25293719 Visualization

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