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Unusual thalamic inclusions in an infant with progressive neurologic dysfunction and blindness
U E Anwer1, T W Smith, U DeGirolami
1Department of Pathology (Neuropathology), University of Massachusetts Medical Center, Worcester 01655.
Insights
A rare pediatric neurologic disorder caused severe developmental delays and neurological deficits. Neuropathology revealed unique intracytoplasmic inclusions in the thalamus, suggesting a possible glycolipid storage disease.
Area of Science:
- Neurology
- Pediatric Neurology
- Neuroscience
- Pathology
Background:
- Progressive neurologic disorders in infants can present with complex symptoms.
- Accurate diagnosis is crucial for understanding disease mechanisms and potential treatments.
- Neuronal storage diseases are a group of metabolic disorders affecting the nervous system.
Observation:
- A 25-month-old boy presented with a severe, progressive neurologic disorder starting at two months of age.
- Clinical manifestations included seizures, blindness, partial deafness, and severe hypotonic quadriparesis.
- Neuropathologic examination revealed specific intracytoplasmic neuronal inclusions exclusively in the thalamus.
Findings:
- The neuronal inclusions exhibited histochemical staining characteristics of a glycolipid.
- Inclusions were autofluorescent and ultrastructurally composed of concentric/parallel double membranes and curvilinear profiles.
- These unique pathological findings suggest a potential glycolipid storage disorder, possibly related to neuronal ceroid lipofuscinosis.
Implications:
- This case presents a unique neuropathological profile not previously reported in the literature.
- The findings expand the spectrum of known pediatric neurological disorders and storage diseases.
- Further research into this specific glycolipid accumulation may elucidate novel pathomechanisms and diagnostic markers.
Abstract:
A 25-month-old boy had a progressive neurologic disorder which started at two months of age and was characterized by seizures, blindness, partial deafness and severe hypotonic quadriparesis. Neuropathologic examination demonstrated the presence of intracytoplasmic neuronal inclusions which were entirely restricted to the thalamus. The inclusions had the histochemical staining characteristics of a glycolipid, were autofluorescent, and ultrastructurally consisted of concentric and parallel arrays of double membranes and curvilinear profiles. These features suggest that the infant may have had a disorder related to neuronal ceroid lipofuscinosis. Review of the literature failed to disclose a similar case.