Dados do Trabalho

Título

NEURONAL CEROID LIPOFUSCINOSIS TYPE 2- EARLY DIAGNOSIS IMPORTANCE FOR TREATMENT START WITH CERPOLINASE ALFA: A CASE REPORT

Apresentação do caso

Female patient, 4 years old, cousin parents. Normal development up to 3 years old, when seizures started as cephalic and ocular versions, labial commissure myoclonus, left upper limb flexion and left lower limb extension, lasting 5-6 minutes, in addition to atonic crises. An electroencephalogram showed paroxysms in the right temporal region, and a brain magnetic ressonance imaging showed cerebellar atrophy. Treatment started with levetiracetam and valproic acid. Progressed with an increase in the frequency and duration of seizures, in addition to global ataxia.

After the condition worsened, she was referred to our service for investigation. A genetic panel of epilepsies and ataxias was requested, which showed an alteration in homozygosity in the TPP1 gene, confirming the diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2). At the time of diagnosis, she scored 8/12 on the Hamburg Scale, 10/12 on the Weill Cornell scale, and 4/6 on the motor-language CLN2 scale. A court order was made the treatment with cerliponase alfa possible. This is the first patient in the Espírito Santo state who will undergo the treatment.

Discussão

CLN2 is a neurodegenerative disease of autosomal recessive inheritance, in which there is a deficiency of the enzyme tripetidyl peptidase (TPP1), generating lysosomal accumulation of ceroid lipofuscin. It manifests between 2 and 4 years of age, a period of peak expression of TPP1. The main symptoms are visual loss, seizures, ataxia, movement and language disorders. The natural course is a progressive neurological decline, with death by early adolescence. Findings such as cerebellar atrophy on neuroimaging are seen in the early stages. The gold standard for diagnosis is genetic confirmation of a mutation in the TPP1 gene or evidence of reduced or absent TPP1 activity.

Treatments proposed until then were palliative, but the development of cerliponase alfa, a recombinant TPP1 used as a proenzyme, brought new perspectives. A multicenter study published in 2018 showed a delay in the loss of motor and language functions after intraventricular administration, every 2 weeks, thus making it a promising proposal for the disease treatment.

Comentários finais

Cerliponase alpha emerged as a possibility to modify the course of a serious and fatal disease. Therefore, the importance of early CLN2 diagnosis and quick access to medication is explicit. The patient in the case is eligible for treatment and the first in the state to start using the medication.

Referências (se houver)

GERAETS, Ryan D. et al. Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis. Orphanet journal of rare diseases, v. 11, n. 1, p. 1-13, 2016.

MOLE, Sara E. et al. Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients. Orphanet journal of rare diseases, v. 16, n. 1, p. 1-19, 2021.

SCHULZ, Angela et al. Study of intraventricular cerliponase alfa for CLN2 disease. New England Journal of Medicine, v. 378, n. 20, p. 1898-1907, 2018.

Fonte de Fomento (se houver)

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Área

Neurogenética