Slipped Upper Femoral Epiphysis

Background

• One of the most common adolescent hip problems (around 10/100,000 children per year)
  • The epiphysis usually slips posteriorly relative to the diaphysis of the femur
• Most common in boys and occurs usually around the growth spurt in adolescence (mean age 13)
  • More common in overweight children; left hip slightly more prevalent
  • Whilst weight and mechanical factors (as well as others e.g. hypothyroidism; hypopituitarism; radiation treatment) may play a role, SUFE represents an underlying instability of the proximal growth plate- the exact cause of which is unknown

Classification

• The most important classification is whether the joint is
  • Stable (90%) i.e. the patient is still able to weight bear (function relatively unimpaired)
  • Unstable (10%) the patient is unable to weight bear- requires urgent management
• Other classifications include
  • time-based i.e. acute (symptoms for < 3 weeks); chronic and acute on chronic
  • Southwick angle classification (measurement of the difference between both hips in the femoral head-shaft angle on the frog radiograph)
    • Mild <30°; Moderate 30-50° and severe >50°
  • Grading by degree of slippage
    • I (Up to a third); II (up to a half); III (more than half)

Presentation

• Most commonly presents with hip and/or groin pain
  • Often an acute event but may present but can have had mild symptoms preceding this
  • Can present as radiated knee pain
  • Worse on movement/weight bearing
  • May cause antalgic gait
  • May limit hip movement- particularly internal rotation and abduction (indeed the leg may rest in external rotation/adduction)
• Differential
  • Perthes disease
  • Septic arthritis
  • Developmental dysplasia
  • Synovitis

Investigation

• X-rays
  • An x-ray of the pelvis will usually detect a SUFE
    • Trethowan’s sign
      • Klein’s line (the line drawn up the lateral edge of the neck of the femur) should intersect the femoral head. It fails to do so in SUFE due to slip.
    • You may also see widening of the growth plate (epiphysiolysis) and blurring of the proximal femoral metaphysis (overlapping of the metaphysis and displaced epiphysis)
• Occasionally, where diagnosis is in doubt, a CT or MRI may help confirm the diagnosis

Management

• Surgical management of the affected side
  • Percutaneous fixation with cannulated screw(s)
• There is some controversy as to whether to fix the other side also (bilateral in up to 20% of cases)- currently not recommended
• Without fixation, particularly in unstable cases, there is a risk of osteoarthritis; chondrolysis (breakdown of cartilage and subsequent bony degeration/damage) and avascular necrosis of the femoral head

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Scoliosis

Abnormal curvature of the spine in the coronal plane (>10°).

Background/epidemiology

• Scoliosis <10° is not abnormal (considered a normal variation)
  • Around half of patients with AIS (adolescent idiopathic scoliosis- most common form) develop a curvature >70°
• It is estimated to affect 2-3% of the population; 80% is idiopathic
• The most common type is adolescent idiopathic scoliosis (affects between 0.5 and 3% of people, most commonly between the ages 12-14, and, in IAS, is much more common in females (90%)
  • Other common types include
    • Juvenile idiopathic scoliosis (aged between 3 and 10; more common in females; likely to progress/require surgery due to curvature presenting prior to growth spurt at puberty)
    • Infantile idiopathic scoliosis (< age 3; more common in males)
    • Congenital idiopathic scoliosis
    • Neuromuscular and Pathologic Scoliosis (Secondary conditions)
• In older children, curvature is usually to the right.  In infants, left sided curvature is more common.
• As curvature progresses, vertebral bodies rotate towards convexity and spinous processes away from convexity.  In severe cases, this can impair cardiorespiratory function.

Presentation

• May be asymptomatic and detected by chance- note that screening is not routinely offered in the UK (some patients also have a family history)
• Usually present with back (thoracic) pain
• On examination (see back examination)
  • Shoulders/waistline may not be level and/or ribs/scapulae may be more prominent in certain areas
  • Note that the hip usually protrudes on the concave side
  • Adam’s Test
    • Ask the patient to bend forward- a fixed scoliosis becomes more prominent
  • It is important also to look for leg length inequality; any focal neurology (change in reflexes) or any signs of congenital/hereditary conditions e.g. midline skin defects, cafe au lait spots.

