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    Poster Role of Clinical Exome Sequencing

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    Ludy Arfan
    This document summarizes a case study of a 6.5-year-old girl from Indonesia who was misdiagnosed with meningitis sequelae but showed symptoms of neuronal ceroid lipofuscinosis (NCL), including dystonia, myoclonic epilepsy, microcephaly, and vision loss. Routine and secondary metabolic testing were normal. Clinical exome sequencing identified two likely pathogenic variants in the TPP1 gene consistent with NCL type 2. This genetic testing allowed for an NCL diagnosis where specialized enzyme analysis was unavailable locally due to cost and accessibility issues, demonstrating the potential for exome sequencing to diagnose neurodegenerative conditions in developing countries.

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    Poster Role of Clinical Exome Sequencing

    Uploaded by

    Ludy Arfan
    60 views1 page
    This document summarizes a case study of a 6.5-year-old girl from Indonesia who was misdiagnosed with meningitis sequelae but showed symptoms of neuronal ceroid lipofuscinosis (NCL), including dystonia, myoclonic epilepsy, microcephaly, and vision loss. Routine and secondary metabolic testing were normal. Clinical exome sequencing identified two likely pathogenic variants in the TPP1 gene consistent with NCL type 2. This genetic testing allowed for an NCL diagnosis where specialized enzyme analysis was unavailable locally due to cost and accessibility issues, demonstrating the potential for exome sequencing to diagnose neurodegenerative conditions in developing countries.

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    Poster Role of Clinical Exome Sequencing

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    This document summarizes a case study of a 6.5-year-old girl from Indonesia who was misdiagnosed with meningitis sequelae but showed symptoms of neuronal ceroid lipofuscinosis (NCL), including dystonia, myoclonic epilepsy, microcephaly, and vision loss. Routine and secondary metabolic testing were normal. Clinical exome sequencing identified two likely pathogenic variants in the TPP1 gene consistent with NCL type 2. This genetic testing allowed for an NCL diagnosis where specialized enzyme analysis was unavailable locally due to cost and accessibility issues, demonstrating the potential for exome sequencing to diagnose neurodegenerative conditions in developing countries.

    Copyright:

    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Download as pptx, pdf, or txt
    60 views1 page

    Poster Role of Clinical Exome Sequencing

    Uploaded by

    Ludy Arfan
    This document summarizes a case study of a 6.5-year-old girl from Indonesia who was misdiagnosed with meningitis sequelae but showed symptoms of neuronal ceroid lipofuscinosis (NCL), including dystonia, myoclonic epilepsy, microcephaly, and vision loss. Routine and secondary metabolic testing were normal. Clinical exome sequencing identified two likely pathogenic variants in the TPP1 gene consistent with NCL type 2. This genetic testing allowed for an NCL diagnosis where specialized enzyme analysis was unavailable locally due to cost and accessibility issues, demonstrating the potential for exome sequencing to diagnose neurodegenerative conditions in developing countries.

    Copyright:

    © All Rights Reserved
    Download as PPTX, PDF, TXT or read online from Scribd
    Download as pptx, pdf, or txt
    of 1

    ROLE OF CLINICAL EXOME SEQUENCING

    TO DIAGNOSE NCL CASE IN DEVELOPING COUNTRY


    Ali Alhadar, Moretta Damayanti, Damayanti R Sjarif
    Cipto Mangunkusumo Hospital/ Faculty of Medicine University of Indonesia, Jakarta, Indonesia
    Division of Pediatric Nutrition and Metabolic Disease, Child Health Department, University of Indonesia

    Introduction:
    The diagnosis of a Neuronal Ceroid Lipofuscinosis (NCL) is based on
    assay of enzyme activity and molecular genetic testing. However it is
    not always easy to diagnose as these test are very expensive and not
    available in our country.
    TIRM: Cerebral atrophy, periventricle
    hyperintense and ventriculomegaly

    Case: Centogene’s clinical exome sequencing (CentoDXTM plus):


     A 6.5 y.o girl referred to Jakarta from Jambi (a city in another TPP1 (NM_000391.3, sequencing)
    island) with intractable seizure. She was misdiagnosed as sequelae  Heterozygous variant c.679T>C p.(Cys227Arg)  Class 3
    of meningitis. At history taking we noticed she had progressive  Heterozygous variant c.583_584insTACA p.(Gly195Valfs*14)
    motoric regression since 2 y.o.  Class 2
     [PE]: dystonia, progressive myoclonic epilepsy, microcephaly,
    Discussion:
    spasticity, clonus, hyperreflexia, visual loss, and no organomegaly.
     TPP1 gene have two possibilities: NCL type 2 and SCA7.
    Based on these symptoms we suspected NCL type 2, dd/ dopa-
     Enzyme analysis is not avaliable in our country and very
    responsive dystonia.
    expensive to do abroad.
     Routine metabolic screening (blood sugar, ammonia level, lactate,
     Enzyme analysis have to be done to rule out SCA7.
    blood gas analysis) which can be done in our country showed up
    normal. Second tier metabolic screening (amino acid and
    Conclusion:
    acylcarnitine profile) was performed in Malaysia have normal
     We may narrow the diagnosis based on clinical pictures
    results. We also tried contacting laboratories in Germany and
    and exome sequencing.
    Australia, however the enzyme assay for NCL was unable to be
     Exome sequencing may help to diagnosis regression cases
    performed.
    faster in our country.
     She is taking antiepileptic drugs and ketogenic diet, but only
    partially responsed with Ketocal 4:1 diet. RARD 2108, New Delhi

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