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Título

A case report on the diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2) and its follow-up in a female patient in the state of Ceará

RESUMO

Case Presentation:
Female patient, 15 years old. With normal neuropsychomotor development up to 5 years old, when she began to have seizures. A computer tomography scan of the skull was requested, which was normal. The patient progressed with limb tremors, ataxia, pyramidal syndrome, and speech difficulties. At 9 years of age, she had difficulty walking and loss of gait; the cranial resonance showed alterations in the white matter and signs of cerebral cortico-subcortical and pontine-mesencephalic atrophy. In 2016, after full exome sequencing, the diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 (NCL 2) was confirmed. In 2018, the patient started using the drug Brineura. At age 12, in 2019, she scored 1 on The Hamburg Motor and Language and CLN2 Clinical Rating Scale (motor=0 + language=1), in 2020, she scored 3 (motor=1 + language=2).

Discussion:
NLC is a group of neurodegenerative diseases with 4 types of variation and clinical and pathological classification according to age at onset of neurological symptoms, neuroradiological and pathological findings. However, the final distinction is genetic. Among them, the late infantile variant or Jansky-Bielschowsky disease starts between 2 and 4 years of age, with rapid progression. NCL2 occurs as a result of the deficiency of the lysosomal enzyme tripeptidyl-peptidase 1 (TPP1) when the gene encoding the protein expresses an error.
The usual findings are myoclonus, seizures, ataxia, difficulty walking, or progressive loss of pronunciation of words. Encephalic volumetric reduction causes a decrease in the levels of intelligence, phonation, and motor function. Speech and motor function disorders are related to the reduction in pons and bulb diameters, with cerebellar atrophy being the most prominent factor.
In the patient, manifestations ranging from seizures to changes in white matter and signs of cerebral cortico-subcortical and pontomesencephalic atrophy were found.

Final comments:
We present a case of CLN2, a very rare disease, occurring in 6: 100,000 inhabitants. Effective management and treatment of this condition require an early diagnosis. Therefore, we bring this case to encourage the investigation of CLN2 disease in children presenting seizures, loss of motor and cognitive function, or speech delay without a diagnosis.

Palavras Chave

Neuronal Ceroid Lipofuscinosis Type 2; Neurogenetics; Rare disease