Rare Case of Spinal Neurosarcoidosis with Concomitant Epidural Lipomatosis.

INTRODUCTION: Spinal neurosarcoidosis is a rare disease that can manifest as myelopathy, radiculopathy, or cauda equine syndrome. Spinal epidural lipomatosis is also a rare condition resulting from overgrowth of epidural fat tissue causing compressive myelopathy. To our knowledge, there are no reports linking epidural lipomatosis and spinal neurosarcoidosis. Case Report. We describe a case of progressive myelitis in the presence of concomitant spinal neurosarcoidosis and epidural lipomatosis which was a challenging diagnosis with complete response to treatment after addressing both diseases. Both etiologies are inflammatory in nature and share similar expression of inflammatory factors such as TNF-α and IL-1ß. CONCLUSION: The common inflammatory process involved in these two diseases might explain a pathophysiological interconnection between both diseases that may underlie their concomitant development in our patient. If these two diseases are interconnected, in their pathophysiological mechanism remains a hypothesis that will need further investigation.

Spinal cord infarction in a young adult: What is the culprit?

Context: Non-traumatic spinal cord infarction in the young adult is usually associated with a single or multiple genetic mutations. There are certain gene mutations that are more commonly associated with spinal cord infarctions. Homozygous or heterozygous mutations, and single mutations or polymorphism, do not seem to determine the probability of spinal cord infarction.Findings: We add another case of spinal cord infarction in a young adult to the few reported in the literature, and discuss the value of genetic studies and genetic counseling.Conclusion: Non-traumatic spinal cord infarction is usually caused by a genetic mutation. Early recognition of this entity and definition of the mutation will limit unnecessary and invasive procedures and allows early rehabilitation, preventive measures for complications and genetic counseling.

Adult onset Sandhoff disease: a rare mimicker of amyotrophic lateral sclerosis.

Sandhoff disease is an under-recognized disease that may present as a lower motor neuron disorder in adulthood. We report the case of siblings presenting in their late 40s with a motor neuron disease phenotype and were misdiagnosed as amyotrophic lateral sclerosis and later found to have Sandhoff disease. Sandhoff disease should be considered in patients presenting with a slowly progressive predominately lower motor neuron disorder. A simple low-cost blood test can confirm the diagnosis.