Previously healthy 2 year old presented with meningococcal sepsis. He developed septicaemia and shock requiring full picu support; he improved after 5 days. Group-B meningococcal disease was confirmed on PCR. He then deteriorated acutely developing multiple organ failure including renal and hepatic failure. He had persistent thrombocytopenia, coagulopathy and bleeding episodes. It became evident following his deterioration after initially overcoming meningococcal sepsis that an underlying pathology was playing major role. Numerous possible diagnoses, numerous teams were involved and investigations performed. Possible Haemophagocytic lymphohistiocytosis (HLH) was considered early on but ferritin level (1020), triglyceride (1.7), apyrexia, no splenomegaly were initially not typical of HLH. Additionally his coagulopathy and bleeding episodes discouraged liver or bone marrow biopsies. With time and persistent multiple organ involvement, in addition to exclusion of major metabolic, immunodeficiency and rheumatologic disorders, it became essential to perform bone marrow aspirate to rule out HLH despite deranged clotting. Bone marrow aspirate confirmed HLH with prominent phagocytic activity. Methylprednisolone & cyclosporine was commenced with subsequent improvement of hepatic and general status. Ferritin levels increased peaking at 11,262 despite treatment. Etoposide was added to his treatment. His multiple organ system failure/dysfunction were undoubtedly secondary to the HLH. He steadily improved with weaning down of picu support, but had sudden pulmonary haemorrhage necessitating maximal ventilator support. Up to this stage there was no clinical neurological evidence of intracranial bleeding. MR brain and angiography had been normal. Unexpectedly he then developed catastrophic acute right cerebral intra-parenchymal haemorrhage with gross mass effect and associated intraventricular haemorrhage. No neurosurgical intervention was possible. He had fixed dilated pupils. On the request of his family a palliative route was undertaken and care withdrawn.
HLH is a rare but potentially fatal disease. It is not a single disease entity but a clinical syndrome of hyperinflammation resulting in uncontrolled and ineffective immune response. It may develop after a number of recognised genetic mutations or in association with infection, malignancy, autoinflammatory or metabolic conditions. Patients presenting acutely with clinical picture of likely sepsis who deteriorate despite maximal therapy, diagnosis of HLH should be considered.
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