Investigations

• XR spine
  • Calculating the Cobb angle (between the uppermost and lowermost vertebra of the primary curvature seen on erect AP XR) is important in deciding management/prognosis

Management

• Exercises
  • Back exercises have very little effect on curvature but can maintain mobility/range of movement and may improve pain
• Bracing
  • Used mainly for curvatures between 20° and 40°, which are well balanced (i.e. have a compensatory secondary curve), and in patients who are growing (in puberty) in which a brace may halt the progression and occasionally improve the deformity
  • Usually not definitive- used mainly to maintain curvature stability in younger patients until adolescence when operative management may be more suitable
• Surgery
  • Spinal fixation (posterior spinal fusion most common) can be used in patients with a curvature of >40°
    • rare but carries risk of neurological complications

Kyphosis and Scheuermann’s disease

Kyphosis is the apical-dorsal curvature of the spine in the sagittal plane (i.e. curves away from the body).  There is normal thoracic kyphosis of around 20-40°.  Abnormal kyphosis is a curvature (measured as Cobb’s angle (between T2-T12)) of >45°.

Background/Aetiology

• Pathological kyphosis most commonly occurs in the thoracic spine although rarely can occur elsewhere in the spine.
• It is not uncommon amongst the elderly population (occurs in around 20-30% of patients >65) and is more common in women
• Risk factors include
  • Osteoporosis; vertebral (wedge) fractures and degenerative disc disease
  • Problems with proprioception; poor posture; spinal muscle weakness/attenuation
  • Other causes include trauma; ankylosing spondylysis and other arthritides; and rarely neoplasms and infections
• Kyphosis can impair physical functioning; quality of life and mortality directly and indirectly
  • Increased risk of vertebral fracture
  • May affect balance and likelihood of falls
  • Decline in gait speed/mobility
  • In some cases, can impair pulmonary, GI and gynaecological function

Presentation

• Most patients are asymptomatic and kyphosis is purely aesthetic
• Some may present with back pain
• On examination, there is usually a thoracic kyphosis and there may also be compensatory lumber hyperlordosis
  • Tight hamstrings/difficulty with straight leg raise may also be present
• Rare but important features include those of myelopathy i.e. neurological problems (including pain/altered sensation, weakness, altered tone/reflexes, problems with gait etc)
• Indications for surgical management (note not absolute)
  • Neurological deficits
  • Kyphosis >70° (no pain) or >65° with pain
  • Loss of anterior vertebral height >50%

Management

• For purely postural related kyphosis, exercises and education about posture may benefit patient symptoms (may not entirely relieve kyphosis)
• Surgical management is reserved only for severe cases
  • Smith-Peterson osteotomy, pedicle subtraction and vertebral column resection can all be options for corrections
  • Anterior release spinal fusion may also be used in Scheuermann’s disease/severe cases

Scheuermann’s disease

• In children and adolescents, abnormal kyphosis can occur as what is thought to be the result of a genetic defect causing collapse of the vertebrae
  • A family history is common
  • Patients
• Classically defined as anterior wedging of >5° across three consecutive vertebrae, and is different from postural kyphosis by the rigidity of the kyphosis (not corrected by hyperextension)

Examination of the Newborn

The newborn examination is carried out within 48 hours of birth, then again at 8 weeks (usually by the GP).

