Autopsy Findings in

Introduction: Homozygous mutations in the Case Report: A 4.5-month-old boy presented with global developmental delay and progressively worsening floppiness of the body for the past 2 months. There was a history of similar illness in his previous sibling, who died at 2.5 months of age. The serum creatine kinase of the index child was mildly elevated. Antemortem muscle biopsy had revealed the presence of neurogenic atrophy. Peripheral blood count revealed persistent lymphopenia (ALC range: 1,270/μL to 2,482/μL). The child developed severe respiratory distress and succumbed to his illness at 5 months of age. The autopsy revealed the atrophy of cerebellar folia with a striking reduction of Purkinje and granular cells and preserved molecular layer. There was thinning of the corpus callosum and anterior horn cell degeneration in the spinal cord. Lung examination demonstrated fibrinous bronchitis, bronchiolitis, and pneumonia; a result of adenovirus infection confirmed by electron microscopy and PCR. The thymus was absent. Genetic testing identified a homozygous mutation in the Conclusion: This is the first autopsy description of CONDCA with detailed neuropathological evaluation. Although cerebellar atrophy is well known, this case reveals a wider neuropathological change and thymic aplasia in such patients. This case highlights the structural consequences of the