte depleted (5%)
  • Reed–Sternberg cell: Large cell with abundant pale cytoplasm and two or more oval lobulated nuclei containing prominent ‘owl-eye’ eosinophilic nucleoli.
154
Q

What are investigations for Hodgkin lymphoma?

A
  • Bloods: Decreased Hb (normochromic, normocytic), leucocytosis, eosinophilia, lymphopenia (with advanced disease), increased ESR, increased CRP, increased LDH, increased AST/ALT (with liver involvement).
  • Lymph node biopsy: Immunophenotyping, cytogenetics.
  • Bone marrow aspirate and trephine biopsy: Involvement seen only in very advanced disease.
  • Imaging: CXR, CT (thorax, abdomen, pelvis), gallium scan, PET scan
  • Staging (Ann Arbor)
155
Q

What is Ann Arbor Staging?

A
  • I: single lymph node region
  • II: two or more lymph node regions on one side of the diaphragm
  • III: lymph node regions involved on both sides of the diaphragm
  • IV: extranodal involvement (liver or bone marrow)
  • A: without B symptoms; B: with B symptoms; E: localised extranodal extension; S: spleen involved.
156
Q

What is the management of Hodgkin Lymphoma?

A
  • Chemotherapy with/without radiotherapy
  • PET scanning is used to monitor treatment response
  • 80% cure rate
157
Q

What are complications of Hodgkin Lymphoma?

A
  • Late malignancy 2 to chemotherapy: AML (1% at 10 years), NHL or solid tumours.
  • Inverted Y irradiation: Infertility, early menopause, skin cancer.
  • Mantle irradiation: Thyroid disease, accelerated CAD, pulmonary fibrosis.
158
Q

What is the prognosis of Hodgkin Lymphoma?

A
  • Stage I, II: 80–90% cured.
  • Stage III, IV: 50–70% cured.
  • Poor prognostic factors: B symptoms or if lymphocyte-depleted histological subtype.
159
Q

What is Non-Hodgkin Lymphoma?

A
  • Lymphomas are neoplasms of lymphoid cells originating from lymph nodes or other lymphoid tissues.
  • NHLs are a diverse group, 85% B cell, 15% T cell, and NK cell neoplasms, ranging from indolent to aggressive disease, which can be referred to as low-,
    intermediate- and high-grade NHL.
160
Q

What is the aetiology of Non-Hodgkin Lymphoma?

A
  • Environmental triggers in a genetically susceptible individual result in DNA mutations or translocations –> uncontrolled proliferation of lymphoid cells.
161
Q

What is the epidemiology of Non-Hodgkin Lymphoma?

A
  • Incidence: 1/100,000/year.
  • Non-Hodgkin (85%) > Hodgkin (15%).
  • Onset: Late childhood/adolescence
  • M : F = 2 : 1.
162
Q

What are symptoms of Non-Hodgkin Lymphoma?

A
  • Localised: Stage I, II, relatively unusual; cough, sore throat with enlarged neck glands or tonsils, or in the ileocaecal region presenting as intussusception.
  • Aggressive/rapidly enlarging:
    1. Mediastinal T-cell tumour: respiratory or SVC obstruction
    2. Infiltrative, large retroperitoneal B-cell tumour: vomiting, abdominal pain
    3. Dissemination (stage IV): presents as ALL with masses.
163
Q

What are signs of Non-Hodgkin Lymphoma?

A
  • General: Non-tender, firm lymphadenopathy (cervical, axillary or inguinal), hepatosplenomegaly, signs of bone marrow involvement (anaemia, infections or purpura).
  • Specific:cutaneous T-cell lymphomas:
    1. Mycosis fungoides: well-defined, thickened, indurated, scaly, plaque-like lesions
  2. Sezary syndrome  : erythroderma, peripheral lymphadenopathy, and cellular infiltrates of
atypical lymphocytes (Sezary cells).
164
Q

What are investigations for Non-Hodgkin Lymphoma?

