Endocrine Abstracts

Background: Stiff Person Syndrome (SPS) is an extremely rare neurological disorder, with an expected prevalence of less than 1 per million. The first described case of SPS in the literature was reported in 1959 by Moersch and Woltman. SPS is featured by progressive muscle stiffness, rigidity, and spasm involving the axial muscles, which may result in severely impaired ambulation. SPS seems to have an autoimmune basis although its exact pathogenic mechanism is still cloudy. Most SPS cases are associated with antibodies against glutamic acid decarboxylase (GAD).

Case report: We report a case of 15 years old boy presented with history of stiffness of upper and lower limbs associated with stiffness of neck with restriction of movements. Initially suspected to have spinal cord involvement or tetany. He had presented to endocrine department 9 years back with easy fatigability, weight loss, giddiness and generalised darkening of skin. He is born out of consanguineous marriage and 1st in birth order among 4 children. He was diagnosed to have primary adrenal insuffiency and was started on replacement. On evaluation, MRI brain and spine were normal. Other blood investigations were normal. GAD antibodies in serum was strongly positive. Patient was diagnosed to have stiff man syndrome based on clinical and autoimmunity panel which showed anti GAD antibodies strongly positive and ENMG. Patient was treated with IV immunoglobulins and steroids. Recently he was diagnosed to have type 1 diabetes and started on insulin.

Conclusion: In conclusion, this case highlights that an acute gait disturbance syndrome and stiffness in children with primary adrenal insufficiency should raise clinical suspicion of autoimmune diseases and stiff-person syndrome.