--- a
+++ b/processing/MACCROBAT/25293719.txt
@@ -0,0 +1,26 @@
+Our patient (ID 73387) is a female child, born by an emergency caesarean section at 34 weeks of gestation to consanguineous, first-cousin British Pakistani parents.
+Antenatal scans showed that she was small for her gestation, weighing 1.19 kg at birth with a head circumference of 26.7 cm, considerably below the 0.4th centile.
+Induction of labour had been attempted because of the growth retardation but had failed, leading to the emergency caesarean section.
+The Apgar scores were 4 at 1 min, 7 at 5 min and 9 at 10 min.
+She was admitted to the neonatal intensive care unit for continuous positive airway pressure ventilation.
+At a few hours of age, she developed a severe lactic acidosis.
+The initial lactic acid concentration was 22 mmol/l and subsequently increased to 63 mmol/l (normal range, 0.7–2.1 mmol/l).
+She was treated with intravenous infusions of sodium bicarbonate and Tris-hydroxymethyl aminomethane (THAM), but it was never possible to correct the metabolic acidosis.
+She also developed hypoglycaemia within hours of birth that was corrected with an intravenous infusion of 15% glucose (7.8 mg/kg/min).
+The ammonia concentration was normal.
+Urine organic acid profile showed massive excretion of lactic acid and increased phenolic acids, especially hydroxyphenyllactate.
+Plasma amino acids showed raised concentrations of alanine and glutamine (1567 and 1369 μmol/l, respectively), consistent with the lactic acidosis; several other amino acids were also mildly increased.
+There was gross generalised aminoaciduria.
+Blood acylcarnitine analysis was normal.
+Echocardiography showed a structurally normal heart and good ventricular function.
+Cranial ultrasound showed bilateral intraventricular cysts within the frontal horns and anterior portions of the lateral ventricles.
+The left-sided cysts were larger, up to 15 mm in diameter, whereas the largest cyst on the right was 8 mm in diameter.
+The choroid plexuses were hyperechoic and irregular, suggesting previous intraventricular haemorrhage.
+Abdominal ultrasound showed a distended urinary bladder but was otherwise unremarkable.
+There was severe coagulopathy with an extended prothrombin time of 47.7 s (normal 12.3–16.6 s), a very low plasma albumin of 7 g/l (normal 35–50 g/l), otherwise normal liver function tests but a raised creatine kinase of 2700 U/l (normal <300 U/l).
+She was transferred to a tertiary centre because of her worsening metabolic acidosis.
+She started having seizures at ∼48 h of age.
+Despite infusions of bicarbonate and THAM, her acidosis continued to worsen.
+Muscle and skin biopsies were performed and the family agreed to the withdrawal of intensive care treatment.
+She died aged 55 h.
+All documented studies were approved and performed under the ethical guidelines issued by each of our Institutions for clinical studies, with written informed consent obtained from the family.