Tumefactive Demyelinating Lesions in Children: A Rare Case of Conus Medullaris Involvement and Systematic Review of the Literature

Abstract

Tumefactive demyelinating lesions are an uncommon manifestation of demyelinating disease that mimic primary central nervous system neoplasms and can pose a diagnostic challenge in patients without a pre-existing diagnosis of multiple sclerosis. Although a biopsy may be required to distinguish TDL from neoplasms or infection, certain ancillary and radiographic findings may preclude the need for invasive diagnostic procedures. We describe the case of a 15-year-old boy with a tumefactive demyelinating lesion involving the conus medullaris. An exhaustive systematic literature search of pediatric cases of TDL yielded an additional 78 cases. This review summarizes the current knowledge and recommendations for the diagnosis and management of this condition, highlighting the clinical, demographic, and radiologic features of 79 reported cases, including our own. Furthermore, it underscores areas of the literature where evidence is still lacking. Further research is needed to optimize clinical detection and medical management of this condition.

Tumefactive inflammatory lesions in juvenile metachromatic leukodystrophy

“…A recent review yielded only 79 published cases with tumefactive demyelinating lesions. 3 The most frequent childhood demyelinating disorders, MS, neuromyelitis optica spectrum disorders, and ADEM, typically present with multifocal lesions. Because both MLD (1 per 100,000 live births in Europe) and tumefactive lesions are extremely rare, it seems unlikely that the co-occurrence is a coincidence.…”

Tumefactive demyelination in pediatrics: An unusual late neurological complication of hematopoietic stem cell transplant

“…The term TD is defined radiologically as pseudo‐tumoral demyelinating lesions greater than 2 cm or lesions between 0.5 and 2 cm with possible mass effect 9 . There are 79 reported cases of TD in children till date and none in the posttransplant setting 2 . Some characteristic features that can be noted in these cases are rapid progression of symptoms over a short time period (<1 week), 4 involvement of multiple CNS sites, 5 white matter predilection, smaller mass effect than expected when considering the lesion size, and rapid improvement in MRI appearance with steroid 10 .…”

“…The common IMDD post HSCT include acute disseminated encephalomyelitis (ADEM), Guillain–Barré syndrome (GBS), and chronic idiopathic demyelinating polyneuropathy (CIDP) 1 . Tumefactive demyelination (TD) is an unusual form of IMDD that has not been reported in the pediatric age group post HSCT 2 . The pathogenesis of this condition is uncertain, and it is debated whether the lesions result from autoimmunity or due to an allo‐reactive immune phenomenon in the spectrum of graft‐versus‐host disease (GVHD) 3 .…”

Tumefactive Demyelinating Multiple Sclerosis in childhood – Case report and review of the literature

“…A careful history with emphasis on previous transient neurological signs not referable to a specific site in the CNS points to a diagnosis of MS.(2) In our case, prior to the onset of her motor deficit, the patient had been previously well, with no prior neurological symptoms. Pérez et al (3) found that headaches were the most common presenting complaint which although nonspecific in nature may point to a diagnosis of demyelination rather than neoplasm.…”

“…To date the literature on TDMS in children is scanty with only 79 published cases reported in the world literature (3) and as far as we are aware, this is the first reported case in South Africa. This small number of cases underscores the need for more awareness of the entity and in particular the awareness of the ability of neuroimaging to accurately diagnose these lesions without the need of histopathological confirmation.…”