Abstract

A 6 month old girl was referred to the paediatric out-patient clinic by her GP as she was noted to have frontal skull bossing and an increase in her head circumference from the 50^th to the 98^th centile. She was developing normally and was neurologically intact; however she did appear very pale. A skull x-ray was performed which showed abnormally thickened bones over the frontal and occipital regions with an apparent ‘hair on end’ appearance. This has previously been seen in haemolytic anaemias, but not reported in sideroblastic anaemia. A full blood count showed a marked microcytic anaemia and bone marrow showed ring sideroblasts. Genetic testing confirmed a homozygous mutation in the SLC25A38 gene that is associated with autosomal recessive congenital sideroblastic anaemia. She received a blood transfusion at the time of diagnosis and remains transfusion dependant. This case illustrates frontal bossing as a potential presenting feature of sideroblastic anaemia. Congenital sideroblastic anaemia’s are rare conditions caused by mutations in enzymes involved in the insertion of iron into the haemoglobin molecule. Mutations of SLC25A25A38 are inherited in an autosomal recessive pattern and give rise to a non-syndromic severe microcytic anaemia, which often presents in the first few months of life.