A patient that changed my practice: Mother knows best

I have lost count of the number of times my teachers taught that in paediatrics “Mother is always right.”

As a casualty officer I decided to do locum work. The first card I picked up was that of a 4 month old boy who had had “one week history of cough, crying all the time.” Squeezed in at the end of the summary was, “Mother concerned about development.” She told me that she had three other children. “I know that there is something wrong here. It's more than just that he's small and will catch up later,” she added.

The boy had been born after a complication free pre-, intra-, and postpartum pregnancy and was “having regular check ups” as the mother had done a circuit of all the near and not so near accident and emergency departments. The child was asleep, had a temperature of 37.7°C, was normotensive, and did not have a tachycardia.

Respiratory, cardiovascular, abdominal, otolaryngeal, and neurological examinations were all normal, apart from a macular, blanching non-pruritic rash on his trunk. I explained that the rash was connected to the cough, would go when the cough went, and that that was why he was a little floppy. The mother insisted that none of her other three children had ever been as floppy even when asleep or ill.

It was at that stage that another of my teachers' pronouncements came at me like a bolt of lightening: “If you don't remember anything else always remember to ….” I went up to the sister and asked for “one of those graphs that paediatricians use to plot weight and head circumference.” If you bear in mind that I was a locum seeing my first patient you can imagine the look I got from the regular doctors. Eventually a pristine pack of the charts was found. The child's weight was just below the second centile, but the head circumference was below the third centile. I measured and replotted; the mother twigged. “I knew his head should be bigger” and then she said, “My other son has this skin condition that they had to get a really old retired professor to sort out. When he said that this was only the second time he had ever seen this condition in 70 years I was really worried.”

That was when the penny dropped. Tactfully worded questions revealed that the mother had married her first cousin. The patient and his brother were, therefore, likely to have a sex linked chromosomal abnormality and the fact that her two daughters “were spared” was scientifically explicable as well as “by God's grace.”

This lady changed my practice in that now I always weigh infants and measure their skull circumference just as my teachers told me to do. For the curious the dermatological condition was lipid proteinosis.