A
  • Bloods: decreased Hb secondary to bone marrow involvement: neutropenia and thrombocytopenia (may also be due to hypersplenism), increased ESR, increased CRP, increased LDH (used as a prognostic marker), increased ALT/AST with liver involvement, increased Ca2+ .
  • Blood film: Lymphoma cells may be visible in some patients.
  • Lymph node biopsy: Immunophenotyping, cytogenetics.
  • Bone marrow aspirate/biopsy.
  • Imaging: CXR, CT (thorax, abdomen, pelvis).
  • Staging: NHL has traditionally been staged according to extent of disease spread using the Ann Arbor system (see Hodgkin lymphoma). In NHL prognosis is more closely related to histological type (REAL classification).
165
Q

What is the management of NHL?

A
  • Multiagent chemotherapy

- Survival rates of 80% are achieved in both B and T cell disease

166
Q

What is Burkitt lymphoma?

A
  • Type of B-cell NHL
  • Three variants
  • Endemic variant most commonly occurs in children living in malaria endemic regions - it is the most common childhood cancer in Africa
  • EBV is found in nearly all patients with Burkitt lymphoma
  • NOTE: chronic malaria is thought to reduce resistance to EBV infection
  • The disease usually involves the jaw or other facial bones
  • In the Western world, cases are sporadic and are associated with EBV infection
  • Immunodeficiency-associated Burkitt’s lymphoma is usually associated with HIV infection or occurs in patients on immunosuppression
  • Treated with multiagent chemotherapy
167
Q

What is a neuroblastoma?

A
  • Arise from neural crest tissue in the adrenal medulla and sympathetic nervous system
  • Can spontaneously regress
  • Spectrum of disease from benign (ganglioneuroma) to highly malignant (neuroblastoma)
  • Most common < 5 years of age
168
Q

What are clinical features of a neuroblastoma?

A
  • Pallor
  • Weight loss
  • Abdominal mass (present in most children with neuroblastoma)
    • NOTE: tumour can be anywhere along the sympathetic chain from neck to pelvis
  • Hepatomegaly
  • Bone pain
  • Limp
  • Rare symptoms: paraplegia, cervical lymphadenopathy, proptosis, periorbital bruising, skin nodules
169
Q

What are investigations for neuroblastoma?

A
  • CT/MRI
  • High urine catecholamine metabolites (VMA and HVA)
  • Biopsy
  • Bone marrow sampling
  • MIBG scan
    • MIBG is a molecule that is taken up by neuroblastoma cells, so if the MIBG is labelled with radioactive iodine, it can be used to identify areas of high uptake
    • It can also be used as a form of targeted radiotherapy
  • Most children presenting > 1 year of age present with advance disease and have a POOR prognosis
170
Q

What is the management of neuroblastoma?

A
  • Localised primaries without metastatic disease can be cured with surgery alone
  • In some infants, neuroblastoma can resolve spontaneously
  • Metastatic disease in older children is treated with chemotherapy (carboplatin, etoposide, cyclophosphamide, doxorubicin)
  • This includes high-dose therapy with autologous stem cell rescue, surgery and radiotherapy
  • This is associated with a high risk of relapse
  • Cure rates for children with metastatic disease is around 40%
171
Q

What is epilepsy?

A
  • Two or more seizures unprovoked by any immediately identifiable cause.
172
Q

What is the aetiology of epilepsy?

A
  • Idiopathic: Many have positive family history.
  • Symptomatic: Head trauma, encephalitis, meningitis, CNS tumours, hypoxic–ischaemic injury, intrauterine infections, cerebral dysgenesis and specific aetiologies (e.g. TS).
173
Q

What is the epidemiology of epilepsy?

A
  • 1% of children
174
Q

What are generalised seizures characterised by?

A 
- Absence seizures: Onset 4–12 years. Short episodes (<20 s) during which the child stares or
blinks, with no apparent awareness of the surroundings. Can occur >100x/d. No aura or postictal phase. May present as ‘day-dreaming’ in class or decreased in school performance.  Usually undergo spontaneous remission during adolescence.
  • Myoclonic seizures: Sudden brief muscle contractions; often cluster within a few minutes. If they evolve into rhythmic jerking movements, they are classified as a clonic seizure.
  • Atonic seizures: Consist of brief loss of postural tone, often resulting in falls and injuries. This
    seizure type occurs in people with significant neurological abnormalities.
  • Clonic seizures: Rhythmic, jerking movements.
  • Tonic seizures: Sudden-onset tonic extension or flexion of the head, trunk and/or extremities for several seconds.
  • Generalised tonic-clonic seizure (GTCS): Tonic extension lasting for a few seconds followed by clonic rhythmic movements and a prolonged postictal phase. Often associated with tongue biting, urinary or faecal incontinence.
  • Status epilepticus: A generalised convulsion lasting >= 30 minutes or repeated convulsions occurring over 30 minutes without recovery of consciousness between each convulsion.
175
Q

What are partial-onset seizures characterised by?

