Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in GNR gene: case report and review of literature
Author:
Sürücü Kara İlknur1ORCID, Köse Engin12ORCID, Çavdarlı Büşranur3ORCID, Eminoğlu Fatma Tuba12ORCID
Affiliation:
1. Department of Pediatric Metabolism, Faculty of Medicine , Ankara University , Ankara , Türkiye 2. Ankara University Rare Diseases Application and Research Center , Ankara , Türkiye 3. Department of Medical Genetics , Ankara Bilkent City Hospital , Ankara , Türkiye
Abstract
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.
Publisher
Walter de Gruyter GmbH
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health
Reference16 articles.
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