Brain Pathology in Terminal Deletion of Chromosome 4 (4q- Syndrome): A Case Report

Background/objectives: To report the complete neuropathologic description of an infant with terminal deletion q31-q35 of chromosome 4 (4q- syndrome), because much published work has been devoted to the genetics of 4q- syndrome and almost nothing to its neuropathology. Most patients with 4q31-4q35 deletion have suggestive phenotypic features and moderate to severe developmental and language delay; rare patients with autistic behavior and facioscapulohumeral muscular dystrophy have been associated with small deletions limited to 4q31 and 4q35, respectively. Materials and methods: Clinically, the patient reported here had severe hypotonia, poor respiratory and feeding autonomy, and undescribed drug-resistant seizures from the first days of life until death at one year of age. A comprehensive neuropathologic examination of the brain was completed with a late muscle biopsy. Results and conclusions: The callosal dysgenesis, paucity of cortical neurons and subependymal germ cells, cerebral and cerebellar neuronal heterotopies, and suggestive muscular findings in this new patient may broaden the understanding of the clinical features.