i) Which of the following manoeuvres are appropriate? Give one answer.

iv) How would you describe the gas? Give one answer.

v) What ventilation manoeuvres could you do to improve the gas?

vi) What additional treatments could be considered?

vii) List five abnormalities on the chest x-ray.

viii) What is the oxygenation index?

ix) What is the most likely diagnosis?

x) List four possible treatments.

i) What is the most likely diagnosis?

ii) What is the most important action and why?

vii) While waiting for an echocardiogram you obtain the chest x-ray shown below.

Figure 2.3.

viii) With this information what is your diagnosis and action?

ix) Parents are anxiously waiting for further information. What are you going to tell them?

i) Give three indications for postnatal administration of BCG.

ii) Give three contraindications for postnatal administration of BCG.

i) How do you differentiate between an Erb and a Klumpke palsy?

ii) The parents want to know why it happened, how common it is, what treatments are available and what the long-term outcome is likely to be.

i) What does the X-ray show?

ii) What management is indicated and why?

i) What is the most likely cause, and what immediate action would you consider?

ii) Which of the following syndromes are associated with a facial palsy? Choose three.

iii) The palsy persists and appears unchanged at an outpatient appointment two weeks later. What course of action would you recommend?

iv) What syndrome is most likely?

v) What medication used in pregnancy is associated with this syndrome?

vi) What is the most likely long-term outcome if this diagnosis is correct?

i) Normal PT, Normal APPT, Normal Fibrinogen, Normal Platelets

ii) Prolonged PT, Normal APPT, Normal Fibrinogen, Normal Platelets

iii) Prolonged PT, Prolonged APPT, Low Fibrinogen, Low Platelets

iv) Normal PT, Normal APPT, Normal Fibrinogen, Low Platelets

v) Very prolonged PT, Moderately prolonged APPT, Normal Fibrinogen, Increased Platelets

vi) Very prolonged PT, Moderately prolonged APPT, Increased Fibrinogen, Normal Platelets

vii) Normal PT, Prolonged APPT, Decreased Fibrinogen, Normal Platelets

viii) Normal PT, Very prolonged APPT, Normal Fibrinogen, Normal Platelets.

i) What does this coagulation result show?

ii) What abnormal conditions may explain it?

iii) What other explanation is possible?

iv) How would you distinguish between the possible causes?

i) What are your first actions? List four.

vi) What actions would you consider?

x) What three actions would you consider?

xi) What further baseline investigations would you perform? Name six.

xii)

xiii) What treatment modalities would you consider?

xiv)

xv) Describe the trace.

xvi) What do you do now?

xvii) Following this treatment, the baby’s clinical condition seems to stabilise, but the CFAM at this point is below.

Figure 2.7.

xviii) What other complications may this baby sustain and how would you assess them?

xix) Explain the significance of these observations.

xx) What does this show?

xxi) What would be the main areas of discussion that you would have with the parents?

i) In the few minutes you have before delivery what specific areas of preparation will you concentrate on? List five.

ii) The infant is delivered and cries at birth. What immediate measure can be taken to minimise heat loss?

iii) What actions should you take to optimise ventilatory support immediately after birth?

i) Is this central or peripheral hypotonia?

ii) What could be the likely cause? Choose two.

iii) What is the most likely diagnosis?

iv) What test would confirm your diagnosis?

v) Which of the following endocrine problems is recognised as a characteristic finding in Prader–Willi Syndrome?

vi) What will you tell them?

vii) The parents then ask about available treatment. What do you tell them?

i)

ii)

iii) Continue effective ventilation and commence cardiac compressions. There is some debate as to whether cardiac compressions should be started immediately after inflation breaths or after 30 seconds of effective ventilation. Undoubtedly if there is no heart rate or profound bradycardia, then cardiac compressions should be started immediately after chest inflation has been obtained. However, if the infant is moderately bradycardic (60  bpm), it is reasonable to delay the commencement of compressions until a 30 second cycle of ventilation has been completed.

