Corticotropin
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Lack of efficacy: case report A 26-month-old boy exhibited lack of efficacy during treatment with corticotropin for epileptic-encephalopathy. The boy was born at 38 weeks of gestational by uncomplicated delivery. Developmental delay was noted from the first months of life, mainly characterised by axial hypotonia. At the age of 12 months, he was diagnosed with hypothyroidism and substitutive treatment was initiated. Electroencephalogram revealed the presence of severe disruption of background activity and multifocal epileptiform abnormalities intermingled with high-voltage slow waves. Therefore, even though clinical seizures were absent, he started receiving levetiracetam. However, two months later, no change in EEG was noted. Therefore, levetiracetam was switched with clobazam and valproic acid. At 16 months of age, he presented with a global deterioration: worsening of vigilance, feeding difficulties and asthenic body habitus with poor muscle bulk. A repeat EEG showed a pattern characterised by subcontinuous diffuse epileptiform abnormalities with a higher amplitude over the bilateral frontal regions. He was initiated on corticotropin [adrenocorticotropic hormone] 0.1 mg/day (limited to 10 days due to concern of sepsis) for epileptic-encephalopathy; however, no effect was seen. Ten days later, his clinical status was characterised by unresponsiveness with fluctuating eyelid myoclonia and jerks in the distal segments of limbs. The third EEG revealed a non-convulsive status epilepticus (NCSE) with continuous diffuse epileptiform abnormalities. Hence, the boy was treated in ICU with midazolam, ketamine, sodium thiopental and propofol. The NCSE lasted for 20 days, after which clinical conditions improved. At the last follow-up (aged 26 months), cognitive assessment revealed a severe developmental delay with severe axial hypotonia. At the age of 2 years, he underwent gastrostomy. Later, daily multiple atypical absences associated with eyelid myoclonia were disclosed and he was treated with topiramate. Whole exome sequencing showed the hemizygous missense variant c.2359 G > A (p.Glu787Lys) in the GRIA3 gene (NM_000828), inherited from his healthy mother. Based on this genetic finding, a trial of perampanel 4 mg/day was done for one month, however, no change in EEG or clinical condition was noted. Trivisano M, et al. GRIA3 missense mutation is cause of an x-linked developmental and epileptic encephalopathy. Seizure: European Journal of Epilepsy 82: 1-6, Nov 2020. 803516136 Available from: URL: http://doi.org/10.1016/j.seizure.2020.08.032
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Reactions 21 Nov 2020 No. 1831
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