323 Late infantile neuronal ceroid lipofuscinosis masquerading as spinocerebellar ataxia

• Published in: Archives of disease in childhood 2022-08, Vol.107 (Suppl 2), p.A220-A220
• Main Authors: Effandie, Ezyana, Ch’ng, Gaik-Siew, Ami, Malisa, Zaki, Faizah Mohd, Ghafar, Adibah Abdul, Wong, Sau Wei
• Format: Article
• Language: English
• Subjects: Abstracts; Ataxia; Atrophy; Cerebellum; Chromosomes; Differential diagnosis; EEG; Electroencephalography; Firing pattern; Genetic screening; Magnetic resonance imaging; Neuroimaging; Neurology; Neuronal ceroid lipofuscinosis; Next-generation sequencing; Patients; Pediatrics; Phenotypes; Substantia alba
• ISSN: 0003-9888; 1468-2044
• DOI: 10.1136/archdischild-2022-rcpch.352

AimsAtaxia is a rare initial presentation of Late Infantile Neuronal Ceroid Lipofuscinosis (LICNL). The majority of patients present with progressive neurological decline. This case report aims to share a case we have encountered and to enlighten clinicians that LINCL should be part of the differential diagnosis in patients presenting with ataxia. Further investigations which include fundoscopy examination, MRI brain, and genetic testing are required to confirm the diagnosis.MethodsThis is a case presentation of a patient seen in a neurology outpatient clinic who was co-managed with multiple teaA thorough history was obtained and clinical examinations were done. The patient underwent blood, radiological, and electroencephalogram investigations to attain his diagnosis.Abstract 323 Figure 1ResultsOn examination, he showed upper motor neuron signs. Ophthalmological examination revealed the absence of perception of light bilaterally. Funduscopy revealed pale optic discs, retinal vascular attenuation, and atrophic macula with the appearance of bull’s eye maculopathy bilaterally. Autofluorescence imaging was abnormal which showed a ring of hyper fluorescence surrounding both foveae (figure 1).Electroencephalogram with photic stimulation at 1-3 Hz flash frequencies during electroencephalography resulted in single flash per flash response, high amplitude spike slow-wave discharges (figure 3).MRI brain done 3 years ago showed bilateral symmetrical periventricular and deep white matter T2 hyperintense along with generalised cerebellar atrophy (figure 2).Abstract 323 Figure 2ConclusionThe diagnosis of Late infantile neuronal ceroid lipofuscinosis relies on the characteristic clinical presentation, electrophysiological, and neuroradiological findings. Next-generation sequencing revealed novel likely pathogenic compound heterozygous mutations c.1222_1224del (p.Ser408del) and c.679T>C (p.Cys227Arg) on opposite chromosomes and inherited from both parents. This could explain the phenotype of this patient. Early diagnosis is important to optimize clinical care and improve outcomes; however, delays are common due to nonspecific clinical presentation