A 24 Year‐Old Woman with Relapsing Brainstem Manifestations and Multiple Focal Brain Lesions

Abstract

A 24 year-old white right handed woman with an otherwise unremarkable medical and family history was admitted with vertigo, hiccups, intractable vomiting, gait unsteadiness and oscillopsia that developed gradually over 9 months.Although initially relapsing and remitting, her manifestations became persistent approximately one month prior to her admission. Neurological examination revealed periodic alternating nystagmus, gait ataxia and bilaterally brisk tendon reflexes in upper and lower extremities and a right extensor plantar reflex. On admission brain MRI there were several lesions with increased T2/FLAIR ( Fig. 1BCD) and low T1 signal including a space-occupying lesion in the left half of the pons, extending into the left middle cerebellar peduncle, the medulla and the lower mesencephalic tectum (Fig. 1A). Lesions did not exhibit gadolinium enhancement ( Fig. 1A) but showed restricted diffusion in diffusion-weighted sequences (Fig. 1E). Spinal cord MRI was normal. CSF analysis on admission and two months later showed normal cell counts and glucose levels, increased protein (83mg/dL and 90mg/dL, respectively), normal IgG index and no oligoclonal bands. CSF flow cytometric analysis was within normal values and CSF cytology was negative for neoplastic cells in both occasions. Full blood counts, biochemistry, serum LDH, thyroid studies, coagulation profiles, ESR, CRP, autoimmune antibody screening including anti-AQP IV antibodies, plasma folate and B12 vitamin levels, plasma protein immunoelectrophoresis, complement levels, urine analysis and serology for hepatitis and HIV were normal. Bone marrow biopsy and contrast-enhanced whole body CT, upper and lower endoscopy and abdominal ultrasonography were unremarkable. Fundoscopy and slit-lamp examination were also unremarkable. Upon magnetic resonance spectroscopy findings suggestive of tumefactive demyelinating lesions, the patient was treated with two monthly courses of mitoxantrone with no apparent clinical benefit and expansion of lesions on MRI, yet still without gadolinium enhancement. A month after the second course of mitoxantrone she developed dysphagia, voice hoarseness and cachexia. Neurological examination revealed left abducens palsy, pathological left-sided cerebellar tests in addition to previous findings and posterior laryngoscopy showed left vocal cord paresis. A new CSF analysis revealed a raised protein level (130mg/dL) with normal cell counts and glucose. CSF cytology, oligoclonal bands were negative and flow cytometric analysis was within normal ranges. A new brain MRI indicated enlargement of pre-existing lesions with peripheral gadolinium enhancement of the brainstem space-occupying lesion (Fig. 1F). Stereotactic biopsy of the brainstem lesion was performed.

Primary Brainstem Lymphoma: A Population-Based Study

“…PBSL mainly affected adults in their sixth decade with a slight male predominance. Parallel to previous case reports [6][7][8][9][10][11][12][13][14][15][16][17][18], our study con rmed that all PBSLs were NHLs. The prognosis of PBSL is poor.…”

“…But PCNSL located at the brainstem predicts more severe surgical complications [5]. At present, there are only several case reports from a single institute [6][7][8][9][10][11][12][13][14][15][16][17][18]. The existing published studies failed to estimate the survival of PBSL, let alone to explore survival-related factors.…”

Natural Killer Cell Lymphoblastic Leukaemia/Lymphoma: Case Report and Review of the Recent Literature

“…A biopsy showed infiltration of intermediate-sized agranular lymphocytes expressing TdT and CD56 with absence of all myeloid, B-cell, and T-cell markers. An assessment of TCR and IgH gene rearrangement resulted negative, and based on these findings the diagnosis of precursor NK cell lymphoblastic leukaemia/lymphoma was made [ 2 ].…”

“…A cytogenetic evaluation showed no specific recurrent genetic abnormalities for ALL; however, there was a tumour clone with translocation between the short arm of chromosome 1 at p36.1 and the long arm of chromosome 14 at q24 and isochromosome 17q as a clonal evolution. FISH analysis confirmed that the TP53 gene was deleted in 14% of the studied cells and was negative for ALL panel-specific abnormalities; the cytogenetic result was as follows: 46,XY,t(1; 14)(p36.1;q24)[ 3 ]/46,XY,idem,i(17)(q10)[ 2 ]/46,XY[ 5 ]. nuc ish(ABL1,BCR)x2[100]/(ETV6,RUNX1)x2[100]/(5′MLL,3′MLL,5′MLL con 3′MLL)x2[100]/(5′MYC,3′MYC,5′MYC con 3′MYC)x2[100]/(TCF3,PBX1)x2[100]/(TP53€1)[28/200].…”

“…A diagnosis of this leukaemia is considered in cases expressing CD56 along with T-cell-associated markers such as CD2 and CD7 with absence of B-cell and myeloid markers. The T-cell and immunoglobulin (Ig) receptor genes must be in the germline configuration, and blastic plasmacytoid dendritic cell leukaemia should be excluded [ 1 , 2 ].…”