‘Blueberry muffin syndrome’ is the descriptive term used for an infant born with multiple blue/purple marks or nodules in the skin. These are due to the presence of clusters of blood-producing cells in the skin (extramedullary erythropoiesis), or bleeding into the skin (purpura), or spreading cancer (metastases).
Blueberry muffin syndrome
Blueberry muffin syndrome
Blueberry muffin syndrome
What are the causes of blueberry muffin syndrome?
There are many underlying causes that need to be considered when a baby presents with blueberry muffin syndrome. These include:
Frequently there may be associated anaemia and enlargement of the liver and spleen (hepatosplenomegaly).
Infants with congenital infection may show other features such as:
Poor growth (intrauterine growth retardation)
Jaundice
Abnormal development of the central nervous system (which may include deafness, cerebral calcifications, impaired neurodevelopment, microcephaly/macrocephaly, chorioretinitis, seizures).
Management of blueberry muffin syndrome
The investigation and management of an infant with blueberry muffin syndrome often involves many specialists:
Neonatologists
Paediatricians
Dermatologists
Haematologists/Oncologists
Infectious disease specialists.
Investigations may include:
Full blood count and film – specialist review by a paediatrichaematologist is recommended, as the initial features of leukaemia may be subtle.
Skin biopsy – to look for features of leukaemia or tumours.
Bone marrow biopsy – to look for features of leukaemia, blood abnormalities, infection or tumours.
Ultrasound scan of the abdomen – to look for hepatosplenomegaly and neuroblastoma.
Screening tests for congenital infection – TORCH screen, including maternal and infant serology and PCR, cerebrospinal fluid PCR, urine viral cultures, ultrasound and/or CT of the head, and other investigations as per clinical suspicion.
Treatment and prognosis
The treatment and prognosis depends upon the underlying cause.
