Case Diagnosis: A 12-year-old male with extreme medical complexity presents with stiff person syndrome.
Case Description or Program Description: A 12-year-old male with common variable immunodeficiency (CVID) and frequent infections presented to outpatient pediatric physiatry with painful muscle spasms in association with complex diagnoses and symptoms. He was followed by rheumatology, neurology, and immunology and had been diagnosed with stiff person syndrome with greater than 250 IU/ml anti-glutamic acid decarboxylase (GAD-65) antibodies. Electromyography showed abnormal repetitive nerve stimulation consistent with mild neuromuscular junction disorder. He completed a trial of intravenous (IV) solumedrol, plasmapheresis with only very transient improvements.
Assessment/Results: Due to recurrent episodes of hypoglycemia, nasogastric tube use was recommended and ultimately patient agreed to a gastrostomy tube. He was started on valium for daytime muscle spasms and facial myoclonus, and clonazepam for breakthrough symptoms. Due to gradual worsening of symptoms of stiff person syndrome, as well as CVID, low dose 1g/kg intravenous immunoglobulins (IVIG) with improvement in symptoms lasting several weeks but symptoms again worsened. IVIG was increased to 2g/kg to treat immunodeficiency and stiff person syndrome and he initially had substantial relief of his symptoms lasting nearly 3 weeks. He continued on high dose IVIG every three weeks. After 4 years, this provided only about 4 to 7 days of symptom relief. Rituximab infusion has been prescribed but insurance authorization is pending. Throughout his course, physiatry took a larger role in managing his care, including arranging for gastrostomy tube and port placement, prescription of medications for urinary retention and ordering IVIG treatments.
Discussion (relevance): There are currently few reports of pediatric stiff person syndrome in literature.
Conclusions: This demonstrates a rare case of a medically complex pediatric patient with stiff person syndrome, for whom physiatry has played a major role in treatment and management.