An 8 year old child with Pfeiffer syndrome presented at the Paediatric Casualty Department. She had a two week history of severe pallor and progressive lethargy.
Pfeiffer syndrome is a genetic disorder characterised by craniosynostosis, visual impairment and ocular proptosis. It is thought to be associated with deficiencies associated with fibroblast growth factor receptors on chromosome 8 and 10.
This young child was of short statue. She had dysmorphic features and was blind. She demonstrated reduced exercise tolerance, unable to keep up with her siblings. She had a history of complex neurosurgical and plastic surgery. She had difficulty in eating solids hence her dietary intake was pureed solids; meats, fish and dairy products.
Her parents had become Jehovah Witnesses in 2006.
A full blood count was performed with the following results:
Hb 23 g/L, WBC 6.8 x 109/L and Platelet count 259 x 109/L.
The RBC was 1.97 x1012/L, Hct 0.100, MCV 51.8 fL and RDW-CV 23.1%.
The Reticulocyte count was 1.5% and absolute count 29.4 x 109/L.
The blood film revealed a marked microcytic, hypochromic anaemia with elliptocytes and pencil cells consistent with a severe iron deficiency anaemia.
Iron studies were performed with the following results:
Iron 1.2 µmol/L, Transferrin 3.8 g/L, Iron saturation 1.3% and Ferritin 1 µg/L.
Parvovirus B19 was negative and the Hb EPG was normal.
Bone marrow trephine showing sheets of plasma cells
The Medical Dilemma was now clearly an acute life threatening event. The child had cardiac signs and was at risk of cardiac failure or arrest. She was in need of intensive care. There was also a need to acknowledge the religious beliefs of the family. At this point a hospital administrator was called. The parents reluctantly consented for a blood transfusion. Meanwhile the child’s father contacted support from the Jehovah Witness community to attend the hospital. Consent to transfuse was withdrawn.
The possibility of an iron transfusion and administration of erythropoietin was discussed. However the Consultant Haematologist caring for the child was adamant that she required an urgent blood transfusion. At this point in time the hospital Chief Executive Officer was contacted as was a social worker, Department of Community Services and the Child Protection Consultant. The Consultant Haematologist was requested to attend the Supreme Court under section 174 of the Children and Young Persons Act 1998. However, provided the Consultant Haematologist was prepared to sign an affidavit that the child required a transfusion a visit to the court could be waived. An affidavit was signed and the child was transfused.
The post transfusion Hb was 125 g/l.
The Department of Community Services was not required in this case and the child was discharged.