Spinal Nerve Roots Abnormalities on MRI in a Child with SURF1 Mitochondrial Disease

Variants in SURF1, encoding an assembly factor of mitochondrial respiratory chain complex IV, cause Leigh syndrome (LS) and Charcot-Marie-Tooth type 4K in children and young adolescents. Magnetic resonance imaging (MRI) appearance of enlarged nerve roots with postcontrastographic enhancement is a distinctive feature of hypertrophic neuropathy caused by onion-bulb formation and it has rarely been described in mitochondrial diseases (MDs). Spinal nerve roots abnormalities on MRI are novel findings in LS associated with variants in SURF1. Here we report detailed neuroradiological and neurophysiologic findings in a child with LS and demyelinating neuropathy SURF1-related. Our case underlines the potential contributive role of spinal neuroimaging together with neurophysiological examination to identify the full spectrum of patterns in MDs. It remains to elucidate if these observations remain peculiar of SURF1 variants or potentially detectable in other MDs with peripheral nervous system involvement.

Langerhans Cell Histiocytosis of the Thoracic Spine in an Adult Presenting as Thoracic Radiculopathy

A 35-year-old man complained of right truncal pain around T7-8 dermatomal distribution and on examination, T7-8 spinal tenderness was observed. Magnetic resonance imaging showed osteolytic mass in T8 vertebral body without structural lesions involving spinal nerve roots. Dermatomal somatosensory evoked potentials (DSEP) were helpful in diagnosis with thoracic radiculopathy. Finally, Langerhans cell histiocytosis was confirmed in bone biopsy. Thoracic radiculopathy can be caused by various etiologies including bone tumor and DSEP is useful supplementary tool for diagnosing thoracic radiculopathy.

Spinal Perineural Cysts among European Patients

Background A perineural (Tarlov) cyst is a fluid-filled lesion occurring between the perineurium and the endoneurium of spinal nerve roots. The aim of the study was to evaluate the prevalence and morphology of perineural cysts, detected incidentally in patients with symptomatic degenerative disk disease. Materials/methods The study was based on the retrospective data gathered during magnetic resonance imaging (MRI) examinations. Results and Conclusions Out of 3,128 spinal MRI examinations, perineural cysts were detected in 286 patients (9%). The cysts were most commonly observed in the sacral region, followed by thoracic, cervical, and lumbar regions. Cysts were more common in women than in men and the average age of patients was 54.8 years. In the majority, a single cyst was found. The average longest dimension of the lesion was 11.72 mm.

Calving-related intradural avulsion injuries of the thoracolumbar spinal nerve roots in a calf

Calving difficulty may lead to traumatic peripheral nerve injury. A male, 8-mo-old, Japanese Black calf with a history of secondary dystocia as a result of fetal gigantism had lameness and gait disturbance. At autopsy, multifocal dural thickening with adhesions to the adjacent spinal cord was observed at T12–13 and L4–5 vertebral levels. Microscopically, numerous traumatic neuroma-like fascicles of nerve twigs were embedded in the dura mater with abundant collagenous connective tissue. By immunohistochemistry, axons and Schwann cells were confirmed in each nerve fascicle. Our observations suggest that avulsion injuries in the preganglionic fibers of the spinal nerve roots, and secondary spinal cord compression, resulted in the development of neurologic signs.