Cytochemical Characterization of Cerebrospinal Fluid Macrophage Inclusions in Pediatric Patients Receiving Intrathecal Nusinersen (SPINRAZA®) for Spinal Muscular Atrophy

Acta Cytologica · 2021 · 7 citations

• Medicine
• Pathology

INTRODUCTION: Spinal muscular atrophy (SMA) is a debilitating neuromuscular disorder caused by biallelic deletion of the SMN1 gene. Nusinersen, an antisense oligonucleotide delivered intrathecally, binds to the pre-mRNA of SMN1's pseudogene, SMN2, to prevent exon skipping and produce functional SMN protein to compensate for the deficiency caused by SMN1 deletion. CASE PRESENTATION: We reviewed 15 cerebrospinal fluid (CSF) cytology specimens from 8 patients receiving nusinersen for SMA. Macrophages with peculiar inclusions ("nusinophages") were seen in 8 specimens from 4 of the patients: 1 infant and 3 children with SMA type 1. This finding has only previously been reported in adults with SMA types 2 and 3 and in 2 infants with SMA type 1. DISCUSSION/CONCLUSION: Specimens containing nusinophages had a significantly higher proportion of macrophages and lower proportion of lymphocytes than those in which nusinophages were not detected. The macrophage inclusions do not represent iron or microorganisms and instead are composed, at least in part, of glycosaminoglycans. Because CSF is a common specimen type, cytotechnologists and cytopathologists need to be aware of these inclusions, so they do not interpret them erroneously as evidence of infection or hemorrhage, especially in light of the fact that oligonucleotide therapy has been approved for a variety of conditions and is currently under investigation for intrathecal delivery in several other neurodegenerative disorders.

Potential Utility of Thromboelastography for Patients with Abnormal Coagulation Markers in Interventional Radiology: Report of 3 Cases and Review of Literature

CardioVascular and Interventional Radiology · 2021-02-19 · 1 citations

Orbital Venous Malformation

Applied Radiology · 2020-03-01

Malignant Ectomesenchymoma of the Scalp

Applied Radiology · 2020 · 3 citations

• Medicine
• Dermatology

Tumoral Calcinosis

Applied Radiology · 2020-03-01 · 1 citations

Inflammatory Myofibroblastic Tumor

Applied Radiology · 2020 · 9 citations

• Computer Science
• Computer Science

Langerhans cell histiocytosis

Applied Radiology · 2019-05-01 · 3 citations

The Complex Spine in Children with Spinal Muscular Atrophy: The Transforaminal Approach—A Transformative Technique

American Journal of Neuroradiology · 2019-07-11 · 23 citations

BACKGROUND AND PURPOSE: Spinal muscular atrophy, a genetic disease resulting in loss of motor function, presents from in utero to adulthood. Depending on progression and secondary scoliosis, spinal stabilization may be necessary. When planning intrathecal access in these patients, spinal anatomy is the most important factor. Therefore, when planning intrathecal nusinersen injections, we subdivided patients with spinal muscular atrophy into simple-versus-complex spine subgroups. Our purpose was to present our experience with our first 42 transforaminal intrathecal nusinersen injections. MATERIALS AND METHODS: We reviewed 31 consecutive patients with spinal muscular atrophy types 1-3 who presented for intrathecal nusinersen injections from March 2017 to September 2018. Nine children had complex spines (ie, spinal instrumentation and/or fusion) and required preprocedural imaging for route planning for subarachnoid space access via transforaminal or cervical approaches. RESULTS: A total of 164 intrathecal nusinersen injections were performed in 31 children 4-226 months of age, with 100% technical success in accessing the subarachnoid space. Nine patients with complex spinal anatomy underwent 45 intrathecal nusinersen injections; 42 of 45 procedures were performed via a transforaminal approach with the remaining 3 via cervical techniques. There were no complications. CONCLUSIONS: Our initial experience has resulted in a protocol-driven approach based on simple or complex spinal anatomy. Patients with simple spines do not need preprocedural imaging or imaging-guided intrathecal nusinersen injections. In contrast, the complex spine subgroup requires preprocedural imaging for route planning and imaging guidance for therapy, with the primary approach being the transforaminal approach for intrathecal nusinersen injections.

A comprehensive institutional overview of intrathecal nusinersen injections for spinal muscular atrophy

Pediatric Radiology · 2018-07-18 · 47 citations

Abstract No. 594 Nusinersen for spinal muscular atrophy: the era of interventional radiology molecular therapy is here

Journal of Vascular and Interventional Radiology · 2018-03-01