Background: Poland syndrome (PS) is characterized by unilateral absence or hypoplasia of the pectoralis muscle, most frequently involving the sternocostal portion of the pectoralis major muscle, and a variable degree of ipsilateral hand and digit anomalies, including symbrachydactyly. Congenital Hyperinsulinism (CHI) is the result of unregulated insulin secretion from the pancreatic β-cells leading to severe hypoglycaemia. We report a baby with Polands syndrome and 10p11-p13 duplication in association with CHI. This association has not been previously described in the literature.
Case: The baby girl was born at term by emergency C-section due to abnormal CTG to non-consanguineous parents with a birth weight of 2kg (−3.3 SDS). She was born in good condition. She was noted to have recurrent hypoglycaemic episodes since birth. Further investigations revealed an inappropriately high plasma insulin (77 pmol/l) and low plasma free fatty acids (447 μmol/l) and β-hydroxy butyrate (<29 μmol/l) during hypoglycaemia (blood glucose 1.0 mmol/l) confirming a diagnosis of CHI. The patient was commenced on diazoxide (5 mg/kg per day) to which she was responsive. She had absence of pectoralis major on the left side of the chest. The x-ray and MRI imaging of the spine revealed the absence of left upper thoracic ribs, sprengel deformity of the left scapula and myelomeningocele at the cervico-thoracic junction of the spine. Microarray revealed duplication in the 10p11-p13 region. The MRI scan of brain did not reveal any abnormality. The parents microarray results are awaited.
Conclusion: CHI can be an associated feature of several genetic and developmental syndromes. This is the first reported case of CHI in association with PS and 10p11-p13 duplication. The genetic mechanism(s) in this syndrome that leads to dysregulated insulin secretion is unclear.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology