Endocrine Abstracts

Osteopathia striata with cranial sclerosis is an X-linked disease caused by mutation in the gene encoding WTX that controls cell signaling affecting bone turn over. While the disease is almost always lethal in males, females exhibit cranial sclerosis, craniofacial dysmorphism and longitudinal sclerotic striations on the long bones. Here is a case of 25 year old female referred to the metabolic and bone clinic for further assessment of chronic back pain and stiffness of the lower back. She has also had on-going pain in the knees, wrists and shoulders associated with muscle aches and pains. She had no history of fractures. She is known to have history of scoliosis from young age requiring corrective surgery. she also has bilateral conductive deafness and she required teeth extraction to allow teeth eruption. On previous ENT consultation, abnormal thickening of the skull was reported as an incidental finding during assessment for conductive deafness. Clinical examination showed scoliosis in the thoracic vertebrae. She also had tenderness over the lumbar spine and sacro-iliac joints with tenderness over the left and right femurs with no deformities. The maxillary bones were prominent with mild overgrowth of the mandible. Her visual fields were normal. Skull x-ray confirmed cranial sclerosis. Her BMD scan showed spinal Z-score of +4 SD above the age related reference range. Femur neck Z-score was +3.8 SD above the age related reference mean. X-rays of the femurs showed significant linear striation bilaterally. Baseline haematology and biochemistry were all normal. Bone profile, PTH and 25-OH vit D, CTx and P1NP were all within reference range. In female subject the disease is not serious. However, counseling is essential in regards to inheritance, associated complications such as deafness, cranial nerves involvements, musculoskeletal deformities and pain and difficult labour.

Declaration of interest: There is no conflict of interest that could be perceived as prejudicing the impartiality of the research reported.

Funding: No specific grant from any funding agency in the public, commercial or not-for-profit sector.