In recent years the association between severe pregnancy complications and fetal fatty acid oxidation (FAO) disorders has been reported. However, there are few descriptions of a maternal FAO disorder leading to these complications. We describe acute liver failure associated with an undiagnosed maternal medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. The previously healthy proband presented at the 39th week with an itchy rash, palmar erythema and trace proteinuria; she was admitted onto a maternity ward. Acute fatty liver was suspected from the blood tests and a Caesarean section was performed, delivering a healthy boy. Cord blood samples were taken at delivery as part of an ongoing research project. The analysis of the cord blood sample showed a high concentration of octanoylcarnitine of 2.3 micromol/L (reference <0.1), suggesting a possible fatty acid oxidation disorder. However, subsequent acylcarnitine analyses of the baby's blood showed a normal pattern. The proband was further evaluated by urine organic acids and acylcarnitine profile. Elevated concentrations of hexanoylglycine in urine and octanoylcarnitine in blood spots were found, consistent with a diagnosis of MCAD deficiency. Mutation analyses confirmed that she was homozygous for c.985A>G (K329E). Even though these pregnancy complications are rare and it is not possible to affirm that the proband's acute liver failure was secondary to an undiagnosed MCAD deficiency, it seems likely.

A 2-year-old boy with a history of pica was admitted with vomiting and treated overnight for viral tonsillitis. A week later, he presented with a prolonged afebrile seizure and required intubation and ventilation. Antibiotics and acyclovir were started. Despite extensive investigations including MRI head, no cause was identified. Four days later, he deteriorated with signs of raised intracranial pressure. On day 5, blood lead concentration in the sample collected at admission was reported as grossly elevated, consistent with a diagnosis of severe lead poisoning from ingesting lead-containing paint at the family home. Chelation therapy was started but, unfortunately, he did not make a neurological recovery, and care was withdrawn. A serious case review identified a lack of awareness of lead poisoning and its relation to pica as a root cause. We report this case to share our experience and the importance of considering lead poisoning in children with pica.

Introduction: Macroprolactin (MPRL) is an important source of interference that may lead to misdiagnosis and mismanagement of hyperprolactinaemic patients. Prolactin assays exhibit considerable variation in the detection of MPRL. In this study, we examine the requirement for polyethylene glycol (PEG) precipitation in the analysis of hyperprolactinaemia detected by the Advia Centaur as it has a relatively low reactivity with MPRL. Methods: Four hundreds and sixty-four hyperprolactinaemic samples were collected from the laboratory information system for Saint James University Hospital over a three-year period. These samples were screened for MPRL using PEG precipitation protocol. Monomeric prolactin concentration post-PEG precipitation was compared with a reference range determined by PEG precipitation in normal subjects. Results: MPRL was the cause of hyperprolactinaemia in 4% of patients (16/409) over the three-year period studied. Nine subjects with MPRL also had elevated monomeric prolactin. Conclusions: PEG screening is still needed for assays with low MPRL reactivity such as the Advia Centaur and this should be performed with a locally derived reference range for monomeric prolactin.

The presence of macroprolactin can change over time and we cannot advise that once a test for macroprolactinemia has been performed that it is not necessary to repeat the investigation if a subsequent sample is hyperprolactinemic; nor can one assume that macroprolactin will not develop even if it has been excluded previously.