An eight-year-old boy in Ecuador suffers from a previously unknown bone disease of the spine and lower extremities. This not only makes it difficult for him to walk, but also causes increasing pain. A therapy is urgently indicated.
Eight-year-old Juan (name changed) from Ecuador suffers from a skeletal deformity that mainly affects the spine (lumbar hyperlordosis) and lower extremities. The shape of the legs is altered by bilateral coxa vara and valgus knees to such an extent that the knees interfere with each other and a normal gait is impossible (Fig. 1). The boy cannot walk independently without support. He also suffers from pain in his legs, which has increased significantly recently.
Juan’s mental development is normal for his age, and his family history is negative according to his parents. Apart from the malposition, the child is unremarkable and in normal nutritional condition.
Image findings
The first contact took place in Ecuador in July 2015. X-ray images were already available at that time (Fig. 2), but they were from 2012.
The femora are varically bent, there is a coxa vara on both sides. The distal metaphyses of the femora are distended, somewhat less so are the proximal tibial metaphyses.
Laboratory
Laboratory tests have been performed several times, but without arriving at a diagnosis. The main results of this research are:
- alk phosphatase 746 U/l (0-460), Ca urine 10.5 mg/24 h (100-321), IG1 105 ng/ml (148 for 8 a), Vit D 54 ng/ml.
- Creat serum 0.29 mg/dl (0.7-1.2), phosphor serum 2.5 mg/dl (3.4-6.2).
- Parathyroid hormone 34.0 pg/ml (12-74), TSH 1.79 uUI/ml (0.4-4.0), free T4 1.37 ng/dl (0.8-1.9).
- Leukocytes 10.93, neutrophils 6.99, neutrophils % 63.9 (31-51), lymphocytes % 28.8 (38-42).
All other results were normal.
Course
In Ecuador, no one has been able to help the boy. According to the current state of knowledge, it is probably a phosphate diabetes.
Treatment abroad seems unrealistic so far, because at the moment it is not known where to turn to and the costs are not affordable for the family.
Call
If you have experience with your own patients or possible further diagnoses, we would be pleased to hear from you – also regarding addresses of specialists. Please send your message to: foundation@orphanhealthcare.com
Thank you very much!
