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Case report
Ref Number: APCP-PP-178

A Case of Rare Leukodystrophy of ASPA Gene Mutation

R.D.Piyumika Jayawickrama¹, Sumanasena S², Vipulaguna D¹, Dalpadadu K¹, De Silva D², Athapattu T², Rathnayake P³, Karunathilake Kkglrad¹, Jayasooriya Jmsk¹, Pitumali Dms¹, Sholani Thds¹
1- Colombo North Teaching Hospital, Sri Lanka 2- Faculty of Medicine, University of Kelaniya, Sri Lanka 3- Lady Ridgeway Hospital for Children, Sri Lanka
Corresponding Author: R.D. Piyumika Jayawickrama (deshanipiyumika@gmail.com)
Abstract Body
Introduction: Canavan disease is a rare autosomal recessive leukodystrophy caused by mutations in the ASPA gene, causing accumulation of N-acetyl aspartic acid and diffuse white matter degeneration. Case presentation: Master A , presented at one year three months of age with developmental regression. He was born at term to non-consanguineous healthy parents with normal development until four months, after which he developed bronchopneumonia complicated by meningitis. Following this , there was progressive loss of milestones. He had macrocephaly with preserved growth parameters, significant irritability , minimal visual interaction due to cortical visual impairment but showed auditory esponsiveness. There were minimal social interactions, absence of reaching or grasping . There was marked dystonia and hypertonia of all four limbs, partial head control, and was unable to sit with support. He had normal hematological parameters and negative metabolic screening. EEG demonstrated an immature background for age. MRI brain revealed markedly delayed myelination with involvement of the posterior limb of the internal capsule, posterior corpus callosum, and globus pallidi. Ophthalmological evaluation showed bilateral early optic atrophy .USS abdomen was normal.Whole exome sequencing identified a likely pathogenic heterozygous frameshift termination mutation in the ASPA gene, with autosomal recessive inheritance. The baby was restarted on antispastic medications with gradual dose escalation and enrolled in early intervention including cortical visual impairment–specific therapy and orthotic support. Conclusion: This case highlights the importance of early recognition, genetic confirmation, andmultidisciplinary rehabilitation in neurodegenerative leukodystrophies, with appropriate family counselling despite limited disease-modifying treatment options.
Keywords: Rare leukodystrophy; Gene mutation; Aspa gene
Presentation Type: Case report
Disclaimer: The Views and opinions expressed in the articles are of the authors and not of the journal.
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