<h4>Background</h4>Thiamine deficiency is a rare but life-threatening complication for which children on long term parenteral nutrition (PN) are at higher risk.<h4>Case report</h4>We describe a 13-year-old male with intestinal failure secondary to Filamin A mutation who presented with one-week of oedema and orthopnoea. The gene discussed is FLNA; the disease is Thiamine deficiency.