Ekman-Lob Stein Syndrome in Iraq: An Educational Article and Expert Opinion

Abstract

Aamir Jalal Al Mosawi

Background: Ekman-Lobstein syndrome is a genetic bone disorder that has also been called Lobstein syndrome, Vrolik syndrome, Fragilitas ossium, Glass-bone disease, and Brittle bone disease and 0steogenesis imperfecta. The condition is not a single disease, but a variety of disorders or types of variable severity. We have previously described a case of Ekman- Lobstein syndrome in a boy with blue sclerae that was most likely had type 1 of the syndrome according to David Owen Silence and colleague’s classification.

Materials and Methods: The case of two sisters with chronic deforming bone disease from Maysan Governorate in the south of Iraq, whom were observed during May, 2023 is described.

Results: The older thirteen years old sister has significant bowing of the limbs that markedly reduced her mobility, and she was using a wheelchair. The younger sister was at about the age of four and half years, and she had less severe bowing and she was still able to walk. Both girls had history of fracture of the upper limb. Both girls received the diagnosis of refractory rickets and were treated with vitamin D and calcium supplements. Both sisters have no blush sclera. The younger sister laboratory tests performed during May, 2023 showed normal serum calcium of 9 mg/dL and normal serum phosphorus of 5.16 mg/dL. However, the alkaline phosphatase was high at 164 u/l (Normally less than 140 u/l). Radiographs of both sisters showed no rachitic changes, but showed changes consistent with diagnosis of Ekman-Lobstein syndrome.

Conclusion: This paper documented the occurrence of another type of Ekman-Lobstein syndrome in Iraq without blue sclerae, in addition to type 1 (David Owen Silence and colleagues’ classification) which we have previously reported. The current expert opinion suggests that bisphosphonates have been shown to be beneficial in improving the condition and therefore should be considered as the treatment of choice.

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