Case #: 1
Presentation Time: 0950-1010
Adrian B. Levine1, Sina Marzoughi2, Ikreet Cheema2, Alexander J. Stoessl2, Thomas J. Zwimpfer3, Ian R. Mackenzie1
Departments of 1 Pathology and Laboratory Medicine, 2 Neurology, and 3 Neurosurgery, University of British Columbia, Vancouver, BC, Canada
This 48-year female presented with a six-week history of increasingly aggressive, paranoid, and disorganized behaviour. Her past medical history was significant for a heart transplant one year prior, as well bilateral thromboembolic middle cerebral artery territory strokes with resulting global aphasia, cortical deafness, and cognitive dysfunction. Her neurological assessment upon admission was challenging due to significant baseline deficits, but it was noted that she was distractible and not following commands, yet had no new focal deficits. Neuroimaging (CT and MRI) demonstrated multiple ring enhancing lesions, predominantly located within the right temporal lobe, with significant surrounding vasogenic edema, which were thought to explain her subacute behavioural changes. A broad differential was considered, but given her immunosuppressed status, an opportunistic infection or malignancy seemed most likely. She was started on broad spectrum empiric antibiotics, including coverage of protozoal and fungal organisms, and, given the diagnostic uncertainty, underwent brain biopsy.
Diagnosis: Chagas disease (Trypanosoma cruzi encephalitis)
Case #: 2
Recipient of the 2020 Mary Tom Award (Dr. Noor Alsafwani)
Presentation Time: 1010-1030
Noor S. Alsafwani1, Phedias Diamandis1, Andrew F. Gao 1
1Laboratory Medicine Program, University Health Network, Toronto, ON
A 36-year-old woman with type 2 diabetes mellitus and obesity presented with progressive balance disturbance over several months. She had an unremarkable family history and was born to healthy, non-consanguineous parents. On examination, she was alert, oriented, and conversant. She had a normal fundoscopy. There were no gross sensory or pyramidal motor abnormalities. Evaluation of coordination with finger-to-nose and rapid alternating movements testing revealed marked left-side dysmetria and ataxia. A gadolinium-enhanced magnetic resonance imaging (MRI) study revealed multiple cystic lesions, most notably in the pons (3 cm, exerting mass effect on the brainstem) and cerebral white matter, and extensive white matter hyperintensity on T2-weighted images. Computed tomography (CT) revealed small calcifications scattered within the centrum semiovale and right thalamus. The lumbar puncture was normal. A stereotactic biopsy of right frontal white matter was performed and submitted to pathology.
Diagnosis: Leukoencephalopathy with brain calcifications and cysts (Labrune syndrome)
Case #: 3
Presentation Time: 1115-1135
Arnulf H. Koeppen1,2, Jiang Qian2, Peter Bauer3
1Research Service, Veterans Affairs Medical Center, Albany, NY 12208 USA
2Department of Pathology, Albany Medical College, Albany, NY 12208 USA
3Centogene, Rostock, Germany
This 68-year-old woman with ataxia was admitted to a hospital in a state of severe illness and died shortly after admission. Clinical data came from the office notes of her neurologist. The autopsy was delayed by 3 days, but frozen and fixed tissues arrived in Albany, NY, for diagnosis and further study. The patient began being ataxic late in life, perhaps as late as age 50. For many years, the diagnosis was Friedreich ataxia (FA), but her physicians were also concerned over behavioral changes and diagnosed frontotemporal dementia. The neurological examination was also unusual because of leg spasticity and hyperreflexia. Babinski signs were recorded on several occasions. The patient had no heart disease or diabetes mellitus. She did not tolerate donepezil for memory failure but was better on memantine. While genetic testing was mentioned in many office notes, the laboratory record did not include an analysis of guanine-adenine-adenine (GAA) trinucleotide repeat expansions in support of FA. The clinical notes contained reports of multiple CT scans and at least 2 MRI of the brain. Both techniques revealed severe cerebellar atrophy, Deoxyribonucleic acid was extracted from the cerebellar cortex and forwarded to Contogene, Rostock, Germany, for analysis. Submitted material: 2 H&E-stained sections of cerebellum and hippocampus
Diagnosis: Alzheimer disease with heterozygous NPC1 mutation
Case #: 4
Presentation Time: 1135-1155
Chen Zesheng1, Vinters V. Harry1 1University of California, Los Angeles Neuropathology
We present a case of brain autopsy of a 19-year-old male. He was born at term, with macrocephaly noted at 34 weeks of gestational age. Other medical conditions in the subject included hydrocephalus, epilepsy, developmental delay, and recurrent aspiration pneumonia and tracheostomy dependent chronic lung disease.
Diagnosis: Megalencephaly-capillary malformation syndrome
Case #: 5
Presentation Time: 1155-1215
Suzy E. Kosteniuk 1, Denise W. Ng 1
1 Department of Pathology and Laboratory Medicine, University of Calgary, Calgary, AB, Canada
A 49 year old man presents with a history of subacute vertigo and acute mild traumatic head injury. His medical history included rheumatoid arthritis, for which he was taking methotrexate, and a tonsillar lesion not yet diagnosed. Imaging revealed multiple periventricular and intraventricular lesions, which were hyperdense on computer tomography imaging and avidly gadolinium-enhancing on magnetic resonance imaging. A right temporal craniectomy was performed, and tissue diagnosis was made. Treatment was initiated but proved unsuccessful, and the patient died two months after initial presentation.
Diagnosis: T-cell lymphoma NOS
Case #: 6
Presentation Time: 1215-1245
Urankar, K1, Cuevos-Acampo, AK2.