iv) Answer f is correct.

vii) Five abnormalities on the chest x-ray:

viii) 80.

i) Cataract is the most likely diagnosis to be picked up on day 1, although retinoblastoma and glaucoma do cause an absent red reflex. Cataracts occur in 2–3 per 10,000 live births. They are associated with congenital infection such as rubella, herpes simplex, toxoplasmosis and cytomegalovirus; syndromes, e.g. Lowes, Conradi’s and Hallermann–Streiff; familial (the majority are autosomal dominant although autosomal recessive and X-linked have been described); and metabolic, such as hypocalcaemia, galactosaemia. Retinoblastoma does result in an absent red reflex but it is rare (the incidence is 1 in 20,000 live births) and average age for diagnosis is 18 months. Congenital glaucoma is infrequent but is a preventable cause of blindness. It presents with a cloudy cornea and progressive globe enlargement. It is sometimes difficult to see the red reflex in a baby of African race, but it is not absent. The corneas of darkly pigmented eyes reflect more light and appear cloudier than light eyes.

ii) Absent red reflex requires an urgent referral to ophthalmology. The best results are obtained when surgery and specialised ophthalmological support are initiated early, before amblyopia has developed. This may occur within six weeks from birth.

i)

g. Duct dependent congenital heart disease.

iii)

vi) Congenital heart disease. All these parameters are within the normal range for a newborn baby within the first week of life. A relatively high white cell count is normal (10–26×10 ⁹/L) and a high normal neutrophil count (2.7–14.4×10 ⁹/L) is more reassuring than worrying. Babies with severe sepsis leading to collapse are more likely to be neutropenic than have a neutrophilia. Similarly, severe infection is likely to be associated with marked thrombocytopenia rather than a low normal platelet count (150–450×10 ⁹/L). If overwhelming sepsis is excluded, heart disease becomes the most likely diagnosis in a previously well baby.

vii)

viii)

ix) It will be necessary to discuss the abnormal anatomy and the fact that surgery is required. Parents are likely to want to know why the diagnosis has been missed despite an apparently normal baby check and antenatal scans. It will be necessary to explain the contribution of the normal ductus and the fact that, prior to closure, there would have been no abnormal signs. Although antenatal scanning may detect some babies with this condition, it may not be detected in a significant proportion even with a very skilled ultrasonographer. Providing the baby did not suffer prolonged acidosis during the collapse, it should be possible to maintain stability with the Prostin infusion and successfully transfer to a specialist centre. The management thereafter will be determined by the particular practice of the specialist centre and is probably beyond the scope of your discussion with the parents.

i) Current Health Protection Agency recommendations are that BCG should be given to:

ii)

a. Location.

b. Demarcation.

d. Clinical time course.

h. Time of presentation.

i) Brachial plexus injuries occur in 1 in 2300 live births (UK 1998 figure) although figures as high as 4/1000 have been reported in the literature, with 90% being Erb’s palsy (the most frequently affected regions C5, 6, less commonly also involving C7) and 10% Klumpke’s (involvement of C8, T1). Clinical presentation of Erb’s is typically the inability to abduct and externally rotate the shoulder, to flex the elbow and to supinate the forearm. When C7 is also involved neither the wrist nor fingers can be extended giving the classic Waiter’s Tip sign. Involvement of the lower roots in Klumpke’s palsy leads to involvement of the hand with a complete loss of grip, but preservation of movement elsewhere.

ii) In some cases it is thought that it is due to postural factors in utero although evidence for this is unclear. In most cases, it appears to be due to distraction at birth, i.e. pulling appears stretching leading to rupture, but this may be due to the birth process itself and does not have to be attributed to assistance. Risk factors are known to be shoulder dystocia (64% of cases), large birth weight, multiparity, assisted delivery, previous child with obstetric brachial palsy, prolonged labour and breech presentation. It is of interest to note that damage is most likely and prognosis worst in a small baby born by breech delivery, where C5/C6 avulsion occurs in approximately 80% of cases, and surgery is almost always required. Associated injuries are fractured clavicle (10%), fractured humerus (10%), subluxation of cervical spine (5%), spinal cord injury (5%), facial palsy (10–20%) and diaphragmatic palsy (5%).