A
  • Simple partial seizures: Seizure with preservation of consciousness; includes sensory, motor, autonomic and psychic experiences. Tonic or clonic movements are initially localised but may move to different parts of the body if the seizure is propagated.
  • Complex partial seizures: Similar to simple partial seizure but consciousness is impaired and the episode is followed by postictal phase.
  • Partial seizures with secondary generalisation: Focal seizure is followed by GTCS.
176
Q

What are epilepsy syndromes characterised by?

A
  • Infantile spasms: Affect infants aged 4–8 months. Clusters of myoclonic spasms; classic ‘salaam’ attack where child jerks forward with arms flexed and hands extended. Usually have chronic epilepsy and developmental delay.
  • Lennox–Gastaut syndrome: Affects children aged 1–3 years. Characterised by multiple seizure types (tonic-axial, atonic and absence seizures), developmental regression and learning disability. Often chronic epilepsy resistant to therapy
  • Benign childhood epilepsy with centrotemporal spike: Affects children aged 4–10 years. Clonic seizures affecting face and upper limbs usually during sleep; may progress to GTCS. Also known as benign Rolandic epilepsy. Usually undergo spontaneous remission
    during adolescence.
  • Juvenile myoclonic epilepsy: Affects adolescents; idiopathic generalised epileptic syndrome characterised by myoclonic jerks, GTCS and sometimes absence seizures, usually on awakening. Usually require lifelong treatment but not associated with intellectual impairment.
177
Q

How is epilepsy examined?

A
  • General and neurological examination to rule out specific aetiologies (TS) and focal neurological signs.
178
Q

What are investigations for epilepsy?

A
  • EEG: Epileptiform spike and wave activity correlates with different forms of epilepsy (hypsarrhythmia in infantile spasms).
  • MRI: To rule out underlying pathology, e.g. glial tumour.
  • Lumbar puncture: If infective cause suspected.
  • ECG/ECHO/lying/standing BP: To exclude other causes of fit, faints and funny turns.
179
Q

What is the management of a child with suspected epilepsy?

A
  • Urgently refer to neurologist
  • ADVICE
    • Advise how to recognise a seizure
    • Record any future episode of possible seizures (e.g. by video)
    • Avoid dangerous activities until the diagnosis is confirmed (e.g. swimming, bathing)
    • Seek help if another seizure occurs before the referral
  • Specialist epilepsy nurse may provide education and give lifestyle advice to families
  • Decisions on treating epilepsy is dependent on the risk of recurrence, how dangerous or impairing the seizures are and how upsetting further seizures would be to the patient’s life
  • Treatment is NOT usually given for childhood rolandic epilepsy
  • Treatment of childhood absence epilepsy is aimed at maximising their educational potential and supporting social development
  • Antiepileptic Drug Therapy
    • NOT all children require AEDs
    • Decisions to treat should be based on seizure type, epilepsy type, frequency and social/educational consequences against the possibility of unwanted effects of antiepileptic drugs
    • Choose an appropriate AED for the seizure and epilepsy (e.g. carbamazapine can make absence and myoclonic seizures worse)
    • Monotherapy should be used at the minimum dosage to prevent seizures without adverse effects
    • ALL AEDs have potential adverse effects
    • AED levels are NOT checked regularly but may be measured to check adherence
    • Children with prolonged epileptic seizures (convulsive seizures with loss of consciousness > 5 mins) are given rescue therapy to keep with them
    • This is usually buccal midazolam
  • AED therapy may be discontinued after 2 years free of seizures
180
Q

How is an AED chosen for generalised seizures? (NICE Guidelines)

A
  • Generalised
    • Tonic-Clonic
      • 1st line: valproate
        • Alternatives: lamotrigine, carbamazepine, oxcarbazepine
        • NOTE: these can exacerbate myoclonic (lamotrigine) and absence (carbamazepine and oxcabazepine) seizures
    • Adjunctive treatment: clobazam, lamotrigine, levetiracetam, valproate, topiramate
181
Q

How is an AED chosen for absence seizures?

