Difficult Cases in Primary Care

Paediatrics

Samar Razaq

• Editorial: CRC Press
• Año: 2021
• ISBN:
  9781909368422
• Edición: 1
• Categoría: Medizin
• Categoría: Medizinische Theorie, Praxis & Referenz

In many paediatric cases the definitive diagnosis may not be made in the primary care setting, but this is where suspicions are often raised. General Practitioners are, therefore, required to maintain a breadth of knowledge covering the specialty. This invaluable guide outlines a case scenario followed by a highly detailed explanation of the condition and its management, presenting the symptoms in a way that are likely to be encountered in general practice.

CASE 1
Febrile seizures

You see 15-month-old John in clinic with a 24-hour history of fever, runny nose and tugging at the right ear. On examination, the child appears well and is afebrile. You note that the right tympanic membrane is bulging, with an inflamed appearance. You make a diagnosis of otitis media and send mum home with a prescription of amoxicillin. Two days later mum, who is an orthopaedic nurse, returns with discharge papers from the paediatric ward. Later at night after you saw him, John developed a very high temperature of 39°C. As he lay in his cot, he suddenly started jerking. Mum says he appeared to go very stiff and he became unresponsive, with his eyes rolled upwards. Thinking that he was dying, mum dialled for the ambulance. By the time the ambulance crew arrived, the jerking had settled. John, however, remained semi-conscious and it was not until an hour later in the emergency department that he was completely back to normal. The paediatric discharge notes inform you that a lumbar puncture was performed. It, along with blood results, was normal. The final diagnosis was that of a simple febrile seizure (FS). Mum would like John to be referred for an electroencephalogram (EEG). She also enquires about prophylactic diazepam to stop seizures from occurring in the future.

Which of the following statements is/are true?

1. A lumbar puncture is always indicated when a child presents with a FS.
2. It is good practice to perform blood tests to get an idea regarding the severity of the infection.
3. An EEG should have been carried out during the admission, as it is a most sensitive test when carried out within 24 hours of the seizure.
4. Long-term outcome after a FS is excellent in terms of intellectual capability and behaviour.
5. There is strong and convincing evidence that FSs cause damage to the hippocampus, resulting in an increased risk of developing temporal lobe epilepsy.

Answer: d

FSs are a commonly encountered paediatric problem occurring in 2%–5% of all children. There are slight variations in how a FS may be defined; however, it is commonly described as a seizure associated with fever in the absence of underlying intracranial infection or any other recognised cause of seizure activity such as trauma, epilepsy or electrolyte imbalance. FSs are more common in children between the ages of 6 months and 3 years, with a peak incidence at the age of 18 months. Onset after the age of 6 is uncommon. A fever of greater that 38°C is usually quoted as being required to make the diagnosis of a FS. Despite this, the fever may not be the cause of the FS. This is backed by studies showing that the use of antipyretics is not effective in preventing the recurrence of FSs. A randomised, double-blind, placebo-controlled trial performed by van Stuijvenberg and colleagues (1998) randomised 230 children between the ages of 1 and 4 to receive either ibuprofen or placebo regularly during a febrile episode until adequate temperature control had been achieved. These children had had a FS in the past and were deemed at high risk of having a recurrence. Analysis at the end of the study did not show any difference in the risk of recurrent FSs. Other studies have yielded similar results with paracetamol. It is possible that endogenous proteins such as interleukin 1, released during a pyretic episode, increase neuronal excitability and lower the seizure threshold, thus linking the fever with the seizure. The exact mechanism, however, remains elusive.

The strongest risk factor for having a FS is a history of FSs in a first-degree relative. For most children this will be a solitary event; however, a FS will recur in approximately a third of children. They are at the highest risk within the first year of the initial event. FSs may be classified as simple and complex. Simple seizures, which make up the large majority of FSs, are short in duration (lasting shorter than 10 minutes), have generalised tonic–clonic seizure activity, resolve spontaneously and do not recur within 24 hours. Seizures are classified as complex if they last for longer than 15 minutes, have focal seizure activity or reoccur within 24 hours. Febrile status epilepticus is a form of complex FS in which the seizure lasts for more than 30 minutes. The differentiation is important, as a complex FS is associated with an increased risk of developing epilepsy when compared with a simple FS (if all three features are present, the risk of developing epilepsy is approximately 50%). Other factors increasing the risk of developing epilepsy include a family history of epilepsy and neurological abnormalities. Interestingly, fever duration of less than 1 hour prior to seizure onset is also associated with an increased risk of developing epilepsy later in life. In contrast, a simple FS with none of the aforementioned factors is associated with a 2.4% risk of developing epilepsy (a modest rise above the 1.4% risk for the background population). Parents should be reassured that long-term prognosis in terms of intellect, academic achievement, memory and behaviour is good.

