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<p>Neuronal Ceroid Lipofuscinosis 11 (CLN11) is an ultra-rare subtype of adult-onset Neuronal Ceroid Lipofuscinosis. Its phenotype is variable and not fully known. A 21-year-old man was evaluated in our neurogenetic outpatient clinic for early onset complex phenotype, including learning difficulties, cerebellar ataxia, cone-rod dystrophy, epilepsy, and dystonia. The patient was submitted to neurological and neuropsychological assessment, neuro-ophthalmological tests, brain MRI, EEG and whole exome sequencing. A homozygous frameshift variant (NM_002087.4: c.768_769dup; p.Gln257Profs*27) was found. Distinct type descriptions, as in this case, increase the clinical spectrum of the disease.</p>

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Neuronal ceroid lipofuscinosis 11 (CLN11) presenting with early-onset cone-rod dystrophy and learning difficulties

  • 期刊论文

  • 发表日期：

    2025年1月15日

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  • Gustavo Maximiano-Alves,
  • Renata do Amaral Moreto Caravelas,
  • Trajano Aguiar Pires Gonçalves,
  • Kelvin Ferrari Corniani,
  • Júlio Cesar Nather,
  • Camila Vasconcelos Geraldi-Tomaselli¹,
  • Rodrigo Siqueira Soares Frezatti,
  • Regina Maria França Fernandes,
  • Antônio Carlos dos Santos,
  • Wilson Marques,
  • Pedro José Tomaselli

摘要

Neuronal Ceroid Lipofuscinosis 11 (CLN11) is an ultra-rare subtype of adult-onset Neuronal Ceroid Lipofuscinosis. Its phenotype is variable and not fully known. A 21-year-old man was evaluated in our neurogenetic outpatient clinic for early onset complex phenotype, including learning difficulties, cerebellar ataxia, cone-rod dystrophy, epilepsy, and dystonia. The patient was submitted to neurological and neuropsychological assessment, neuro-ophthalmological tests, brain MRI, EEG and whole exome sequencing. A homozygous frameshift variant (NM_002087.4: c.768_769dup; p.Gln257Profs*27) was found. Distinct type descriptions, as in this case, increase the clinical spectrum of the disease.