Hannagala Gamage Hiruni Udara¹, Kankananarachchi I¹, Munasinghe TM¹, Madhushani KHP¹, Ruwanpathirana UM¹, Dharmasiri BKGSS¹
1- National Hospital Galle, Sri Lanka
Corresponding Author:
Hannagala Gamage Hiruni Udara (
hghiruniudara@gmail.com)
Abstract Body
Introduction: Niemann–Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder, commonly due to NPC1 gene mutations. The condition is characterised by progressive neurodegeneration with variable systemic involvement, frequently resulting in delayed diagnosis. We report the case of a young boy with NPC who was referred primarilybecause of declining school performance.
Case presentation: A 7-year-old boy , born to 3rd degree consanguineous parents was referredto paediatrician for further evaluation of poor school performance. His early development was appropriate however subtle neurodevelopmental regression became evident between 5 - 6 years of age. Presenting features included gait abnormalities, recurrent falls, clumsiness and impaired comprehension. There was no history of neonatal jaundice or seizures. Examinationrevealed microcephaly , dysarthria, vertical supranuclear gaze palsy , mild ataxia, moderate splenomegaly , mild hepatomegaly . Cherry – red spots were absent. Cognitive assessment showed a fluid IQ of 56. Full blood count and EEG were normal. Bone marrow biopsy demonstrated foamymacrophages and sea-blue histiocytes. Biomarkers supportive of NPC were markedly elevated; serum Chitotriosidase - 2424 μmol/hr/ml (reference 9–50) and CCL18 - 219.02 ng/mL (reference 1–72). MRI brain and genetics are awaited. The child shows gradual neurodevelopmental regression and is receiving multidisciplinary supportive care. Arrangements are currently underway to initiate Miglustat, a substratereduction therapy , which is not readily available locally .
Conclusion: This case highlights poor academic performance as an early and easily overlooked presentation of NPC and underscores the challenges in timely diagnosis and access to disease-specific therapy in resource-limited settings.