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Título

CASE REPORT OF DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25

Apresentação do caso único

Epileptic Encephalopathy is a heterogeneous group of epileptic syndromes, mainly with a genetic etiology, whether a dominant or recessive pattern. Developmental and Epileptic Encephalopathy 25 (DEE25) is caused by an autosomal recessive mutation in the SCL13A5 gene, which encodes a sodium-dependent citrate transporter of cell membrane, that is largely expressed in nervous system and liver. DEE25 presents as a condition similar to Kohlschütter-Tönz Syndrome, which is associated with drug-resistant epilepsy, developmental delay and dental changes, but without mutation in ROGDI gene.
Non-systematic review of the literature and review of the patient's medical records.

Discussão

Male patient, 3 years old. Consanguineous parents. Born at term, twin pregnancy, but one twin was aborted in the first trimester. No complications in the maternity ward and during the early neonatal period. In the later neonatal period was started vigabatrin due to infantile spasms type seizures. At six months of age, he began a pattern of bilateral tonic-clonic and asymmetric tonic seizures, affecting the upper limbs, associated with blinking and oral movements. Sister with autism spectrum disorder, history of epilepsy and intellectual disability in the family, besides death of two children due to epilepsy. At time, he presented little interaction with the examiner, poor smiling, no gait, axial hypotonia with appendicular spasticity, global hyperreflexia and clonus, choreoathetoic movements in the upper limbs, shorts and spaced teeth. Currently using Levetiracetam, Topiramate, Clonazepam and progressing to Cannabidiol to control epilepsy, in addition to baclofen. The patient showed a great improvement in the adaptative skills, reducing seizures and the involuntary movements. A genetic investigation was carried out with an epilepsy and ataxia panel, which revealed an autosomal recessive mutation in the SLC13A5 gene leading to the diagnosis of DEE25.

Comentários finais

Genetic diagnosis is important for genetic counseling, mainly due to this rich family history, in addition to evaluating the patient's prognosis and envisioning more specific and effective therapeutic possibilities in these cases. With the use of canabidiol, the paciente presented significant improvement in involuntary movements, control of epilepsy and social interaction. Evidencing a therapeutic possibility for similar cases.

Referências

1. De Souza, C. M., Souza, J., Furtado, C. M. G., Cleto, J. L. T., Antoniuk, S. A., Raskin, S. Kohlschutter-Tonz syndrome in siblings without ROGDI mutation. Oral Health Dent. Manag. 13: 728-730, 2014. [PubMed: 25284547, related citations]
2. Hardies, K., de Kovel, C. G. F., Weckhuysen, S., Asselbergh, B., Geuens, T., Deconinck, T., Azmi, A., May, P., Brilstra, E., Becker, F., Barisic, N., Craiu, D., and 15 others. Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia. Brain 138: 3238-3250, 2015. [PubMed: 26384929, related citations] [Full Text]
3. Schossig, A., Bloch-Zupan, A., Lussi, A., Wolf, N. I., Raskin, S., Cohen, M., Giuliano, F., Jurgens, J., Krabichler, B., Koolen, D. A., Sobreira, N. L. M., Maurer, E., Muller-Bolla, M., Penzien, J,. Zschocke, J., Kapferer-Seebacher, I. SLC13A5 is the second gene associated with Kohlschutter-Tonz syndrome. J. Med. Genet. 54: 54-62, 2017.
4. Thevenon, J., Milh, M., Feillet, F., St-Onge, J., Duffourd, Y., Juge, C., Roubertie, A., Heron, D., Mignot, C., Raffo, E., Isidor, B., Wahlen, S., and 18 others. Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life. Am. J. Hum. Genet. 95: 113-120, 2014.

Palavras Chave

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25; SCL13A5; cannabidiol