Case 8 An infant with a large head

Jose, a 17-month-old boy, is referred by the GP to the paediatric clinic where he is seen by the registrar. Jose’s parents have been concerned for 2 months that there may be something wrong with his eyes. They are also worried because he is not walking yet, though he is pulling to stand. His head is noted to be big, on the 98th centile. The anterior fontanelle is almost closed. His weight is on the 25th centile. Jose’s length cannot be measured as he will not lie still. Examination is difficult as he is uncooperative. The registrar is unsure if there is a squint as Jose will not keep his head still. The rest of the examination is normal and Jose seems generally well.

What would you do?

The registrar feels that Jose will walk imminently. He arranges a follow-up appointment for 3 months time and reassures Jose’s parents that things should improve.

Jose is reviewed at 20 months of age. He is still not walking and can only say three words. He seems to have difficulty looking upwards. Jose’s head circumference is now well above the 99th centile. Inspection of the parent-held record reveals that Jose’s head circumference tracked along the 50th centile from birth until 14 months of age.

What would you do now?

The registrar is concerned about the enlarging head circumference, the developmental delay and the eye signs and arranges a MRI scan for the following week. Jose’s parents are advised that their son will need sedation to remain still for the scan.

They attend the day unit on the morning of the scan. Unfortunately, due to a misunderstanding about the length of fasting for sedation and because Jose cannot be successfully sedated, he misses his time slot. The scan is therefore rescheduled for 3 weeks time, on which occasion it is successfully performed.

Two weeks after the scan, a copy of the report reaches the in-tray of the consultant paediatrician. The MRI shows obstructive hydrocephalus, with enlargement of the lateral and third ventricles, which appears to be due to a mass in the pineal gland.

The family are called in to the hospital to be informed of the result. Jose’s mother attends alone. The consultant explains that Jose may have a brain tumour and needs an urgent referral to a neurosurgical centre for further assessment. The mother states that after 5 years of marriage she is now separated from her husband and that she does not want her husband to be told about their son’s condition.

How would you respond to the mother’s wishes?

The consultant successfully persuades Jose’s mother that the information should be shared with his father.

Jose undergoes neurosurgery where a third ventriculostomy is performed and a biopsy is taken. Histology reveals that this is a benign pineal tumour. Two further operations are required to remove residual tumour. Jose remains under follow-up by the neurosurgeons and is also seen by the community paediatricians because of his developmental delay. He has significant visual impairment, which may be permanent, due to direct tumour compression of the midbrain.

Jose’s parents complain, stating that had the diagnosis been made earlier then Jose would have required fewer operations and would have developed better with less visual impairment.

Expert opinion

The signs of a brain tumour can be particularly difficult to detect in infants. A persistent visual abnormality (lasting more than 2 weeks) should be further investigated. A young and uncooperative child can be difficult to assess. In this case Jose’s parents had been concerned about a visual abnormality for 2 months. The registrar should have sought the opinion of his consultant or should have obtained an opinion from an ophthalmologist.

Single isolated growth measurements can be difficult to interpret. Measurements should be compared with previous records. If the registrar had checked the parent-held child health record for these he would have realized earlier that the head circumference had increased markedly (and was out of proportion to the weight) and this would have prompted further investigation at an earlier stage, looking for a brain tumour or hydrocephalus. At 18 months of age, a child should be walking. Many children who don’t walk at 18 months will walk within a couple of months and be normal. However, not walking at 18 months merits investigation and the registrar should have considered reviewing Jose sooner.

Clear communication is extremely important but unfortunately poor communication led to Jose not being fasted properly and to a 3 week delay in the scan. Whenever an investigation is ordered, it should be ensured that the result is followed up in a timely manner. This very abnormal result should have been communicated on the day of reporting by the radiologist to the paediatric team. The reporting and communication of results within the hospital was suboptimal and led to further delays.

Pineal tumours are rare in children but commonly present with visual disturbances. The classical finding in pineal tumours is Perinaud’s syndrome where there is loss of upward gaze in combination with pupils that are dilated and nonreactive to light.

Legal comment

A succession of mistakes by the hospital staff may have led to a delay of more than 4 months in Jose being seen by a neurosurgeon.

When Jose first presented, would an ordinary, competent paediatric registrar have sought a second opinion? If so, what would that second opinion have probably recommended? If there was a mistake at this point, it has led to a 3-month delay.

Even if (which is doubtful) an argument can be made in defence of the registrar’s decision to follow up in 3 months, Jose’s parents will probably allege that the hospital failed to inform the mother of the need for fasting before the MRI scan. This led to a further 3-week delay. Maybe most of the damage occurred during these 3 weeks.

The hospital will then have to investigate who told what to Jose’s mother. Was the advice given in writing? Or is it a case of one person’s word against another? If it can be shown that in fact the mother was given clear advice, then the hospital could argue that it was the mother’s own negligence that led to this (perhaps crucial) delay.

But, it would be argued, why did it take 3 weeks in this urgent case to get another MRI slot? Should the case not have been given a higher priority?

The following 2 weeks delay, while the radiologist’s report got to the consultant paediatrician, appears particularly indefensible. Maybe it was during this period that the tumour inflicted most of the damage.

The hospital may have difficulty in defending this case, unless they can show that the damage was done before Jose first presented and, therefore, that earlier treatment would not have altered the outcome. An expert in causation would cast light on this question.