• WIPE
  • Wash hands, introduce self (ideally mother should be present), check mother and baby details* and explain the examination/gain consent
    • * Check name, DOB, gestational age, birth weight (and centile), delivery type, feeding (and how will they feed)/urinating/bowel movements (any meconium passed?- black, sticky stool), any parental concerns (ask specifically about family problems with hips, congenital heart problems etc)
      • NB this can be done whilst washing your hands or whilst parent/you are undressing the baby
• General inspection (Completely undress the baby down to nappy)
  • Note skin colour (any jaundice; any marks from birth, any obvious birthmarks); activity, posture, response
    • NB You will have to examine the baby’s back so best to leave general inspection of that until then- you may do this first or last.
• Head
  • Measure and record head circumference
  • Palpate the fontanelles and sutures
    • Note any tense fontanelles (remember this may be normal when the baby is crying but is relatively rare at rest)
    • NB It may be easier to do this whilst examining the baby’s back
  • Assess facial appearance- eye position and ear position; any asymmetry
• Eyes
  • If the baby has its eyes open, check the red reflex with an ophthalmoscope (congenital cataracts)
  • Look for any obvious signs of infection
• Ears
  • Note size, shape, symmetry and whether they are set normal or low
  • Check the patency of the external auditory meatus
    • Note that formal hearing testing is offered later
• Mouth
  • If possible, look into the mouth to look at the palate (any cleft?)
    • DO NOT use a tongue depressor; only use your finger (clean) and be gentle
  • With a clean finger, check the suckling reflex
• Limbs
  • Feel the baby’s bones, checking symmetry
  • Count fingers and toes (looking for any abnormalities); check palmar creases; look for talipes (club foot)
  • Check the baby’s tone (this does not have to be a rigid examination of tone)
  • Check the clavicles (may be disturbed during birth and cause Erb’s palsy)
  • Check the hips using Ortolani and Barlow’s tests to check for any developmental dysplasia
  • Check if there is a grasp reflex in both hands
• Chest
  • Look at the baby’s chest; check respiratory rate (normally 30-60bpm)
  • Listen to the heart sounds (normally 120-150bpm).  It can be difficult to hear any murmurs but you should try.
  • Also check the radial, brachial and femoral pulses (and any radio-femoral delay)
• Abdomen
  • Palpate the abdomen and inspect the umbilical stump for any signs of infection
• Groin/Genitals
  • Remove the baby’s nappy and inspect the genitals.  In male babies, check for both testicles (any undescended)
• Back and Anus
  • With the baby on their front, inspect the back, particularly at the neck and the sacrum (look for any dimples)
  • Feel down the spine, checking for any curvature
  • Check the patency of the anus
  • As you are turning the baby back, it is good point to check the Moro reflex
    • With you holding/supporting the baby’s back (so the baby is lying on your arm face up); suddenly lower the baby and stop suddenly
      • the moro reflex is abduction and adduction of the arms, usually accompanied by crying (primitive startle reflex)

Remember also to carry out screening tests e.g. heel prick at 5-8 days; sweat test; formal hearing test etc.

Talipes Equinovarus (Club foot)

Background

• Inverted and plater flexed deformity of the foot/ankle, usually diagnosed at the newborn exam
• Occurs in around 1 in 1000 and twice as common in males
  • Around 50% are bilateral

Causes

• Usually idiopathic
• Associated with
  • Spina bifida; cerebral palsy; Edward’s syndrome (trisomy 18); oligohydramnios; arthrogryposis (multiple joint contractures at birth)

Diagnosis/Investigation

• Often clinical (rarely investigated further)

Management

• Ponseti method
  • Manipulation/progressive casting starting as soon as possible once the diagnosis has been made (within weeks of birth)
  • Usually successful after 6-10 weeks
• Patients may require Achilles tenotomy following this
• Night time braces can also be used up until the child is of school age

Child Protection

Background

• As doctors (and all other health care professionals which will come into contact with children), there is a responsibility to raise concerns about child welfare, in particular with regards to the child’s health.  By law, it is a doctors duty to report any concerns or suspicions regarding child welfare to the appropriate service (in most places, the child protection nurse)

Referring in Tayside

see here for guidelines and referral pathways (very in depth- but the appendices are useful and there is also a good explanation of the laws and standards governing child protection)

Communicating with Parents

The GMC suggests the following:

