You are here

2020 Diagnostic Case Presentations (Fri. Oct 16)

Diagnostic Case Presentations: 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | Diagnoses


 

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

Abstract:

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. 

Material Submitted:

Questions:

  1. Most likely diagnosis based on H&E slide?


 

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

Abstract:

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.

Material Submitted:

Questions:

  1. The differential diagnosis for this lesion?
  2. Additional investigations to confirm the diagnosis?
  3. The diagnostic features (radiologic and pathologic) of this lesion?


 

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

Abstract:

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

Material Submitted:

Questions:

  1. Diagnosis?
  2. Pathogenesis?


 

Case #: 4

Presentation Time: 1135-1155

Chen Zesheng1, Vinters V. Harry1 1University of California, Los Angeles Neuropathology

Abstract:

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.

Material Submitted:

Questions:

  1. What is the differential for the finding in the gross picture?
  2. What microscopic findings are present on the H&E slide?
  3. What syndromes are associate with this combination of gross and microscopic findings?
  4. What genetic abnormalities have been identified in those syndromes?


 

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

Abstract:

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.

Material Submitted:

Questions:

  1. Differential diagnosis?


 

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

Abstract:

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.

Material Submitted:

Questions:

  1. What is the diagnosis & what stain(s) would you need to confirm the diagnosis?
  2. Are there any particular molecular characteristics of this lesion?
  3. What is the prognosis of this lesion in adults compared to children?
  4. How common in SAH seen in association with pituitary lesions?


 

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

Abstract:

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.

Material Submitted:

Questions:

  1. What is the (shared) diagnosis of these two cases?
  2. What type of pathophysiologic process is occurring in these lesions?


 

Case #: 8

Presentation Time: 1350-1410

Egiroh Omene (PGY5 neurology resident)1, Teerin Liewluck2, Ardyth Milne3, Keri Schellenberg1, Viktor Zherebitskiy4

Abstract:

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.

Material Submitted:

Questions:

  1. Possible differential diagnosis after reviewing H&E and Gomori trichrome stains?
  2. Ultrastructural diagnosis after reviewing electron microscopy?
  3. Role of molecular genetic testing in this type of muscle disorders?
  4. How treatable this condition is and which interventions might be beneficial?


 

Case #: 9

Presentation Time:1410-1430

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

Abstract:

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.

Material Submitted:

Questions:

  1. What is the differential diagnosis for the biopsy?


 

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.

Abstract:

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.

Material Submitted:

Questions:

  1. Possible differential diagnosis after reviewing low power H&E stain?
  2. Final diagnosis after reviewing high power H&E stain and electron microscopy?
  3. Would negative or borderline serology preclude from the correct diagnosis and treatment?
  4. Role of molecular testing in this type of muscle disorders?