A
  • 1st line: ethosuximide or valproate
    • Alternative: lamotrigine
  • Adjunctive treatment: consider a combination of 2 of these 3 - ethosuximide, lamotrigine, valproate
182
Q

How is an AED chosen for myoclonic seizures?

A
  • 1st line: valproate
    • Alternatives: levetiracetam, topiramate
  • Adjunctive treatment: levetiracetam, valproate, topiramate
183
Q

How is an AED chosen for focal seizures?

A
  • 1st line: carbamazepine, lamotrigine
    • Alternatives: levetiracetam, oxcarbazepine, valproate
  • Adjunctive therapy: carbamazepine, clobazam, gabapentin, lamotrigine, oxcarbazine, valproate, topiramate
184
Q

What other treatments are there for intractable epilepsy?

A
  • Ketogenic diets (low carb, fat based)
  • Vagal nerve stimulation
  • Surgery (only in children with epilepsy that has a well-localised structural cause)
185
Q

What are complications of epilepsy?

A
  • Developmental delay
  • Poor school performance
  • SUDEP (500 deaths/year).
186
Q

What is the prognosis of epilepsy?

A
  • Predominantly on the type of epilepsy

- Patients with epilepsy have a mortality rate 2–3 x that of the general population.

187
Q

What is hydrocephalus?

A
  • Excess CSF from abnormal flow, absorption or production.
188
Q

What is the aetiology of hydrocephalus?

A

Obstructive hydrocephalus: disruption in the flow of CSF within the ventricular system

  1. Aqueductal stenosis or atresia: most common site of intraventricular obstruction in infants with congenital hydrocephalus.
  2. Obstruction of the 4th ventricle: Dandy–Walker syndrome (cystic dilatation of the 4th ventricle with cerebellar hypoplasia).
  3. Obstruction due to intracranial mass lesion: tumours of the posterior fossa (medulloblastoma, astrocytoma, ependymoma), haematomas, vein of Galen aneurysm.

Communicating hydrocephalus: Disruption in the flow of CSF in the surface pathways.
1. Arnold–Chiari malformations: herniation of cerebellar tonsils through the foramen magnum, frequently associated with neural tube defects:
a) Myelomeningocoele: outpouching of the spinal cord through the posterior bony
vertebral column.
b) Cranial meningocoele: meningeal sac protrudes through a skull defect.
2. Encephalocoele: protrusion of cerebral tissue through midline cranial defect located in frontal or occipital regions.
3. Meningeal adhesions: 2 to inflammation (meningitis) or haemorrhage (intraventricular or
subarachnoid).

Increased production of CSF
1. Choroid plexus papilloma: rare cause of hydrocephalus

189
Q

What is the epidemiology of hydrocephalus?

A
  • 3–5/1000 live births.
190
Q

What are symptoms of hydrocephalus?

A
  • Infants
    • Slow progression: Infants may thrive and develop normally apart from poor head control.
    • Rapid progression: Irritability, lethargy, failure to gain weight and achieve developmental milestones, vomiting.
  • Older children
    • Posterior fossa tumours: Cerebellar signs: ataxic gait, dyspraxia, slurred speech.
    • ‘Arrested’ hydrocephalus: Rare condition in which there is stable ventriculomegaly in the
      presence of a child with stable neurology.
191
Q

What are the signs of hydrocephalus?

A
  1. Progressive increase in occipitofrontal head circumference or >97th centile
  2. Wide open bulging anterior fontanelle
  3. Widening of the coronal, sagittal and lambdoidal sutures
  4. Eyes deviate downwards (‘setting sun’ sign)
  5. Papilloedema (uncommon in congenital hydrocephalus)
192
Q

What are investigations for hydrocephalus?

A
  • CT/USS: May show dilation of ventricles and any tumours or cysts present.
  • MRI: Shows greater anatomical detail, and with contrast illustrates flow through the aqueduct.
193
Q

What is the management of hyrocephalus?