• Good communication with parents is essential.
  • In most cases, parents want what is best for their children, and are expert in identifying when their child’s behaviour is not normal and may be due to ill-health.
  • Doctors should acknowledge parents’ understanding of their children, particularly where children’s age or disabilities make communication with them difficult.
• You should explain that doctors have a professional duty to raise concerns if they think a child or young person is at risk of abuse or neglect, and make sure that parents are given information about the nature of concerns and how they will be investigated or acted upon, including if you are making a referral to local authority children’s services.
  • This information should be provided when concerns are first identified and throughout a family’s involvement in child protection procedures.
  • You must give parents opportunities to ask questions and keep them informed of progress, and be willing to answer their questions openly and honestly.
  • You should provide information about where they may find additional support and independent advice.
• Being open and honest with families when concerns are raised about a child’s safety, and avoiding judgemental comments or allocating blame, can foster cooperation and help children and young people stay with their families in safety.
  • Most people do not intentionally harm children in their care. However, a small number of parents do deliberately harm their children, and are dishonest in their account of events or lifestyle.
  • You must listen carefully to parents, children and young people, explore inconsistent accounts and keep an open mind about the cause of a child’s injury or other sign that may indicate abuse or neglect.
  • You must be prepared to justify your assessment and decision.

The GMC also emphasises that confidentiality is not absolute and that sharing information is important in such cases.  However, consent for information sharing should ideally be sought prior to sharing.

Paediatric BLS

1. Ensure safety
2. Check responsiveness
   1. Gently stimulate the child- ask loudly ‘Can you hear me?’ or ‘Are you alright?’
   2. Do not shake infants; or children with suspected spine injury
      1. If the child responds with noise or movement
         1. Leave them in the position they have been found in; check condition and get help; reassess regularly
3. If the child does not respond
   1. Shout for help
   2. Turn child onto their back and perform head tilt chin lift in a child (to sniffing air position)
      1. Jaw thrust can also be used in children, particularly if C-spine injury is suspected
      2. In infants, lift the chin, if necessary into a neutral position
   3. Look, listen and feel for breathing for no more than 10 seconds (at this point you may also assess for pulse (carotid in children and brachial in infants; alternatively a femoral))
      1. If the child is breathing, turn them onto the recovery position (in an infant, leave them lying supine)
         1. Send for help (call 999 etc) and reassess frequently
      2. If the child is breathing abnormally (e.g. snoring/obstructed), carefully remove any obvious obstruction (do NOT perform finger sweeps) then if still abnormal ->
4. If the child is not breathing
   1. Give 5 rescue breaths (over mouth for child and over nose and mouth in an infant)
      1. If unsuccessful, reassess airway and try again (attempt a maximum of 5 times)
   2. If there is a pulse, continue rescue breathing until help arrives or until the child starts breathing
5. If there is no pulse, start chest compressions
   1. In children, compress the lower half of the sternum (one fingerbreadth above the xiphisternum) by about a third of the depth of the chest (hard and fast) with the heel of your hand.
      1. In infants, compress the chest with the tips of two fingers
   2. 15 chest compressions at around 100-120bpm
   3. Give 2 rescue breaths and repeat compressions at 15:2
      1. If help has not been sought by another, seek help after a minute of resuscitation UNLESS there has been a witnessed sudden collapse which suggests a shockable rhythm (get help ASAP)

Hirschsprung’s Disease

Background/Epidemiology

• Incidence ~1:5000 live births/year; much more common in males (4:1); degree of genetic inheritability (increased risk if sibling is affected)
• Characterised by the absence of ganglion cells in the distal bowel, usually beginning at the internal sphincter and extending proximally
• It can be associated with chromosomal disorders e.g. Downs syndrome (1.5%) (Note, however that many more children with Downs syndrome have functional constipation)

Pathophysiology

• The absence of sympathetic innervation of the gut causes a failure to relax and constant tonic contraction.  This causes functional obstruction.

