Neuronal ceroid lipofuscinosis (CLN) 7 typically presents with motor and cognitive decline, seizures (myoclonus) and vision loss. Atypical manifestations such as, ataxia, Rett-like findings, microcephaly, personality disorders, extrapyramidal symptoms, stereotypical hand movements and autistic behaviors had been reported. A 7-year-old male patient referred with the diagnosis of sepsis and a medical history of afebrile seizure at the age of 3 years, and sleep problems and aggressive behavior at the age of 4 years. Dance-like movements were noted in his arms and legs. Laboratory tests identified elevated creatine kinase, and diffuse acanthocytes in a peripheral blood smear. A genetic analysis for chorea-acanthocytosis was conducted but no pathogenic variant was detected in the VPS13A gene. A homozygous deletion in the MFSD8 gene was detected with whole exome sequencing. Upon the initiation of treatment for the septic shock, the CK level regressed to normal value and the acanthocytes in the peripheral blood smear disappeared. Acanthocytosis and rhabdomyolysis were attributed to sepsis. This report suggest that CLN7 should be kept in mind in neurodegenerative findings with similar clinical findings and in the presence of choreo-athetotic movements.
Keywords: Chorea-acanthocytosis; Neuronal ceroid lipofuscinosis 7; Rhabdomyolysis.
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