Endocrine Abstracts

Introduction: Stuve–Wiedemann Syndrome (SWS) is a rare genetic condition with autosomal recessive inheritance characterized by the association of typical facial appearances, skeletal manifestations including bowed legs and dysautonomia. Only two patients with long survival have been reported in 2001. We report three children whose periodic clinical evolution could be observed in our hospital until the age of 9 years. We report a case of SWS with associated nephrotic syndrome – a previously unrecognised association.

Case 1: A female child born to consanguineous parents with short limbs and talipes. Required initial period of ventilation. She had feeding difficulties and experienced episodes of hyperpyrexia and increased sweating. She was diagnosed with the expertise of the European skeletal dysplasia network as the initial CGH was not contributory.

Case 2: The brother of case 1, had signs of PPHN which settled postnatally. He had a cardiac arrest, during which he developed rhabdomyolysis with acute renal failure. He had severe keratitis compared to his sister, both had osteopenia and scoliosis and were supplemented with Vit-D and alpha calcidol

Case 3: Sixth-born male child to non-consanguineous parents with antenatally diagnosed bent long bones. He had a similar clinical profile characteristic of Stuve Weidemann syndrome with skeletal dysplasia and dysautonomic symptoms and confirmed LIFR gene mutation. He has superior end plate fractures from T10-L1 and 2 fractures in right fibula and middle finger with trivial trauma awaiting DEXA prior to consideration of Bisphosphonates. He has a scoliosis and abnormal gait with apparent limb length discrepancy with valgus deformity. He developed steroid-dependent nephrotic syndrome which is not a described association of SWS. LIFR gene mutation is associated with urogenital anomalies with urothelial changes, but nephrotic syndrome has not been described before in the literature. The initial steroid treatment may have contributed to osteopenia.

Conclusion: SWS is a rare condition in which osteopenia and the use of Bisphosphonates is postulated to be beneficial. However, international collaborations to develop multi-disciplinary expertise and clinical recommendations would be beneficial.