Neuronal ceroid lipofuscinosis: A case report

Authors

  • Gopen Kumar Kundu Department of Pediatrics Neurology, IPNA, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh
  • Masuma Akhter Department of Paediatric Neurology, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh
  • Sanjida Ahmed Department of Paediatric Neurology, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh
  • Bishnu Pada Dey Department of Pathology, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh
  • Shah Noor Hassan Department of Ophthalmology, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh

DOI:

https://doi.org/10.3329/bsmmuj.v16i3.68255

Keywords:

neuronal ceroid lipofuscinosis, skin biopsy, lysosomal storage disease

Abstract

Neuronal ceroid lipofuscinoses (NCL) represent severe neurodegenerative conditions which is one of the lysosomal storage disorders. There are four main clinical forms of NCL among which late infantile variety is the second most common condition. Here, we discuss a case concerning a boy aged 5 years and 4 months who exhibited a continuous decline in cognitive and motor functions starting from the age of 4. As the disorder advanced, he experienced gradual deterioration of his eyesight, unsteady walking and myoclonic seizures. An electroencephalogram performed on the child demonstrated widespread instances of sharp and slow wave discharges alongside a slowed background activity. Magnetic resonance imaging revealed extensive cerebral and noticeable cerebellar degeneration. A skin biopsy extracted from the armpit area displayed distinctive eosinophilic inclusions within the cells and structures in the eccrine ducts which stained positively for periodic acid-Schiff. These findings indicated a possibility of neuronal ceroid lipofuscinoses.

Bangabandhu Sheikh Mujib Medical University Journal 2023;16(3): 174-177

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Published

2023-09-27

How to Cite

Kundu, G. K. ., Akhter, M. ., Ahmed, S., Dey, B. P. ., & Hassan, S. N. . (2023). Neuronal ceroid lipofuscinosis: A case report. Bangabandhu Sheikh Mujib Medical University Journal, 16(3), 174–177. https://doi.org/10.3329/bsmmuj.v16i3.68255

Issue

Section

Case Report

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