A
  • Symptomatic relief of raised ICP and to minimise the risk of neurological damage
  • MAINSTAY: insertion of a ventriculoperitoneal shunt
  • Sometimes, endoscopic treatment to create a ventriculostomy is performed
  • Shunts can malfunction due to blockage or infection
  • They need replacement
  • Overdrainage can cause low pressure headache
194
Q

What are complications of hydrocephalus?

A
  • Shunt complications: Obstruction, infection, especially Staphylococcus epidermidis. Overdrainage can lead to subdural haemorrhage.
  • Long-term sequelae: Global developmental delay, impaired memory and vision, precocious puberty.
195
Q

What is the prognosis of hydrocephalus?

A
  • Some forms of hydrocephalus are temporary, such as meningeal adhesion secondary to infection or haemorrhage; some forms give rise to limited ventricular enlargement and then cease: compensated hydrocephalus.
  • However, in most cases the ventricles will continue to enlarge and compress brain matter, resulting in a very poor prognosis.
196
Q

What are migraines without aura?

A
  • 90% of migraines
  • Headache is often bilateral but can be unilateral
  • Characteristically pulsatile over the temporal or frontal area
  • Often accompanied by GI disturbance (e.g. nausea, vomiting, abdominal pain)
  • Photophobia and phonophobia
  • Aggravated by physical activity and relieved by sleep
197
Q

What are migraines with aura?

A
  • 10% of migraines
  • Headache is preceded by an aura (visual, sensory or motor)
  • Aura can occur without a headache
  • Common auras include visual disturbances:
    • Negative phenomena - hemianopia, scotoma (small areas of visual loss)
    • Positive phenomena - fortification of spectra (zigzag lines)
  • Rarely, it may cause unilateral sensory or motor symptoms (e.g. hemiplegic migraine)
  • Attacks usually last a few hours
  • Children will prefer to lie down in a quiet, dark room
  • Migraines have a genetic predisposition
  • Bouts can be triggered by disturbances of inherent biorhythms (e.g. late nights, early rises, stress, foods (e.g. cheese, chocolate, caffeine))
198
Q

What are uncommon forms of migraine?

A
  • Rarely, it may cause unilateral sensory or motor symptoms (e.g. hemiplegic migraine)
  • Attacks usually last a few hours
  • Children will prefer to lie down in a quiet, dark room
  • Migraines have a genetic predisposition
  • Bouts can be triggered by disturbances of inherent biorhythms (e.g. late nights, early rises, stress, foods (e.g. cheese, chocolate, caffeine))
    • Cyclical vomiting
    • Abdominal migraine
    • Benign paroxysmal vertigo of childhood
199
Q

What is the management of migraines?

A
  • Assess the severity and frequency of attacks, and the impact on the patient’s life:
    • Quality of attacks - intensity and site of pain, associated symptoms
    • Timing and frequency - when they start, reason for consultation, how often they occur, temporal pattern, how long they last, time off school
    • Possible causes - suspected triggers or emotional problems (e.g. bullying)
    • Other factors - general health in between attacks
  • Consider using a headache diary for a minimum of 8 weeks to identify triggers
  • Acute Management
    • Provide simple analgesia (paracetamol or ibuprofen)
    • For young people aged 12-17, offer combination therapy with nasal sumatriptan and an NSAID/paracetamol
    • NOTE: oral triptans are NOT licensed in people < 18 years
    • Consider aspirin monotherapy (but NOT in children < 16 years because of the risk of Reye’s syndrome)
    • Consider adding a non-oral NSAID (e.g. diclofenac suppositories)
    • Non-oral preparations of prochlorperazine and metoclopramide are licensed in children > 12 years
200
Q

What is tic disorder?

A
  • Tic: repetitive, involuntary and purposeless movements or vocal utterances
  • Categories
    • Simple - e.g. blinding, throat-clearing
    • Complex - e.g. self-hitting, swearing
  • Transient simple tics affect 10% of children
  • OCD is commonly comorbid
  • Stress or stimulants can worsen tics
  • They recede when the sufferer is concentrating on something else
  • They can be voluntarily suppressed, but this results in internal tension (which is relieved by expression of the tic)
201
Q

What is the management of tic disorders?

A
  • Reassurance and stress management
  • Clonidine (alpha-2 agonist)
  • Haloperidol (antipsychotic)

Specialties (14 decks)

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