ESPE Abstracts

Background: Skeletal dysplasias are a heterogeneous group of more than 200 disorders characterised by abnormalities of cartilage and bone growth, resulting in abnormal shape and size of the skeleton.

Case presentation: We present two children (brother 7 years and sister 11 years), investigated for growth retardation, part of five children brotherhood from apparently healthy non-consanguineous couple (mother’s height=158 cm and father’s height=163 cm). They had normal birth weight and the delayed growth development was progressively observed from early childhood. Brother’s clinical examination revealed low height −4.08 S.D. (104.5 cm), hypopigmentation areas on face and body (diagnosed as vitiligo), curved tibia and radius, with limited extension in the joints. The sister presented similar clinical phenotype: low height −4.65 S.D. (118 cm), curved long bones in the forearm and leg, but no vitiligo lesions. Both children associated enamel dysplasia. Bone X-rays revealed delayed bone age and confirmed the clinical aspect, but could not plead for a certain diagnostic. Family history revealed a paternal grandmother with similar phenotype, indicating a recessive autosomal transmitted genetic disease. The investigation of somatotropic axis showed low IGF1, low basal GH with no stimulation at insulinemic induced hypoglycaemia, in both children. The IRM of the pituitary revealed an ‘empty sella’ aspect in the boy and a small hypophysis in the girl. Parameters of phospho-calcium metabolism were within normal range. The suspicion of a mucolipidosis was invalidated by enzymatic testing. A suspicion for Pile’s disease was raised, with few data in the literature to compare and the positive diagnosis was not possible due to lack of diagnostic markers.

Discussion: Taking into account the documented GH deficiency, the necessity of GH replacement therapy was raised. Owing to the important bone deformities (suggesting a metadiaphyseal bone disease), the treatment was delayed and we chose to closely monitor the growth rate and, if possibly, further investigate the genetic mutations implied.