A team of researchers reported the case of a patient with longitudinal extensive myelitis (LETM) associated with alpha-1 antitrypsin deficiency (AATD) and published their findings in Neuroimmunology Reports

LETM is a demyelination lesion in the cervical section of the spine that extends through 3 or more vertebrae. It is most commonly associated with neuromyelitis optica spectrum disorders, and, to a lesser extent, multiple sclerosis and systemic lupus erythematosus. It is not commonly associated with AATD.

The case as presented details a 58-year-old man with a 6-month history of worsening bilateral lower limb numbness and paresthesia. Over the 6 months, the paresthesia ascended from both feet up to affect the perineal region. The patient reported significant Lhermitte’s phenomenon and balancing difficulties.


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A neurological examination revealed decreased pinprick sensation up to the knees. The patient also had impaired proprioception and vibratory sensation in his bilateral lower extremities. He also demonstrated a slight imbalance in a tandem walk test.

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The patient had a family history of emphysema (the patient’s father), so his physicians conducted an alpha-1 antitrypsin (AAT) gene mutation analysis, which revealed that he had the MZ genotype. Magnetic resonance imaging of the spine revealed a T2 hyperintense lesion from C5 to T1. “The lesion was contrast-enhancing and consistent with LETM,” the authors wrote.

The initial treatment regimen of methylprednisolone and immunoglobulin did not provide optimal response. Hence, the patient’s physicians changed his treatment regime to rituximab with pulses of monthly intravenous methylprednisolone, which achieved a good clinical response. Four years later, the patient remained stable with improvements in his balance, and gait, as well as his pinprick, and vibratory sensations.

“This case report highlights the consideration of evaluating AAT status in patients with persistent enhancement within settings of LETM, [aquaporin-4] and [myelin oligodendrocyte glycoprotein] negative demyelinating presentations,” the authors concluded.

Reference

Ozel O, Eckert SP, Jakimovski D, et al. Persistent spinal cord enhancement in longitudinal extensive transverse myelitis associated with α-1-antitrypisn deficiency: a case report. Neuroimmunology Reports. Published online April 11, 2022. doi:10.1016/j.nerep.2022.100090