Autopsy Neuropathology Report for AGTPBP1-Related Infantile Neurodegeneration

A 4.5-month-old boy's autopsy report details the first comprehensive pathological findings for CONDCA, a rare genetic neurodegeneration linked to AGTPBP1 gene mutation. The material includes histopathological descriptions of cerebellar atrophy, spinal cord degeneration, and systemic complications like thymic aplasia and adenovirus pneumonia. The case report and literature review were published by Karger via figshare in April 2026.

Use Cases

• Correlate homozygous AGTPBP1 gene mutation (c2833C>T) with specific neuropathological features like Purkinje cell reduction and corpus callosum thinning.
• Analyze systemic complications documented in the autopsy, such as thymic absence and adenovirus-confirmed fibrinous bronchitis, for genotype-phenotype studies.
• Review detailed histopathological descriptions of cerebellar folia atrophy and anterior horn cell degeneration to model disease progression in CONDCA.
• Compare serum creatine kinase levels and persistent lymphopenia (ALC range 1270/μL to 2482/μL) with neurogenic atrophy findings from ante-mortem muscle biopsy.

Strengths

• First detailed autopsy report for the rare CONDCA condition, providing unique neuropathological ground truth.
• Includes specific genetic mutation (AGTPBP1 c2833C>T), histopathological measurements, and laboratory values like ALC range.

Limitations

• Single case report (n=1) limits statistical power and generalizability of findings.
• Dataset scope is limited to a 317.6 KB PDF document, containing textual descriptions rather than structured, queryable data.

Provenance

Source

figshare, published by Karger.

Collection Method

Clinical case report and autopsy analysis from a single patient.

Time Range

Case report from 2026, covering the patient's lifespan and autopsy.

Freshness

Last updated April 2026, representing recent medical publication.

Geography

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