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Neuronal ceroid lipofuscinosis (NCL) diagnosis in children can be challenging. Early cerebellar atrophy on CT scans may indicate NCL before cognitive decline or vision loss.
Area of Science:
- Neurology
- Pediatrics
- Medical Imaging
Background:
- Neuronal ceroid lipofuscinosis (NCL) comprises a group of inherited neurodegenerative disorders.
- Diagnosis typically relies on clinical signs like seizures, dementia, and retinal changes, confirmed by biopsy.
- Identifying NCL early is crucial for potential interventions.
Observation:
- Two pediatric patients presented with new-onset seizures.
- Computed tomography (CT) scans were performed before significant intellectual deterioration or retinal changes were evident.
- CT imaging revealed distinct cerebellar atrophy and enlarged fourth ventricle, without widespread cerebral atrophy.
Findings:
- The observed cerebellar atrophy and ventricular enlargement represent potential early radiological markers for NCL.
- These specific CT findings appeared prior to the classic diagnostic indicators of dementia and retinal pathology.
- This suggests a distinct pattern of neurodegeneration in the early stages of childhood NCL.
Implications:
- CT findings of cerebellar atrophy may aid in the earlier diagnosis of NCL in children presenting with seizures.
- Integrating neuroimaging into the diagnostic pathway could improve detection rates.
- Further research is warranted to validate these imaging findings as reliable early biomarkers for NCL.
Abstract:
The diagnosis of the childhood forms of neuronal ceroid lipofuscinosis is considered when a child presents with seizures, dementia, and pigmentary change in the retina. A diagnosis is based on the result of skin or conjunctival biopsy. We report two children who had CTs obtained at the onset of seizures and prior to the occurrence of intellectual deterioration or retinal pigmentary changes. In both cases, the CT showed marked enlargement of the fourth ventricle and cerebellar atrophy without concomitant cerebral atrophy. We suggest that this cerebellar atrophy may be an early sign of ceroid lipofuscinosis and may be of particular note when seen on the CT scan of a child with a recent onset of seizures.