Acute Cervical Longitudinally Extensive Transverse Myelitis in a Child With Lipopolysaccharide-Responsive-Beige-Like-Anchor-Protein (LRBA) Deficiency: A New Complication of a Rare Disease

Abstract

Lipopolysaccharide responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency disorder (PID) that can cause a common variable immunodeficiency (CVID)-like disease. The typical features of the disease are autoimmunity, chronic diarrhea, and hypogammaglobulinemia. Neurological complications are also reported in patients affected by LRBA deficiency. We describe a 7-year old female with an acute cervical longitudinally extensive transverse myelitis (LETM) as a feature of LRBA deficiency. This is the first case of LETM associated with LRBA deficiency described in literature.

Keywords: acute cervical longitudinally extensive transverse myelitis; autommunity; common variable immune deficiency (CVID); lipopolysaccharide responsive beige-like anchor protein (LRBA); myelitis.

Figure 1

Cervical Magnetic Resonance Imaging (MRI) at clinical onset demonstrating a longitudinally extensive signal abnormality involving the cervical spinal cord, extending from the obex to D3. The cord appears markedly swollen, both gray and white matter are involved, and post-contrast sequences demonstrate marked cord enhancement between C3 and C5 (red arrows). Findings are compatible with acute longitudinally extensive transverse myelitis (LETM).

Figure 2

Follow-up MRI scans at 20 (A) and 55 (B) days, showing progressive reduction of the spinal cord swelling and contrast enhancement. In (B), contrast enhancement has completely regressed, due to blood-brain barrier restoration, and the spinal cord shows a near-normal appearance with no residual disease. No spinal cord atrophy is noted.