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A female infant, born to consanguineous Pakistani parents, was noted shortly after birth to have dysmorphic features, including prominent occiput, beaked nose, high arched palate, and arthrogryposis with dislocated hips and rocker bottom feet. Icthyosis was also present. Metabolic acidosis developed within a few hours of birth and severe conjugated hyperbilirubinaemia within two days.
Renal tubular acidosis was manifest by generalised aminoaciduria, phosphaturia, and an N-acetylglucosamine:creatinine ratio of >1000. Liver investigations revealed similar findings to those previously reported, with conjugated hyperbilirubinaemia, greatly increased alkaline phosphatase, but normal γ glutamyltransferase.1 Plasma and urinary bile acids were normal. Histology of the patient's liver revealed the presence of normal numbers of bile duct and no lipofuscin deposition or inflammatory changes. No giant cells were present.
Recurrent episodes of necrotising enterocolitis occurred during the first two months of life (no organisms were identified in either the blood or faeces at the time of the original or recurrent episodes). Repeated episodes of septicaemia occurred later. Marked failure to thrive persisted despite high calorie enteral feeds and correction of acidosis. The patient died at the age of 10 months.
This patient differs in two ways from previous reported cases. Firstly, liver histology varies from that reported by Eastham and colleagues, in whose patients the liver biopsy specimens all showed giant cell transformation.1 It may be possible that the histology did not show typical features due to early timing of the biopsy. It is however possible that our case represents a phenotypic variant of the same disorder.
Secondly, we believe our case to be the first reported to have necrotising enterocolitis. No immunodeficiency has been identified in our patient, unlike others in the literature.2–4 It was noteworthy that the patient was receiving hyperosmolar formula feeds at the time of the first episode. The occurrence of necrotising enterocolitis should warn clinicians of the potential risk of hyperosmolar feeds in severely growth retarded infants with acidosis, even when born at or after term.