Presentation

• Usually within the first 28 days of life with delayed passage (>24 hours) of meconium; neonatal constipation and abdominal distension.
  • Poor growth may also be a feature
  • Around 12% present again in childhood with treatment refractory constipation, failure to thrive and occasionally enterocolitis
• It is not uncommon for there to be a family history
• Soiling is unusual

Investigations

• Rectal suction biopsy is the gold standard (histology shows lack of ganglion cells)
• AXR may show gaseous distension of the bowel
• Other possible tests include anorectal manometry and barium enema although these are not usually performed in children and aren’t as specific

Management

• Where there are signs of obstruction
  • Fluid resuscitation and NG suction
  • Bowel washouts may be useful
• Where possible, surgical excision of the affected gut can be performed (will effectively cure the problem)
  • However, this depends on the extent of GI tract involved

Childhood Anaemia

Background/Epidemiology

• Not uncommon
• Can be a cause of growth failure and slow development
• Can be defined as either <5th centile for age OR (easier)
  • <140g/l in a newborn; <110g/l in children 6 month – 4 years; <115g/l in children 5-11 years and <120g/l in children >12

Aetiology/Risk factors

• Remember that anaemia is not a diagnosis but a sydrome of signs which usually has an underlying cause.
  • In children, usually either decreased RBC production or increased turnover
• Risk factors
  • Decreased RBC production
    • Chronic disease e.g. renal disease, hypothyroidism, chronic inflammation/infection, IBD/Coeliac disease
    • Iron Deficiency
    • Poor diet
    • Prematurity
  • Increased RBC turnover
    • Drugs e.g. sulfamethoxazole, nitrofurantoin, phenytoin
    • Family history e.g. Thalassaemia, sickle cell,
    • Mechanical heart valve

Causes and Presentation

• Neonate
  • Haemorrhage (e.g. placental abruption; traumatic haematoma; subgaleal (scalp) haematoma; maternal-foetal and twin-twin transfusion)
    • ~5-10% of severe neonatal anaemia; usually normocytic with initially normal reticulocyte count (increasing); check Kleihauer-Betke test in maternal-foetal haemorrhage
    • Tachypnoea, pallor, irritability, poor feeding.  In severe cases, shock and cardiorespiratory collapse
  • Isoimmunisation (e.g. ABO incompatibility/Rh incompatibility)
    • ~10/10,000 births (Rh incompatibility)- half of which develop anaemia
    • Jaundice with mild anaemia; severe cases may present with hydrops fetalis (severe oedema)
    • Positive Coombs test; raised bilirubin; normocytic anaemia with raised reticulocytes
  • Congenital Haemolytic anaemia (e.g. Spherocytosis, G6PD deficiency)
    • Hyperbilirubinaemia and moderate jaundice
    • May show poikilocytosis (spiky RBCs), reticulocytosis, Heinz bodies and Bite cells or Spur cells
  • Congenital Infection (e.g. Parvovirus B19; HIV; syphilis; rubella; sepsis)
  • Rarely- congenital disorders such as Diamond-Blackfan syndrome (very rare; causes macrocytic anaemia); Fanconi anaemia
• Infancy- toddler
  • Iron Deficiency (e.g. poor diet, chronic occult blood loss (excessive cow’s milk consumption, IBD, Meckel’s diverticulum))
    • Not uncommon in this age group (up to 15%)
    • Usually asymptomatic; severe cases can present with fatigue, pallor, shortness of breath
    • Microcytic, hypochromic anaemia; low iron (low ferritin and iron saturation; with raised transferrin)
  • Chronic/recurrent infection (anaemia of chronic disease)
    • Presents usually with symptoms of infection
    • Normocytic, normochromic anaemia
  • Blood loss (e.g. trauma, GI bleed)
    • Usually presents with acute signs e.g. tachypnoea, tachycardia, pallor, hypotension
    • Haemoglobin may initially be normal but will fall (normocytic, normochromic)
  • Inherited disorders (e.g. Thalassaemia, sickle cell disease)
    • See pages- usually present in the first year of life
  • Other causes
    • RBC enzyme defects (G6PD, pyruvate kinase deficiencies)
    • RBC membrane defects (e.g. spherocytosis)
    • Acquired haemolytic anaemias (e.g. antibody mediated (incompatibility disease); drug-induced; Haemolytic uraemic syndrome; DIC)
    • Leukaemia
• Late childhood and adolescence
  • Iron deficiency can occur during growth spurts, menstruation, and change of diet (as above)
  • Chronic disease (renal, liver, hypothyroid and others)
  • Blood loss (as above (+ menstruation))
  • Blood disorders; haemolytic anaemias and leukaemias (as above)

