Neurological Manifestations of Histiocytic Disorders

Banks, Samantha A.; Valinotti, Julio C. Sartori; Go, Ronald S.; Abeykoon, Jithma P.; Goyal, Gaurav; Young, Jason R.; Koster, Matthew J.; Vassallo, Robert; Ryu, Jay H.; Davidge‐Pitts, Caroline; Ravindran, Aishwarya; Bennani, N. Nora; Shah, Mithun Vinod; Rech, Karen L.; Tobin, W. Oliver

doi:10.1007/s11910-023-01272-4

Search citation statements

Order By: Relevance

Paper Sections

Select...

Discussion1

Citation Types

Supporting

Mentioning

Contrasting

Year Published

2024

Publication Types

Select...

Article2

Relationship

Self Cite1

Independent1

Authors

Journals

Cited by 2 publications

(1 citation statement)

References 61 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A histiocytic neoplasm should be suspected in cases of diabetes insipidus, dural-based lesions, infiltrative brainstem lesions, and/or persistently enhancing lesions on brain or spinal cord imaging. An approach to the diagnosis of a potential histiocytic neoplasm has been published [ 7 ].…”

Section: Discussionmentioning

confidence: 99%

Clinical features and outcomes in primary nervous system histiocytic neoplasms

Nathoo,

Uhm,

Porter

et al. 2024

Blood Cancer J.

Self Cite

View full text Add to dashboard Cite

Section: Discussionmentioning

confidence: 99%

Clinical features and outcomes in primary nervous system histiocytic neoplasms

Nathoo,

Uhm,

Porter

et al. 2024

Blood Cancer J.

Self Cite

View full text Add to dashboard Cite

SLC29A3 Pathogenic Variants Resulting in Dural Based Fibroinflammatory Mass Lesions and H Syndrome Treated With Cobimetinib

Banks,

Abeykoon,

Rech

et al. 2024

Neurol Genet

View full text Add to dashboard Cite

ObjectivesPathogenic SLC29A3 variants are known to cause autosomal recessive disease with a spectrum of systemic involvement. We sought to expand on the spectrum of SLC29A3 variants and describe potential treatment. MethodsWe describe a case of newly diagnosed SLC29A3-related disorder, also known as H syndrome or familial histiocytosis, associated with CNS inflammatory pseudotumor and spinal cord compression. ResultsWe present a 25-year-old man with recurrent dural based masses resulting in spinal cord and brain compression, hyperpigmented skin patches, proptosis, short stature, and elevated serum and spinal fluid inflammatory markers. Panel genetic testing revealed homozygous pathogenic variant c.1309G>A in the SLC29A3 gene resulting in a missense alteration (p. Gly437Arg). The patient was treated with cobimetinib with clinical, serologic, and radiographic improvement at 1-month follow-up. DiscussionSLC29A3 variant may cause fibroinflammatory lesions involving the dura resembling the clinical spectrum of Rosai-Dorfman disease. Patients with SLC29A3 disease and neurologic signs or symptoms should undergo screening MRI for CNS involvement. MEK inhibition represents a novel treatment for this disorder.

show abstract

Neurological Manifestations of Histiocytic Disorders

Cited by 2 publications

References 61 publications

Clinical features and outcomes in primary nervous system histiocytic neoplasms

Clinical features and outcomes in primary nervous system histiocytic neoplasms

SLC29A3 Pathogenic Variants Resulting in Dural Based Fibroinflammatory Mass Lesions and H Syndrome Treated With Cobimetinib

Contact Info

Product

Resources

About