Case study
The mother of a five-year old child called the surgery at 5pm with concerns about her daughter's one-day history of abdominal discomfort, requesting a same day review.
The girl had managed to spend the day in school but seemed to have worsened since coming home and had been sick once or twice. There was no apparent fever, diarrhoea, rash, pain elsewhere, photophobia or altered behaviour, or dysuria, and some simple painkillers had made very little difference.
No other family member was currently unwell with any gastrointestinal conditions and there were no travels abroad recently, and no obvious unusual food intake (such as a take-away or eating out) in the last three days.
The mother was aware that the child would need to be seen as an extra at the end of surgery, but preferred this over telephone advice or a possible review at the out-of-hours service later in the evening, if the symptoms were to persist or worsen.
There was little medical history - the child was born at term, developed well, was up to date with all vaccinations, had had chickenpox and a few reviews for minor illnesses. She had a mild head injury six months before, with no further consequences. There was no current medication or allergy history.
The mother and the girl had to wait about 40 minutes in the waiting area before they could come in. The child was apparently sick once more during this time but, once seen, looked well, smiled and did not appear clinically dehydrated or in distress. She was apyrexial, the abdomen felt soft and did not reveal any specific tenderness, guarding or rebound, and the bowel sounds were normal.
It was only at this point the mother mentioned her worry about possible diabetes. The girl's seven-year-old cousin, who had recently been diagnosed with diabetes, had been unusually thirsty, and the mother also observed this in her own child in the past few days.
A urine sample then shows glucose +++ but no ketones or any signs for a possible infection. The child was immediately admitted for further management.
Discussion
It could have been tempting to defer this presentation as simple, common, minor illness, but the persistence of the mother revealed the serious underlying problem. However, if she had declared her concern more clearly and promptly on the phone, the priority to review would have been different, and asking for a urine sample before arrival could have been useful.
The diagnosis
Type 1 diabetes is one of the most common chronic diseases in childhood and caused by insulin deficiency. It affects currently probably more than 350,000 patients in the UK (around 5-12% of all diabetes cases).
The majority of children appear to develop it under 12 years of age, but it may start in adults as well. The precise reason for the likely autoimmune triggered condition is still in parts unclear, but, observational studies suggest possible associations to infections (rubella, coxsackie virus) and early exposure to cow's milk protein.
Interestingly, the genetic likelihood of developing type 1 diabetes, as examined in studies in twins and families, is much lower (30-50%) than for type 2 diabetes (80%), which further supports environmental factors.
Most of the time type 1 diabetes results from a slowly progressive destruction of pancreatic beta-cells over weeks, months or even several years, and becomes symptomatic only when about 90% of cells have been damaged – from that point onwards symptoms and severe illness may develop fairly suddenly.
This moment of "tipping-over" may culminate, in about 30% of cases, in a presentation of DKA (diabetic ketoacidosis) with a mortality rate of around 5%, provided appropriate facilities for prompt diagnosis and treatment are available.
Presentation
Even though some children may still look surprisingly well for the initial period, due to the polyuria (and likely noctural enuresis) caused by hyperglycaemia, they can be significantly dehydrated by several litres at this point.
Systemic rehydration, however, should be done gradually and carefully to prevent possible complications, such as cerebral or pulmonary oedema.
Abdominal pain and nausea are common in DKA due to the increasing metabolic acidosis, but could, in the early stages, be mistaken as symptoms of gastroenteritis.
Apart from the classic triad of polydipsia, polyuria and weight loss (despite polyphagia), other symptoms of new-onset type 1 diabetes can less specific, such as nausea or fatigue, and there are published case reports of other atypical first presentations, including hemiparesis, severe partial seizures, hemiballismus, pretibial numbness or intractable hiccups.
The diagnosis of type 1 diabetes in children can become obvious by a positive dipstick test – although some sticks may not show glucose reliably in the presence of significant ketones.
If a finger-prick test for capillary blood seems too invasive and painful in a child, the heel may be an easier place to test from. Obviously, all newly-diagnosed cases of type 1 diabetes require immediate specialist management and the start of insulin replacement therapy.
- Dr Jacobi is a GP in York
