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Eight-month-old girl with feeding difficulties and an enlarged liver
  1. Donnchadh Martin O’Sullivan1,
  2. Barry Linnane1,
  3. Joanne Hughes2,
  4. Anne-Marie Murphy1
  1. 1 Department of Paediatrics, University Hospital Limerick, Dooradoyle, Ireland
  2. 2 National Centre for Inherited Metabolic Disorders, Children’s University Hospital, Dublin, Ireland
  1. Correspondence to Dr Donnchadh Martin O’Sullivan, Paediatrics, University Hospital Limerick, Dooradoyle, Limerick V94 F858, Ireland; dosullivan373{at}gmail.com

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Case report

An 8-month-old girl presented with difficulty weaning onto solids and a history of poor feeding.

She was born at term by normal vaginal delivery and she was achieving developmental milestones. She had several changes to her milk formula in the first 6–8 months of life due to vomiting and poor feeding. She presented at 8 months with a failure to wean onto solids. Despite this she was thriving with weight 9 kg, length 71 cm and head circumference 44.5 cm (all of which were between the 75th and 91st percentiles on Royal College of Paediatrics and Child Health UK growth charts for girls aged 0–4 years).

Abdominal examination revealed a very large liver extending a full hand’s breadth …

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