Skeletal Dysplasia in Two Indian Siblings under Individualised Homeopathic Care: Case Reports and Literature Review

Abstract van Buchem Disease (VBD) and sclerosteosis are two types of skeletal dysplasia that are extremely rare, and rarer still in the Indian context. They are mutations of the SOST gene that codes for sclerostin, an inhibitor of anabolism in bones. As a result, excessive bone deposition occurs, especially in the skull, leading to a spectrum of clinical symptoms. A detailed literature review shows lack of clarity regarding their presentation, management and prognosis. We present cases of two Tamil siblings born to consanguineously wed parents, diagnosed of skeletal dysplasia. While genetic testing was not done in their cases, VBD/sclerosteosis seem to be the most likely diagnosis. They were managed through out with classical homeopathy. The older sibling who was 18 years old at the time of first intake, had severe behavioural issues along with vision and hearing loss, had mild improvement in them but succumbed to complications of anaesthesia while being treated for an injury. The younger sister presented along with the older brother, when she was 11 years old, with minimal loss of vision in the left eye. Her condition stabilised under classical homeopathy and the MRI showed halt in progress of the disease, one year into the treatment. She has been followed up for over 9 years and is a thriving adult with minimal symptoms at present. The two cases of rare skeletal dysplasia (probably VBD/sclerosteosis) outline the salient features of this disease in an Indian context. While no causality may be attributed to classical homeopathy for the halting of the disease, there were clear improvements in vision and hearing under this treatment in both the siblings. These observations need to be extended with scientific studies to make any conclusion about the treatment. Keywords: van Buchem disease; Sclerosteosis; SOST protein; Case report; Classical homeopathy