We present exceedingly rare cases of leukoencephalopathy due to SDHAF1-related mitochondrial complex II deficiency in identical twins. These findings contribute to the scarcity of reports present in both the radiology literature and the medical literature describing imaging characteristics associated with this condition. Like other mitochondrial disorders affecting the CNS, this disease typically presents in infants or young children with symptoms of weakness, hypotonia, and developmental regression. However, the imaging findings of SDHAF1-related mitochondrial complex deficiency in this pair of patients are unique and include symmetric white matter diffusion restriction most pronounced in the genu and splenium of the corpus callosum with sparing of the body. We propose that the specific imaging findings described in this report may be considered pathognomonic and may therefore be added to the list of previous neuroimaging findings associated with this entity. Recognition of this distinctive pattern by radiologists would allow for a prospective diagnosis on imaging that can then be confirmed with genomic testing and magnetic resonance spectroscopy analysis.
Objective: To describe a classic case of asymptomatic trans-anal ventriculoperitoneal shunt extrusion and its diagnostic radiographic findings. Materials and Methods: A 28-month-old boy with distal ventriculoperitoneal shunt extrusion is presented, including clinical presentation, imaging findings, and surgical management. Results: Despite catheter protrusion from the anus, the patient remained clinically stable. Abdominal radiography demonstrated a looped intraluminal course of the distal catheter extending below the pubic symphysis, diagnostic of bowel perforation and migration. Laparoscopy confirmed transverse colon perforation. The ventriculoperitoneal shunt was removed, the bowel was repaired, and recovery was uneventful. Conclusion: Recognition of intraluminal pelvic looping of a ventriculoperitoneal shunt catheter on plain radiography mandates urgent surgical intervention.
Intramedullary spinal cord abscesses are uncommon, with only a few documented cases. They typically present with lower-limb neurological symptoms and signs of sepsis, often leading to misdiagnosis, particularly in children, where symptoms may be atypical. The present case report details the distinctive presentation of a 4-year-old boy with recurrent urinary tract infections who subsequently developed lower-limb weakness. Initially, his symptoms were attributed to recurrent urinary tract infections, delaying neurological evaluation. However, magnetic resonance imaging revealed a diffuse intramedullary spinal cord abscess extending from the cervical to lumbar regions, linked to an S2-S3 congenital dermal sinus tract. These uncommon congenital dermal sinus tracts promote infections, often leading to overlooked abscess formation in children. Magnetic resonance imaging confirmed whole-spine involvement and follow-up imaging revealed significant resolution with residual fibrotic changes.
