Case 2 A fitting infant

Alesha had multiple reviews by the midwife and GP because of repeated episodes of crying and irritability. She fed poorly initially but this had improved. She is the first child of her mother, Sharon, who seems to be at the end of her tether. Sharon is well, not on any medication and does not abuse drugs. The GP, Dr Robson, cannot find any abnormal signs examining the infant and he and the midwife ascribe the problem to ‘an over anxious first time mum’.

At the age of 3 months whilst on the way home from visiting grandma, Alesha has a fit and an ambulance is called. She is still fitting on arrival at the hospital. The oxygen saturation is 84% but normalizes following the administration of oxygen. Breathing and circulation are stable. Buccal midazolam, iv lorazepam, rectal paraldehyde and iv phenytoin are required to stop the fit which lasts for a total of 1 hour and 5 minutes. Intravenous ceftraixone is also administered though Alesha’s temperature is only 37.1°C. There is no rash, the anterior fontanelle is flat and there is no obvious neck stiffness. A FBC, CRP, U and E’s, bone chemistry and LFTs are normal. A blood culture is performed and a urine dipstick is normal. A cranial CT scan is also normal. A provisional diagnosis of epilepsy is made.

What is your opinion of the emergency management?

Alesha continues to have fits overnight which require additional iv lorazepam and rectal paraldehyde. She has 6 fits in total lasting between 5 and 20 minutes. Alesha remains apyrexial but is noted to be irritable.

On the following morning on the consultant ward round it is noted that the blood glucose has never been measured. A bedside reading is immediately done and the blood glucose is found to be 1.3 mmol/L (this is confirmed by the laboratory measurement which is 1.1 mmol/L). A more detailed history reveals that the irritability and fits usually preceded a feed. Detailed endocrinological and metabolic blood and urine tests are done during an episode of hypoglycaemia. Alesha goes on to have pre-feed blood glucose readings which range between 1.5 and 3.6 mmol/L. Higher volume feeds are given 3 hourly, rather than 4 hourly, with nasogastric top ups and the pre-feed glucose levels rise to ≥ 2.6 mmol/L and the fits stop.

What is the likeliest diagnosis?

The insulin level is found to be inappropriately high at a time when the blood glucose was low and a diagnosis of persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI) is made. An EEG shows minor abnormalities only and a MRI is normal.

Alesha is referred to a tertiary unit and a number of drugs such as diazoxide and octreotide are tried. However, these fail to abolish the hypoglycaemia and a 95% pancreatectomy is performed. Alesha remains hypoglycaemic and requires a further operation where a further 4% of her pancreas is removed.

What long-term sequelae are likely to develop following surgery?

Subsequently, Alesha has normal blood glucose levels but goes on to develop type 1 diabetes and malabsorption requiring pancreatic supplements.

At 5 years of age she is diagnosed as having moderate learning difficulties and her mother Sharon sues Dr Robson and the hospital because of the delay in the diagnosis which she feels has led to the learning difficulties.

Expert opinion

Sharon had repeated visits to her midwife and GP, Dr Robson, and regrettably her concerns were not taken sufficiently seriously. Neither Dr Robson, the midwife nor the junior medical staff took a sufficiently detailed history to establish the link between feeding and the excessive crying, irritability and fits.

Measuring the blood glucose in a fitting child should be standard practice. After basic resuscitation relating to the airway, breathing and circulation (ABC) the mnemonic DEFG is often used which stands for Don’t Ever Forget Glucose. There is little point in performing sophisticated tests such as a CT scan, yet not doing a very basic bedside test which takes 30 seconds such as a blood glucose measurement.

PHHI is the commonest cause of hypoglycaemia in infancy. It is associated in some studies with learning difficulties and nonhypoglycaemic fits which are often attributed to brain damage from early hypoglycaemic events and seizures, and these may have led to Alesha’s learning difficulties. However, other studies have shown normal development. There is also some data to suggest that infants diagnosed and treated early have a better neuro-developmental outcome. There are no comprehensive long-term studies of neuro-developmental outcomes in patients with PHHI.

Legal comment

The Expert Opinion above criticizes the actions of the hospital. An expert is likely to conclude that the blood glucose should have been tested earlier. However, it is by no means clear that earlier intervention would have made much difference to the outcome. The lawyer will ask his instructed causation expert to comment on whether, on the balance of probabilities, earlier treatment would have:

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