Approach to the newborn with anaemia

• Newborn
  • Take a history of pregnancy/delivery (any suggestion of trauma or maternal-foetal haemorrhage; infections etc)
  • Check reticulocyte count to check marrow function (decreased RBC production e.g. Fanconi anaemia, Diamond Blackfan syndrome, congenital infections)
  • Look for signs of haemorrhage e.g. irritability/low conscious level, tachycardia/tachypnoea, jaundice
    • also check head circumference (subgaleal or intracranial bleed)
  • Check bilirubin (haemolysis) and then Coomb’s test

For older children

• Take a full history including family, past medical (including pregnancy, neonatal, development etc), travel, social (including diet)
• Check FBC, reticulocytes and blood film; iron studies; bilirubin; TFTs; and then investigate as required for conditions in the differential diagnosis

Haemophilia

Haemophilia A

Background/Epidemiology

• Factor VIII deficiency
  • Factor VIII is primarily synthesised by the liver and endothelial cells and has a half life of ~12 hours.  It is protected from proteolysis in the circulation by binding to von Willebrand factor.
• Affects 1/10000; most common congenital coagulation factor deficiency
  • Varies in severity according to mutation
    • Severe (<0.01U/ml)
    • Moderate (0.01-0.05U/ml)
    • Mild (>0.05 to 0.4U/ml)
• X-linked disease with 100% penetrance (i.e. all family members have the same gene)
  • As a result, female carries may also have reduced factor VIII levels compared to the general population
• families with haemophilia A can be offered prenatal diagnosis (chrorionic villous sampling)

Presentation

• Severe disease
  • Usually present with spontaneous bleeding into the skin, muscle and joints; retroperitoneal space and intracranially
• Moderate/mild disease
  • Similar features but associate with trauma rather than spontaneous
• Bleeding in the large joints and muscles are the major source of morbidity in patients with haemophilia
  • Recurrent haemarthroses causes synovial atrophy, destruction of cartilage and secondary osteoarthritis
  • Therefore, treatment of any hot, red, swollen joint in these patients needs to be prompt
  • Recognising compartment syndrome is also very important and swift management crucial for retaining function

Investigations

• Imaging of a baby known to have haemophilia should be performed within the first 24 hours of life to look for signs of intracranial bleeding
• Coagulation screen and measurement of coagulation factors VIII and IX will usually confirm the diagnosis (although exclusion of vWD type 2N should also be considered prior to definitive diagnosis using assays or molecular genetic testing)
• Imaging should be used in symptomatic patients to look for location and extent of bleeding

Management

• Severe disease
  • IV infusion of factor VIII concentrate for episode of bleeding
  • Weekly infusions can be given to children but is generally stopped once the patient has reached maturity
    • Patients receiving transfusions should be offered Hepatitis A and B immunisation
    • Patients may develop antibodies against transfused factor VIII (20%)
      • Alternative treatments include transfusions of activated clotting factors e.g. VIIa; or factor VIII inhibitor bypass activity (FEIBA)
• Mild-moderate disease
  • Vasopressin receptor agonist DDAVP can also help raise vWF and factor VIII by 3-4 fold
    • Monitor for water retention

Haemophilia B

• Rarer than Haemophilia A (~1:30000)
• Essentially the same disease but due to a deficiency of factor IX
  • Also X-linked
  • Also similar presentation and variety of severity (practically indistinguishable)
  • Also treated with factor IX replacement transfusion (less risk of antibody resistance)