Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in GRN gene: case report and review of literature
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İlknur Sürücü Kara
,
Engin Köse
,
Büşranur Çavdarlı
und
Fatma Tuba Eminoğlu
Abstract
Objectives
Neuronal ceroid lipofuscinosis type 11 (NCL11) is a rare disease that presents with progressive cognitive decline, epilepsy, visual impairment, retinal atrophy, cerebellar ataxia and cerebellar atrophy. We present herein a case of NCL11 in a patient diagnosed with neuromotor developmental delay, epilepsy, bronchiolitis obliterans and hypothyroidism.
Case presentation
A 4-year-old male patient was admitted to our clinic with global developmental delay and a medical history that included recurrent hospitalizations for pneumonia at the age of 17 days, and in months 4, 5 and 7. Family history revealed a brother with similar clinical findings (recurrent pneumonia, hypothyroidism, hypotonicity, swallowing dysfunction and neuromotor delay) who died from pneumonia at the age of 22 months. Computed tomography of the thorax was consistent with bronchiolitis obliterans, while epileptic discharges were identified on electroencephalogram with a high incidence of bilateral fronto-centro-temporal and generalized spike-wave activity but no photoparoxysmal response. Cranial MRI revealed T2 hyperintense areas in the occipital periventricular white matter and volume loss in the white matter, a thin corpus callosum and vermis atrophy. A whole-exome sequencing molecular analysis revealed compound heterozygous c.430G>A (p.Asp144Asn) and c.415T>C (p.Cys139Arg) variants in the GRN gene.
Conclusions
The presented case indicates that NCL11 should be taken into account in patients with epilepsy and neurodegenerative diseases.
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Research ethics: The local Institutional Review Board deemed the study exempt from review.
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Informed consent: Written informed consent was obtained from all parents and guardians.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no conflict of interest.
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Research funding: None declared.
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Data availability: The raw data can be obtained on request from the corresponding author.
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© 2024 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
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Artikel in diesem Heft
- Frontmatter
- Editorial
- Insulin for “hearts that had lost hope” – on the first pediatric patients and the 1923 Nobel Prize in Physiology or Medicine
- Reviews
- The effect of gonadotropin-releasing hormone analog treatment on the endocrine system in central precocious puberty patients: a meta-analysis
- Artificial intelligence in paediatric endocrinology: conflict or cooperation
- Original Articles
- A pilot study proposing an algorithm for pubertal induction in cerebral palsy
- Thyroid volume in Turkish school-age children living in an iodine-sufficient region
- Hypothyroxinemia and weight velocity in preterm infants
- Factors associated with neonatal hyperinsulinemic hypoglycemia, a case-control study
- Predictive factors for lung metastasis in pediatric differentiated thyroid cancer: a clinical prediction study
- Case Reports
- Two Turkish patients with Primary Coenzyme Q10 Deficiency-7: case report and literature review
- Hereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration
- A case report of odonto-hypophosphatasia with a novel variant in the ALPL gene
- Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in GRN gene: case report and review of literature
- Diagnosis and approach of pseudohypoparathyroidism type 1A and related disorders during long term follow-up: a case report