The first step in the management is to confirm the diagnosis. As is the case in the scenario given earlier, it is not uncommon for seizure activity to have terminated by the time the child reaches the emergency department. As with all cases, a good history is vital. Alternative diagnoses, including rigors, syncope, reflex anoxic seizures, febrile delirium and breath-holding attacks, should be considered. The age of the child and degree of illness will further determine how the child is managed, once the diagnosis of a FS is made. The first step would be to determine the source of infection. If this can be accurately determined, further investigations may not be indicated. Examination of the ear, throat, chest and nervous system is mandatory. A urine dip should be performed to rule out a urinary tract infection. A FS is not an indication for routine blood tests and they should only be performed if a specific indication exists. A decision needs to be made whether a lumbar puncture is indicated and this will be determined by the suspected source of infection. If meningitis or encephalitis is suspected, a lumbar puncture should be performed unless contraindicated. In the older child (above 2 years of age), the clinical diagnosis of meningeal irritation may be easier to make. In the absence of suggestive signs (such as neck stiffness, photo-phobia), with a clear alternative source of infection, a lumbar puncture, therefore, would not be necessary. However, in the younger child – particularly, a child younger than 1 year of age – the diagnosis may be difficult on clinical grounds because of the subtlety with which the child may present. Poor feeding, irritability and lethargy may be signs of meningitis and in such a scenario a lumbar puncture should be strongly considered. There is no evidence that EEG, done at the time of presentation or up to a month later, has any prognostic or diagnostic benefit. This is the case for simple and complex FSs, and it should therefore not be routinely performed. A FS may herald the onset of an epileptic disorder, such as Dravet’s syndrome, in which case an EEG will be performed. However, the suspicion of such syndromes is raised after a single or multiple FS. In the absence of abnormal neurological findings, there is no need for neuroimaging for either simple or complex FSs. In the presence of neurological abnormalities, non-urgent magnetic resonance imaging should be organised.

Immediate management to terminate the seizure is indicated if the seizure is prolonged. Treatment should be given if the seizure lasts longer than 5 minutes. Rectal diazepam or buccal midazolam at a dose of 0.5 mg/kg is effective at terminating seizures. Midazolam may also be given intranasally. They are the drugs of choice in the primary care setting because of the likelihood of not having intravenous access. In a study comparing the two benzodiazepines in children aged 6 months and older attending hospital, buccal midazolam was found to be more effective than rectal diazepam in terminating the seizure within 10 minutes for at least an hour (McIntyre, et al., 2005). If the seizure is not terminated within 10 minutes of delivery of the drug or the seizure recurs, then an ambulance should be called to organise hospital admission. Long-term management is centred on parent reassurance and explanation of the condition.

The mother in this case enquires about prophylaxis. As discussed earlier, evidence in favour of regular antipyretic prescribing to prevent the recurrence of a FS is lacking. Nevertheless, antipyretics should be used to make the child more comfortable. Long-term anticonvulsant treatment has been used in the past but is no longer recommended, because of the lack of evidence of its effectiveness in reducing the risk of a recurrence or reducing the risk of epilepsy. Coupled with an unfavourable side effect profile, it is not usually difficult to convince parents against the use of regular anti-epileptic medication. Since the use of regular preventive medication has fallen out of use, intermittent use of preventive benzodiazepines has gained some favour. Studies have shown intermittent use of diazepam, during a febrile episode, to be effective in preventing a recurrence of FS. Side effects found to be associated with diazepam use in such a manner included lethargy, irritability and ataxia, with up to a third of children affected in one study. A discussion with the parent should revolve around whether preventing a recurrence is necessary or not. Risk factors for an increased risk of recurrence include first FS below the age of 18 months, history of FSs in a first-degree relative, shorter duration of fever (<1 hour) prior to seizure onset, seizure occurring at relatively lower temperature (35% within 1 year with a recorded temperature of 38.3°C, reducing to 13% with a temperature of 40.6°C or higher) and multiple seizures occurring in the same febrile episode. In the absence of these features, parents may wish not to embark on benzodiazepine prophylaxis.

Examination practice: funny turns

Options for questions 1–3:

1. West’s syndrome
2. breath-holding attacks
3. Sandifer’s syndrome
4. absence seizures
5. benign rolandic epilepsy
6. Angelman’s syndrome
7. pavor nocturnus
8. panic attacks.

Questions 1–3 are about children presenting with a ‘funny turn’. From the list of options provided, choose the most appropriate diagnosis that fits the clinical presentation. Each option may be used once, more than once or not at all.

1. A 5-year-old girl is seen in the epilepsy clinic. She is noted to have coarse features. Mum tells you that she has sudden outbursts of unprovoked laughter and is fascinated by running water.
2. An 8-year-old boy presents with tingling in his mouth, lips and gums on waking in the morning. On a few occasions dad has noticed his speech to be unclear.
3. A 2-year-old boy passes out after he is told off. Mum says that he was crying and became red in the face prior to passing out. She does not report any abnormal jerking and he regained consciousness within a minute.
4. Which of the following statements regarding retinoblastoma are true?
   1. Retinoblastoma is the commonest primary ocular tumour in children.
   2. Retinoblastoma is a life-threatening condition, with an approximately 50% mortality rate in the first year in the UK.
   3. The diagnosis of retinoblastoma is delayed in most cases.
   4. A new-onset strabismus may be a sign of a retinoblastoma.
   5. Children with an inherited form of retinoblastoma are at an increased risk of developing non-ocular cancers later in life.
5. Which of the following signs is usually positive in Marfan’s syndrome?
   1. Steinberg’s sign
   2. Gower’s sign
   3. Rovsing’s sign
   4. Scarf sign
   5. Murphy’s sign

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