1 Department of Neuropathology, North Bristol NHS Hospital Foundations Trust, Bristol, UK
2 School of Clinical Sciences, University of Bristol, Bristol, UK
This 59 year old female presented to hospital in early December following a sudden collapse at home. A subsequent CT scan revealed evidence of acute subarachnoid haemorrhage. CT angiography did not reveal any evidence of underlying aneurysm and the cause at this stage remained unknown. Her conscious level did not improve over the subsequent days of her hospital admission and a subsequent MRI scan was requested. This showed a mass lesion in the sella, bulging into the suprasellar cistern. It showed a low signal on T2 and high signal on T1 with patchy areas of contrast enhancement. A presumptive diagnosis of a pituitary adenoma with possible apoplexy was made. Given her persistent low GCS and the development of hydrocephalus, she was sent for an urgent transphenoidal resection of the lesion which was subsequently submitted for pathological analysis.
Diagnosis: Sellar atypical teratoid/rhabdoid tumour
Case #: 7
Presentation Time: 1330-1350
Suzy E. Kosteniuk 1, Kristopher D. Langdon 1, Lothar Resch 1
1 Department of Pathology and Laboratory Medicine, University of Calgary, Calgary, AB, Canada
Case 1: A 79 year old woman with a history of hypertension presents with a one week history of extremity weakness, progressive gait instability, urinary incontinence, headache, and disorientation. Neuroimaging reveals a hemorrhagic lesion centred on the septum pellucidum and splenium of the corpus callosum. Case 2: A 36 year old healthy woman presented with "clumsiness" of her right hand and was found to have a heterogeneously-enhancing posterior fossa lesion, thought to be a meningioma with atypical imaging features. Her clinical symptoms spontaneously resolved but the lesion increased in size from 10 x 8 x 8 mm to 19 x 18 x 17 mm over an eight-year period. The patient opted to undergo resection of the slowly growing lesion.
Diagnosis: Intravascular papillary endothelial hyperplasia (Masson tumour)
Case #: 8
Presentation Time: 1350-1410
Egiroh Omene (PGY5 neurology resident)1, Teerin Liewluck2, Ardyth Milne3, Keri Schellenberg1, Viktor Zherebitskiy4
57-year-old right handed female, full time dental hygienist with minimal past medical history and family history of Kennedy's disease (brother) presented with proximal upper extremity weakness and non-radicular pain in her neck and shoulders. Later lower extremities and axial weakness also have developed. During a few years her weakness has progressed to the point that she could no longer turn over in bed. Physical examination revealed severe scapular winging bilaterally and weakness of deltoids, biceps, triceps and shoulder girdle muscles as well as small muscles of hands and muscles of thigh. MRI scan (upper arm myositis protocol) revealed intramuscular edema in several upper extremity muscles including biceps, triceps, brachialis and trapezius muscles, suggestive of active myositis. EMG/NCS studies demonstrated myopathic changes, but without clear inflammatory or myonecrotic features. Also, CK level has been normal (77 U/L) and no specific myopathic antibodies have been discovered. Instead, there was mild kappa restricted plasmacytosis (10%), consistent with MGUS. Dystrophy related molecular genetic testing came back negative. Biopsy of left biceps is performed.
Diagnosis: Sporadic late-onset nemaline myopathy
Case #: 9
Basma AlYamany 1, Chitra Prasad 2, Sharan Goobie 3 Craig Campbell 2,4, Shannon Venance 4, Robert Hammond 1,4
1 Department of Pathology and Laboratory Medicine, Western University
2 Department of Pediatrics (Division of Medical Genetics), Western University
3 Department of Pediatrics (Division of Medical Genetics), Dalhousie University
4 Department of Clinical Neurological Sciences, Western University
A 10-year-old female, presented with several months of progressive muscle aches and pains, worsening headaches, fatigue and abdominal pain. She was known to have spina bifida and hydrocephalus antenatally. Her past medical and surgical history include; surgical myelomeningocele repair, shunt placement for hydrocephalus, tethered cord, and decompression for Chiari type 2 malformation. She was able to walk but unable to keep up with her peers in physical activities. She is cognitively normal. On examination, she had mild weakness (MRC grade 4 to 4+) in upper and lower extremities, normal tone, diffusely reduced reflexes with upgoing plantar reflexes bilaterally.
Diagnosis: Dystrophinopathy (female manifesting carrier)
Case #: 10
Presentation Time: 1430-1450
Egiroh Omene (PGY5 neurology resident)1, Dr. Joseph Blondeau2a, Dr. Stephen Sanche2a & 3a, Satchan Takaya3a, Shravankumar Nosib3b, Rim Zayed5, Nnamdi Ndubuka5, Emily Jenkins4, Pratap Kafle4, Vladislav Lobanov, Viktor Zherebitskiy2b.
1Departments of Neurology,
2Pathology and Laboratory Medicine (Microbiology Division2a and Anatomical Pathology Division2b),
3Department of Medicine (Infection Disease Division3a and Cardiology 3b),
4Department of Veterinary Microbiology,
5University of Saskatchewan, Northern Population Health Unit5, Saskatchewan Health Authority, Canada.
24 year old female presented with two week history of acute onset of muscle aches, nausea, vomiting and diarrhea. A week prior to becoming symptomatic, herself and her family consumed some meet outdoor. Her laboratory work includes elevated white blood count, eosinophilia, increased ESR, CRP, troponin, CK (2165 U/L), and LDH, and mildly elevated LFTs. ECG revealed sinus tachycardia. Cardiac MRI was normal. Antibody panel for inflammatory and necrotizing myopathies came back negative. Anti-mitochondrial antibodies were also negative. Serology for Leptospira was negative. Serology for other parasites was not convincing. Ova and parasites were not seen in stool specimen. Biopsy of right quadriceps was performed.
Diagnosis: Trichinella myositis