Neuronal ceroid lipofuscinosis type 1: a case report

Case presentation: M.I.L.S, female, 7 years old, daughter of consanguineous parents. The mother reports that the child was healthy until she was 5 years old, when she started having episodes of frequent falls and myoclonic crises, lasting less than 1 minute, without loss of consciousness, cyanosis or sphincter release. After these episodes, there was regression in neuropsychomotor development, progressive weakness in lower limb, reduced speech, and dysphagia. She was sent to a child neurologist for investigation. On physical examination, cognitive loss (does not form sentences and does not understand commands), proximal weakness, patellar reflex: +3, radial reflex: +2, positive Babinski and absence of cutaneous-abdominal reflex were evidenced. In the service, an MRI of the skull was done, which showed encephalic volumetric reduction. Accordingly, a genetic panel for epilepsy was conducted, which confirmed the diagnosis of neuronal ceroid Lipofuscinosis (NCL) type 1.

Discussion: Neuronal ceroid Lipofuscinosis constitutes a group of neurodegenerative diseases with autosomal recessive inheritance, characterized by abnormal accumulation of autofluorescent lipopigment substance within the lysosomes of neurons and other cells, being the leading cause of dementia in childhood. The diagnosis of NCL can be challenging due to the variety of described phenotypes of the disease, which differ according to genetic involvement (NCL1- NCL14). The patient in the case reported has NCL1. The genetic investigation was done aiming the diagnosis as a treatment definer, because there is a treatment available for NCL2 with the enzyme replacement of cerliponase α. In addition, there are studies in clinical phase of treatment, such as enzyme replacement therapy (NCL1 and NCL2), stem cell therapy (NCL1, NCL2, and NCL8), gene therapy (NCL1, CLN2, NCL3, NCL5, NCL6, NCL7, NCL10, and NCL11), and pharmacological treatment (NCL1, NCL2, NCL3, and NCL6).

Final comments: Due to the clinical picture, a genetic panel for epilepsy was performed, aiming to confirm the diagnosis of type 2 NCL and initiate treatment. However, the test revealed type 1 NCL. Although this disease has no specific treatment, the diagnosis elucidated the patient's prognosis and aided genetic counseling of her parents, as well as ensuring palliative care.

 

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Artikel online veröffentlicht:
18. September 2023