i) The x-ray shows a linear skull fracture. Linear skull fractures are relatively common compared to depressed fractures and are usually in the parietal region. They commonly follow a forceps delivery or a prolonged, difficult labour. They have also been described following ventouse deliveries. Depressed fractures or ping-pong type fracture leads to an inward buckling of the bone where bone is depressed but not fractured. This injury is most commonly associated with forceps delivery and usually parietal bones are involved. ⁵

ii) Uncomplicated linear fractures usually do not require treatment and heal within several months without sequelae. They can be associated with extra- and intracranial complications including haemorrhage, although these are rare. Another complication is tearing of the dura and the development of a leptomeningeal cyst. The fracture line may widen rapidly within weeks and infants therefore need a repeat x-ray at a few months of age to detect early widening of the fracture line.

i) The most likely cause is birth trauma which accounts for approximately 80% of all cases. Forceps delivery is associated with approximately 75% of cases but it is of interest to note that in children with long-standing evidence of facial palsy there was no statistical association with the use of forceps and prenatal factors may be implicated. ⁶ Acutely, the only important aspect is to protect the exposed cornea and therefore artificial tears and patching may be indicated.

ii)

iii) Usually some recovery will be evident shortly after birth. In 90% of cases there is spontaneous recovery within four weeks of birth. ⁷ In infants with no evidence of resolution, referral to a surgeon with a specialised interest in this area is recommended. Surgical decompression is rarely needed but should be strongly considered if there is no recovery either on physical examination or electro-physiologically by five weeks of age.

iv) The combination of facial palsy with an abnormality of eye movement involving at least one cranial nerve is the minimum requirement for a diagnosis of Möbius syndrome. The sixth cranial nerve (abducent) is affected in approximately 75% cases. In approximately one-third of cases there may be defects affecting the lower limbs, facial structures and chest wall anomalies which are typical of Poland syndrome. It is for this reason that some reports suggest an association with facial nerve palsy and Poland syndrome. Experts in the field believe that these cases are Möbius syndrome variants.

v) An association between the use of misoprostol as an abortifacient has been reported to be associated with a 30-fold increase in the incidence of Möbius syndrome.

vi) During infancy, failure to thrive due to feeding problems and aspiration is not uncommon. Approximately 30% patients have mental retardation, which is commonly severe. Approximately one-quarter develop severe autistic symptoms. Speech impairment is very common.

i) Normal.

iii) Compatible with disseminated intravascular coagulation with consumption of clotting factors and platelets.

iv) Thrombocytopenia – allo- or iso-immune with no other derangement of clotting.

vii) Need repeat sample – results do not match with clinical possibilities.

viii) Inherited deficiency of factor VIII, IX, XI, XII. Also consider heparin contamination.

i) The APPT is prolonged. PT is at the upper end of normal for a term infant immediately after birth. Fibrinogen is normal and platelets at the upper end of the normal range.

ii) This result could be explained by an inherited deficiency of factor VIII, IX, XI or XII. These conditions classically result in prolongation of APPT without affecting other parameters.

iii) If this coagulation screen had been performed on a sample taken through the arterial line the possibility of heparin contamination must be considered. This also may lead to prolongation of the APPT without affecting other clotting parameters.

iv) This could be differentiated from an inherited factor deficiency by use of the reptilase test. The reptilase time will be normal when the abnormality is due to heparin contamination but abnormal with inherited factor deficiencies. Assuming that heparin contamination could be discounted as a cause, further tests should be directed at differentiation between the different factor deficiencies. This will normally involve measurement of different factor levels but interpretation may be difficult in the newborn period and expert advice should be sought at the outset.

