Bone Abstracts

Background: Primary childhood osteoporosis is rare. We report a 9-year-old Sri Lankan girl with severe failure to thrive, scoliosis and low bone mineral density, with no apparent diagnosis.

Presenting problem: A 9-year-old girl was referred for evaluation of short stature and scoliosis. She is the third living child of healthy non-consanguineous parents. She was born at term with low birth-weight (1.8 kg −2.9S.D.), birth length (43 cm, −3S.D.) and head-circumference (30 cm, −3S.D.), and continued to grow poorly. Scoliosis of spine was noted by parents around 3 years of age. She first received medical attention at 6 years of age for a cardiac murmur. Echocardiography revealed an atrial septal defect which was closed surgically at 8 years of age. There was no history of bone pain, backache or fractures. She had recurrent respiratory tract infections, but was not on steroids or any other long-term medication. Family history was unremarkable, except for neonatal death of a sibling, and a short maternal aunt without scoliosis. Her parents and siblings were of normal height. On examination, she had severe growth retardation (height 98.5 cm [−6.3S.D.], weight 9.5 kg [−11S.D.], BMI 9.8 kg/m² (−7.7S.D.). She had structural scoliosis with a right thoracic curve, camptodactyly of fingers and lateral deviation of toes. She had normal sclera, no clubbing, nor features of renal disease or rickets.

Clinical management: On biochemical evaluation, she had normal serum calcium (2.3 mmol/l), phosphate (1.47 mmol/l) and alkaline phosphatase (200 IU/l), mild vitamin-D insufficiency (25-OH-D 58.9 mmol/l), normal venous blood-gas-analysis (pH 7.41, bicarbonate 29 mmol/l). Serum IGF-1, full blood count, blood film, serum albumin, liver function tests, serum electrolytes, serum creatinine and stool report were also normal. Spinal X-rays showed scoliosis, and DXA scanning showed very low bone mineral density of lumber spine (z-score-4.4) and hip z-score-4.1).

Discussion: We are looking for a unifying diagnosis, feasibility of surgery for scoliosis and place of bisphosphonate therapy in this child.

Disclosure: The authors declared no competing interests.