Background: Stiff-person syndrome (SPS) is a rare disorder which is characterized by muscle rigidity, spasm and cerebellar abnormalities. The etiology is not clarified yet. 80% of cases are caused by an autoantibody against GAD that inhibits synthesis of GABA. Other autoimmune diseases such as type 1 diabetes mellitus and thyroiditis are often associated.
Aim: To underline the importance of considering SPS in differential diagnosis of patients with type 1 diabetes associated with neurological abnormalities.
Case: A 10-year-old girl was referred to our department due to hyperglycemia. The diagnosis of type 1 diabetes was made upon clinical and laboratory findings. Blood glucose was 500 mg/dl, HbA1c 8%, and serum anti-GAD antibody was positive. Serum thyroid autoantibodies were also elevated. She had been diagnosed with cerebellar ataxia 1 year ago but the etiology could not be established. She had no muscle rigidity or spasm. On follow-up, cranial MRI revealed atrophic changes in cerebellum. Cerebrospinal fluid examination was negative for anti-GAD antibodies.
Conclusion: Although the etiology of SPS is undefined and clinical spectrum is large, this syndrome should be considered in the differential diagnosis of patients with type 1 diabetes associated with neurological abnormalities.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology