Neuronal ceroid lipofuscinosis: what you need to know. case report and literature review
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Abstract
Introduction: Neuronal ceroid lipofuscinoses (NCL) are a group of neurodegenerative diseases caused by the accumulation of lipofuscin in lysosomes. They present a varied and non-specific clinical picture, with the main manifestations: decline in cognitive and motor development, visual loss, epilepsy and early death. LCN are considered the main cause of childhood progressive encephalopathy. There are currently 14 subtypes of LCN with 13 genes, because the existence of LCN9, which is not genetically defined, is questioned. Among these pathogenic variants in MFSD8 cause Neuronal Ceroid Lipofuscinosis type 7 (LCN7). Objective: To report the evolution of a patient diagnosed with lipofuscinosis type 7, review the topic and suggest an investigation flowchart for non-experts. Case report: Male patient, consanguineous parents, referred at the age of 4 years and 8 months to the Child Neurology service to evaluate developmental regression characterized by visual loss, spastic tetraparesis and trunk ataxia. Diagnostic investigation showed positive research for the inclusion of lipofuscin in lymphocytes, confirming the diagnosis of LCN. Subsequently, molecular research showed homozygosity of MFSD8, establishing the diagnosis of LCN7. Discussion: The combination of neurological regression associated with visual loss and epilepsy is the classic clinical presentation. Pediatricians and pediatric neurologists should suspect LCN in patients with developmental regression aiming at multidisciplinary therapeutic management and genetic counseling. LCN7, considered a rare type of LCN initially described in the Turkish population, however, has a global distribution. Early diagnosis, especially for type 2 NCL, is important, as there is currently a specific treatment.
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