A recent patient case on Sermo reminded me of seeing an 11-day-old baby with reddish-blue skin lesions and mild hepatomegaly.
This presentation reminded me of a “Blueberry Muffin Baby” for which there was a whole slew of differential diagnosis, including the TORCH infections (toxoplasmosis, other, rubella, cytomegalovirus, herpes), blood dyscrasias (acute myeloid leukemia, congenital leukemia), hemolytic disease of the newborn (ABO or Rh incompatibility, hereditary spherocytosis), Langerhans cell histiocytosis, congenital vascular malformations, and neuroblastoma.
I took my time to make a diagnosis, planning the investigations carefully to minimize the trauma since I was dealing with a newborn baby. I made a lucky diagnostic hit with the first test, an abdominal ultrasound. This showed a small calcified adrenal lesion and massive infiltration of the liver. So the diagnosis was congenital neuroblastoma blueberry muffin baby!
Liver and bone marrow biopsies showed neuroblastoma with bone marrow but not bone metastases. Despite the young age, she had intermediate-risk neuroblastoma, with some unfavorable and some favorable biology features. In her favor were her age, absence of bone metastases, aneuploid & Trk A-positive tumor cells, with no MYCN oncogene amplification and no chromosome 1p-deletion. In her disfavor was her extensive liver infiltration that could result in respiratory distress from compression of the lungs. She also had unfavorable tumor histology with a high mitosis-karyorrhexis index. Her physiologically reduced renal function of the newborn would predispose her to the tumor lysis syndrome with chemotherapy.
I finally treated her with chemotherapy cautiously because of her reduced renal functions. Her disease melted away and she never needed surgery, radiation, or autologous stem cell transplantation. Years later, when I see her all grown up into a beautiful young lady, I remembered my Blueberry Muffin Baby in whom I made a lucky diagnostic hit with the first test, and successfully cured her with minimal therapy!
Are you a physician who has seen a “blueberry muffin baby” or made an incredibly lucky diagnostic hit with a first test? Login or join Sermo to tell us about it.