Unique clinical presentation equals teamwork for accurate diagnosis

In Somalia, a baby was brought for an evaluation. 

A three-day-old male baby was brought to an MSF clinic in Somalia for evaluation, owing to a chest deformity and abnormal chest motions seen by his mother while bathing him. The mother delivered the child after nine months of gestation, at home and without any complications. 


This was the family’s sixth child, but only four of them were alive and in good health. Among the previous births was a set of twins; one of the twins died shortly after birth, while the other died at the age of three (cause not known).  


The mother revealed that during the eighth month of her pregnancy, she fell on her tummy, resulting in mild vaginal bleeding. She was then admitted to the hospital and required a blood transfusion due to anemia. Thankfully, the unborn child was unharmed by the accident. 


The newborn weighed 3 kg, was cold to touch, and had blue skin discoloration resulting from insufficient blood oxygenation. A right chest deformity and an additional nipple on the same side of the chest were discovered during the chest examination.  


In view of the uniqueness of this presentation, the project medical team submitted the case on the telemedicine platform for radiological and clinical treatment advice. The case was received by Dr. Jaap Karsten, a general pediatrician practising telemedicine in the Netherlands, and Dr. Michelle Fink and Dr. Edith Rivoal, a pair of radiologists stationed in Australia and France who frequently deal with challenging pediatric radiology cases. Both radiologists agreed that this was a rare heritable illness called Spondylocostal dysostosis, a skeletal growth disorder characterized by widespread and occasionally severe spine and rib abnormalities. 


Fortunately, the baby had no other medical issues besides the skeletal deformity diagnosed by the radiologists. Based on the telemedicine pediatrician’s recommendation, the baby was subsequently managed with oxygen and supportive therapy. Also, within seven days, regular breastfeeding was initiated successfully, and the parents were counselled and provided with helpful information before the baby was discharged home. 


This example demonstrates the tremendous significance of specialized telemedicine support for a rapid and accurate identification of a rare congenital malformation, ensuring an evidence-based treatment strategy and offering a chance for the project medical team to get medical training.



By Dr Nilza Angmo and Dr Ahmed Igbin

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