Objective: 5 russian female patients aged 3 to 6 years with different mutations of the WDR45 gene were examined.

Background: To study the clinical picture and course of epilepsy in children with OMIM 300894.

Method: Assessment of neurological status, psychological testing, video EEG monitoring, MRI.

Results: Motor development is impaired, children do not walk 100%. Expressive speech is absent, speech understanding is poor 100%. Behavior is characterized by marked contact disorder, multiple stereotypes. Self-service skills are not developed. Neurological status: paresis 3 – 4 points (100%), extrapyramidal hypertonus (2 cases), diffuse muscle hypotonia with  ataxia (2 cases). Movement disorders are absent in 1 patient with serious autism. MRI revealed non-specific changes (4 cases), “tiger eyes” to 6 years (1 case). Epilepsy occurs in 100% of cases: West syndrome (1 case), Lennox-Gastaut syndrome (1 case), focal epilepsy with asymmetric tonic attacks (1 case), febrile-provoked generalized tonic-clonic seizures (2 cases). Remission of more than 1 year was achieved in 4 patients out of 5. EEG patterns are: gypsarhythmia with transformation into CSWS (1 case), multiregional epileptiform activity with predominance in the frontal areas (3 cases), regional epileptiform activity in the frontal area (1 case). Starting therapy with basic anticonvulsants was effective up to 100% (3 cases), hormone therapy (1 case), seizures not stopped, polytherapy (1 case). Interictal epileptiform activity was completely blocked in 2 cases; in the remaining patients, it was transformed into benign epileptiform discharges of childhood (3 cases).

Conclusion: Epilepsy is found in 100% of cases. Convulsions were arrested in 80% with baseline anticonvulsants. Epileptiform activity on EEG is blocked in 40%, transformation into benign epileptiform discharges of childhood in 60%. Thus, epilepsy has a favorable prognosis.

References: 1. K. Yu. MukhinBenign epileptiform discharges of childhood and associated conditions https://doi.org/10.17650/2073-8803-2018-13-3-7-24 2. Gregory A, Kurian MA, Haack T, et al. Beta-Propeller Protein-Associated Neurodegeneration. 2017 Feb 16. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK424403/

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MDS Abstracts - https://www.mdsabstracts.org/abstract/5-cases-static-encephalopathy-of-childhood-with-neurodegeneration-in-adulthood-omim-300894-in-children/