Dados do Trabalho

Título

FIRST CASE OF USE OF CERLIPONASE ALFA IN A CHILD WITH NEURONAL CEROID LIPOFUSCINOSIS TYPE 2 IN BAHIA

Apresentação do caso

Female patient, 04 years and 10 months old, daughter of consanguineous marriage, consults neuropediatric in 2018 with a 1 year history of seizures lasting less than 5 minutes, in which she woke up, staring, without interaction and with postictal imbalance. A 2017 cranial magnetic resonance imaging (MRI) showed alterations in the periventricular white matter and in the subcortical area of the occipital lobes. She was treated with different antiepileptics drugs, achieving seizure control with high dose oxcarbazepine in 2018.
At the time, she had ataxic gait with tremors, needing support; language limited to monosyllabic and punctual speeches; and low visual capacity.
Whole exome sequencing showed a homozygous pathogenic variant in the TPP1 gene, diagnosing Neuronal Ceroid Lipofuscinosis type 2 (CLN2). Thus, in October 2018, cerliponase alfa 150 mg was started, in 2 vials, biweekly, after neurosurgical insertion of an intraventricular device.
She evolved with improvement in horizontal nystagmus, good communicative interaction and normal motor development, absence of speech, global hyperreflexia, clonus in the lower limbs and thumbs in adduction. In addition, she has an important cortical visual impairment. A 2021 cranial MRI shows cerebellar and cerebral atrophy. Now, she still uses cerliponase alfa, besides oxcarbazepine, levetiracetam, sodium valproate and clobazam.

Discussão

CLN2 is a rare genetic disease of autosomal recessive inheritance, characterized by the deposit of lipid content within neuronal lysosomes due to tripeptidyl peptidase 1 (TPP1) deficiency. The main symptoms are seizures and progressive motor dysfunction and visual loss starting in childhood.
Lately, enzyme replacement therapy with cerliponase alfa (recombinant form of TPP1) has gained prominence as a potential modifier of disease progression. Studies that followed patients using biweekly cerliponase alfa administered via an intraventricular device showed a slower decline in motor and language functions in a short and long term. This case showed considerable delay in the disease progression, despite erratic drug usage, as the family relied on traveling to another city for administration, highlighting its potential.

Comentários finais

Cerliponase alfa is the first specifically targeted pharmacological treatment to CLN2. It was associated with a reduction in the rate of decline in motor and language functions, as evidenced in the present report of the first patient to use this treatment through the SUS in Bahia.

Referências (se houver)

Palavras Chave

Lysosomal Storage Diseases. Neurodegenerative Diseases. Neuronal ceroid lipofuscinoses.

Fonte de Fomento (se houver)

Declaração de conflito de interesses de TODOS os autores

The authors declare that there are no conflict of interest.

Área

Neurogenética