JLE

Epileptic Disorders

MENU

ACTH for epileptic spasms in Leigh syndrome with SLC19A3 mutation can induce status dystonicus Volume 24, issue 1, February 2022

Figure 1

Brain MRI and MRS at six months of age. (A, B) Axial T2-weighted images showing bilateral hyperintense lesions in the basal ganglia, thalamus, and cerebellum. (C, D) A peak of lactate is present in the basal ganglia (arrowhead) and white matter (arrow) on MRS.

Figure 2

Clinical course in this patient. Four days before starting with ACTH injection, CZP (at an initial dose of 0.02 mg/kg/day, increasing by 0.02 mg/kg/day every week up to 0.08 mg/kg/day) was started. The patient gradually became irritable on Day 1 and 7 after initial intramuscular injection of ACTH treatment (0.014 mg/kg/day). On the day after the injection, he developed fever, excessive sweating, increasingly frequent hypertonia with opisthotonos, and elevated serum level of CK. The level of CRP was normal over the course of ACTH treatment. Intravenous bolus injection of midazolam (0.15 mg/kg) was more effective for his condition including severe generalized dystonia than intravenous immunoglobulin (400 mg/kg/day for five days) and cefotaxime (130 mg/kg/day for three days). Transient subfebrile temperature (37.8 °C) with mild hypertonia at Day 10 after initial ACTH injection may have been associated with pre-status dystonicus triggered by ACTH injection. We considered transient increased body temperature (37.0 to 37.4 °C) to be normal because he occasionally had transient increased body temperature without the presence of other infectious or dystonic symptoms and signs even after the course of ACTH treatment was completed. Blood samples at Days 4 and 7 were obtained by heel prick. CTX: cefotaxime; CZP: clonazepam; IVIG: intravenous immunoglobulin; MDL: midazolam; PCT: procalcitonin.