Journal of Pediatric Neurology 2023; 21(06): 440-444
DOI: 10.1055/s-0042-1757196
Case Report

Adrenocorticotropic Hormone-Induced Dyskinesia and Probable Sudden Unexpected Death in an Infant with Early Infantile Developmental and Epileptic Encephalopathy—Infantile Epileptic Spasm Syndrome Overlap

1   Department of Neurology, Bangur Institute of Neurosciences, Kolkata, West Bengal, India
,
Uma Sinha Roy
1   Department of Neurology, Bangur Institute of Neurosciences, Kolkata, West Bengal, India
,
Atanu Biswas
1   Department of Neurology, Bangur Institute of Neurosciences, Kolkata, West Bengal, India
,
Uddalak Chakraborty
1   Department of Neurology, Bangur Institute of Neurosciences, Kolkata, West Bengal, India
› Author Affiliations

Abstract

A 2.5-month-old infant with global developmental delay, initially had generalized tonic spasms followed by appearance of infantile spasms from 4.5 months of age. Thus, he had evolution from early infantile developmental and epileptic encephalopathy (EIDEE) to infantile epileptic spasm syndrome (IESS). Neuroimaging and screening of inborn errors of metabolism were normal, but sleep electroencephalogram showed suppression-burst pattern. Treatment with intramuscular injections of adrenocorticotropic hormone (ACTH) was associated with significant control of infantile spasms, but was followed by development of right hemichoreiform movements 2 days later. Upon continuing ACTH treatment, the dyskinesia generalized, prompting us to stop it and shift to vigabatrin which resulted in partial control of his spasms. Whole-exome sequencing revealed an autosomal dominant heterozygous variation of uncertain significance in the NPRL3 gene. At 6 months of age, he suffered of a probable sudden unexpected death, without any notable illness. The case is unique because both the phenomena—ACTH-induced dyskinesia and probable sudden unexpected death in infancy—are rarely described in the EIDEE-IESS continuum.



Publication History

Received: 25 May 2022

Accepted: 25 August 2022

Article published online:
19 October 2022

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  • References

  • 1 Beal JC, Cherian K, Moshe SL. Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy. Pediatr Neurol 2012; 47 (05) 317-323
  • 2 Korff CM, Vulliemoz S, Picard F, Fluss J. Ohtahara syndrome or early-onset West syndrome? A case with overlapping features and favorable response to vigabatrin. Eur J Paediatr Neurol 2012; 16 (06) 753-757
  • 3 Patel T, Patel S. Ohtahara syndrome progressing to West syndrome. Int J Contemp Pediatrics 2021; 8 (05) 941-943
  • 4 Mishra A, Kumar Y, Kumar T, Singh R, Jha K. Electroencephalographic characterization of a case of infantile spasm with atypical presentation. Indian J Child Health (Bhopal) 2019; 6 (01) 42-45
  • 5 Subedar K, Basnet R, Bhakdari B, Gongal S, Rajak A. West syndrome - diagnostic dilemma in a month old infant without typical electroencephalographic features: a case report. J Kathmandu Med Coll 2019;8(02). Doi: 10.3126/jkmc.v8i2.28175
  • 6 Devinsky O, Friedman D, Besag FMC. Nocturnal monitoring in epilepsy: evidence mounts. Neurology 2018; 91 (16) 731-732
  • 7 Pathan SJ, Yousaf MIK, Shah VB. Sudden unexpected death in epilepsy. [Updated 2022 Apr 6]. In StatPearls [Internet]. Treasure Island, FL: StatPearls Publishing; 2022
  • 8 Gonsales MC, Montenegro MA, Soler CV, Coan AC, Guerreiro MM, Lopes-Cendes I. Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice. Arq Neuropsiquiatr 2015; 73 (11) 946-958
  • 9 Moloney PB, Cavalleri GL, Delanty N. Epilepsy in the mTORopathies: opportunities for precision medicine. Brain Commun 2021; 3 (04) fcab222
  • 10 Baldassari S, Picard F, Verbeek NE. et al. The landscape of epilepsy-related GATOR1 variants. Genet Med 2019; 21 (02) 398-408
  • 11 Iffland PH, Everett ME, Cobb-Pitstick KM. et al. NPRL3: direct effects on human phenotypic variability, mTOR signaling, subcellular mTOR localization, cortical lamination, and seizure susceptibility. bioRxiv. Doi: 2020.12.11.421214
  • 12 Radaelli G, de Souza Santos F, Borelli WV. et al. Causes of mortality in early infantile epileptic encephalopathy: a systematic review. Epilepsy Behav 2018; 85: 32-36
  • 13 Sillanpää M, Riikonen R, Saarinen MM, Schmidt D. Long-term mortality of patients with West syndrome. Epilepsia Open 2016; 1 (1-2): 61-66
  • 14 Harini C, Nagarajan E, Bergin AM. et al. Mortality in infantile spasms: a hospital-based study. Epilepsia 2020; 61 (04) 702-713
  • 15 Yamatogi Y, Ohtahara S. Early-infantile epileptic encephalopathy with suppression-bursts, Ohtahara syndrome; its overview referring to our 16 cases. Brain Dev 2002; 24 (01) 13-23
  • 16 Fukumizu M, Kurosawa T, Kasai H. et al. Unusual West syndrome with focal features and persistent suppression-burst pattern. J Epilepsy 1993; 6 (01) 15-22
  • 17 Saneto RP, Sotero de Menezes M. Persistence of suppression-bursts in a patient with Ohtahara syndrome. J Child Neurol 2007; 22 (05) 631-634
  • 18 Blumkin L, Suls A, Deconinck T. et al. Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation. Eur J Paediatr Neurol 2012; 16 (04) 356-360
  • 19 Strømme P, Mangelsdorf ME, Scheffer IE, Gécz J. Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX. Brain Dev 2002; 24 (05) 266-268
  • 20 Pavone P, Spalice A, Polizzi A, Parisi P, Ruggieri M. Ohtahara syndrome with emphasis on recent genetic discovery. Brain Dev 2012; 34 (06) 459-468
  • 21 Sukhudyan BG, Dimova PS, Capuano A, Vigevano F. Dyskinesia as a new adverse effect of hormonal treatment in West syndrome. Epileptic Disord 2014; 16 (01) 5-12
  • 22 Crippa ACS, Bayer DL, Souza LP, Franklin GL. Adrenocorticotropic hormone (ACTH)-induced dyskinesias in infantile spasms: a video case report. Am J Case Rep 2022; 23: e935349
  • 23 Arita JH, Vale TC, Pedroso JL. et al. ACTH-induced dyskinesia in a child with West syndrome (infantile spasms). Parkinsonism Relat Disord 2016; 24: 145-146
  • 24 Traynelis J, Silk M, Wang Q. et al. Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation. Genome Res 2017; 27 (10) 1715-1729