100: POOR WEIGHT GAIN
History
Charlie is a 14-month-old boy who is referred by his GP to the paediatric day unit because of diarrhoea and weight loss. He has had numerous previous admissions. Charlie was born at 32 weeks after a pregnancy complicated by recurrent bleeding. He needed headbox oxygen for 5 days. By discharge home at 6 weeks, he was bottle-fed and his weight was on the 25th centile. Over the next 2 months he had several admissions with possible apnoeas, but investigations including an EEG and brain MRI were normal and none were witnessed during observation on the ward. At 4 months he had two episodes of haematemesis confirmed on inspection of the towels his mother brought with her and had a normal full blood count, clotting screen and barium meal. His weight by then had dropped to the 2nd centile and it has not been above it since, and has occasionally fallen to below the 0.4th centile. He has persistent, frequent, loose stools often containing visible blood. A diagnosis of cow’s milk protein intolerance was made, but a dairy-free diet made no difference. He is now on a hydrolysated (pre-digested) formula. Solids were introduced at 5 months. During his admissions the nurses have fed him and report that he is always hungry and takes good amounts, but there has been no significant weight gain. Charlie has had extensive normal investigations, including an abdominal ultrasound, small bowel biopsy and a colonoscopy, when no blood was seen. There are no concerns about his development. His 4-year-old brother was also investigated for poor weight gain. With the permission of the parents, reports have been obtained from the tertiary centre to which the 4-year-old was referred – he, too, had exhaustive tests but no diagnosis was ever made. His growth chart shows a rapid improvement in weight gain from about 2 years. Charlie’s mother is a pharmacy technician and his father is a lorry driver. The staff know them well and his mother is always happy to stay.
Examination
Charlie looks skinny. He has redundant skin folds over his thighs and buttocks. His weight is just below the 0.4th centile, and his length and head circumference are on the 50th centiles. He is not clubbed and not clinically anaemic. His pulse is 180 beats/min. Examination is otherwise unremarkable.
Questions
• What is the most likely diagnosis?
• What could be the mechanisms contributing to Charlie’s history and current clinical state?
• What should happen next?
Medicine
Charlie has had several unexplained episodes of potentially serious illness and now has evidence of ongoing faltering weight gain with blood in his stools but not at colonoscopy. Exhaustive investigations are normal. This is on the background of being born preterm after a complicated pregnancy and having an older brother who had a similar pattern of illness in the first 2 years of life. This is all highly consistent with a diagnosis of fabricated or induced illness (FII), an uncommon and difficult to diagnose form of child abuse. The perpetrator may:
• fabricate a medical history
• cause symptoms by repeatedly exposing the child to a toxin, medication, infectious agent or physical trauma, including smothering
• alter laboratory samples or temperature measurements. The mother is almost always responsible and a significant percentage have connections with the health services. Sadly the disturbed parent seems to obtain a perverse satisfaction from the close association with hospital care and staff. The possible mechanisms in this case include the blood in the vomit and stools being his mother’s, possibly even her menstrual blood. Specimens can be analysed for ‘foreign’ blood. The vaginal bleeding during pregnancy may have been self-induced. The apnoeas could have many explanations and covert surveillance by the police may be needed if episodes are ongoing and smothering is a possibility. Faltering weight gain means that energy expenditure exceeds energy intake. Possibilities include diluting his feeds, throwing feeds away or poisoning with laxatives or an agent that increases metabolic rate such as thyroxine – to which this mother, as a pharmacy technician, would have access. This possibility is supported by his tachycardia. Thyrotoxicosis is extraordinarily rare in this age group and thyroid function tests may be normal if doses are not given every day. Some mothers become highly sophisticated at FII – and this mother may have had prior experience with her older boy. A phone call to the GP may reveal a history of abuse during the mother’s childhood or prior mental health problems, but these do not mean that this is FII. It is all supportive, not diagnostic, evidence. However, it is crucial to make the diagnosis because this disorder can be very dam aging to the child, not just from the impact of the unnecessary and invasive investigations but because of long-term behavioural and other problems. Other children may also be at risk. The case must be referred to Social Care, who have a statutory duty to undertake a thorough investigation according to strict guidelines. The child protection register should be checked and the health visitor should be contacted for further information. At the same time, it is worth obtaining a second opinion from another consultant paediatrician.
KEY POINTS
• Fabricated and induced illness should be considered in any child with recurrent unexplained symptoms, but it may be difficult to diagnose.
• All potential cases of fabricated and induced illness must be referred to Social Care.
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