i)

ii)

iii) Prepare to administer drugs, continue ventilation and cardiac compression, make sure help is available or on its way.

iv) Send blood for pH and blood gases, haemoglobin and blood glucose.

v)

vi)

vii)

viii)

ix)

x)

xii)

xiii)

xiv)

i)

ii)

iii)

i) Central. It is important to distinguish between central and peripheral hypotonia. Central hypotonia is caused by a problem above the lower motor neurone. The floppiness is much more severe than the weakness, and sometimes, despite being very floppy, infants can show strong movements on stimulation. Tendon reflexes are usually preserved and there is no fasciculation which is seen in peripheral hypotonia.

ii)

iii) Prader–Willi syndrome. Babies with PWS have bitemporal narrowing and ‘almond shaped’ palpebral fissures (although this may become more evident postnatally as opposed to at birth). The hair and the skin can be lightly pigmented compared to the rest of the family. The genitalia are usually hypoplastic. Boys have cryptorchidism, and girls have small labia minora and clitoris.

iv) Chromosomal analysis should be requested looking specifically at the proximal long arm of chromosome 15 (15q11-q13). The majority of cases (about 75%) are caused by a deletion of the paternal copy of the appropriate region of chromosome 15 which can be picked up by fluorescence in situ hybridisation. Approximately 20% of cases are due to uniparental disomy, which occurs when both copies of the chromosomal region are inherited from a single parent, in this case the mother. These cases have a normal FISH study but an abnormal DNA methylation test. Uniparental disomy occurs sporadically, making the recurrence risk extremely low. A small minority of people have a translocation or imprinting irregularity involving chromosome 15. The recurrence risk is less than 1%.

v) Infants with PWS have hypothalamic hypopituitarism which leads to hypogonadism and growth hormone deficiency. The growth hormone deficiency leads to short stature and low muscle bulk. Other associated problems in later life are scoliosis, strabismus and osteoporosis.

vi) Infants with PWS have delayed milestones. The average age for walking alone is about 2 years although there is wide variation in this time. Hearing is normal but strabismus is common. Problems with speech, particularly articulation problems, are widely reported. Parents with babies with PWS describe them as being very quiet and placid babies. They sleep well and the main problems in the early postnatal period tend to be with feeding and weight gain, which persist up to 6 months or longer. Most children with PWS have borderline or moderate learning difficulties. The average IQ is about 70, although affected individuals may find it hard to perform at their IQ level, as emotional and social skills may be less well developed than in their peers. Writing and reading are usually considerably better than number skills and abstract thinking.

vii) In the early neonatal period, feeding and growth must be addressed. Many babies will need tube feeding with high calorie milks. The babies seem to tolerate nasogastric tubes and it is best to avoid gastrostomies as they can lead to significant areas of lipo-atrophy (predominantly abdominal) in later life. The most publicised complication of PWS is obesity. Between 2 and 6 years of age, children develop a hyperphagic phase which appears to be related to a hypothalamic problem affecting the satiety pathway. There has been much research into the specific defect, looking at neuropeptide Y, pro-opiomelanocortin, leptin and ghrelin. The hyperphagia is thought to be due to the decreased ability to feel satiated when the stomach is full. There have been many trials of treatment including appetite suppressant medication, surgery to decrease the gastric volume and behavioural therapy to decrease the feeding issues. Childhood obesity carries significant risk of morbidity including diabetes, heart failure and sleep apnoea. Dietary management is crucial during early childhood with dietetic input and mealtime routines. Growth hormone deficiency affects all individuals with PWS. Growth hormone is being used to improve linear growth and also improves amount of lean muscle mass compared to fat. Evidence shows that early treatment with growth hormone in the first year leads to improved growth and improved motor development. It has also been shown that facial and body appearance can normalise. Selective serotonin reuptake inhibitors can be helpful if the child shows obsessive–compulsive traits that are commonly seen along with other behavioural disorders.