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Case Report: Interindividual variability and possible role of heterozygous variants in a family with deficiency of adenosine deaminase 2: are all heterozygous born equals?
In conclusion, this familiar case demonstrated the wide range of phenotypic variability in DADA2. The search for ADA2 mutations and the assessment of ADA2 activity should be considered also in patients with the association of hypogammaglobulinemia and inflammatory conditions, also with late presentation and in absence of vasculitis. Furthermore, the clinical picture of the deceased carrier suggests a possible contribution of heterozygous pathogenic variants to inflammation.
Source: Frontiers in Immunology - May 3, 2023 Category: Allergy & Immunology Source Type: research

Intravascular large B-cell lymphoma presenting as rapidly progressive dementia and stroke: A case report
Rationale: Intravascular large B-cell lymphoma (IVLBCL) is a rare form of large B-cell non-Hodgkin lymphoma. The diagnosis is challenging and frequently made at biopsy. Here we reported a case of IVLBCL limited to the central nervous system (CNS) presenting with progressive dementia and acute stroke, who was diagnosed by brain biopsy. Patient concerns: A 47-year-old woman was transferred to our hospital with a 6-month history of rapidly progressive dementia, and left limb weakness and numbness for 3 days. She was successively misdiagnosed with inflammatory demyelinating disease and stroke. Her condition deterior...
Source: Medicine - December 3, 2021 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

Idiopathic Thrombocytopenia Purpura Masking Hodgkin Disease: A Paraneoplastic Syndrome or Simply a Mere Association?
We report a 74-year-old female who presented to the emergency department complaining of bruising and stroke-like symptoms. She underwent a negative stroke work-up but was found to have profoundly low platelets and splenomegaly on examination. An abdominal CT scan was ordered, showing pelvic lymphadenopathy. Lymphoma was suspected. However, subsequent bone marrow and lymph node biopsies showed no evidence of this. She was treated for immune thrombocytopenia purpura (ITP) to no avail while a lymphoma work-up continued. Months later, a third and final lymph node biopsy yielded evidence of Hodgkin disease (HD) and she began tr...
Source: Case Reports in Oncology - December 19, 2017 Category: Cancer & Oncology Source Type: research

Think outside the box, collapse the box, and take a sharp knife to it!
A 74 year–old woman presented in December 2011 with left sided cerebellar symptoms. She was initially diagnosed as having a posterior circulation infarction and discharged from hospital on appropriate medication. However, over the following month she continued to deteriorate, developing increasing unsteadiness, falls, nausea and vomiting. Following a second admission in January 2012 she had a single seizure and developed focal left sided myoclonus affecting mainly the upper limb. Over the following month the myoclonus spread to affect all four limbs, although it remained more prominent on the left side. There was evi...
Source: Journal of Neurology, Neurosurgery and Psychiatry - October 9, 2013 Category: Neurosurgery Authors: Dobson, R., McMillan, A., Kung, K., Thom, M., Davis, A., Simister, R., Giovannoni, G., Gnanapavan, S. Tags: Immunology (including allergy), HIV/AIDS, Tropical medicine (infectious diseases), Brain stem / cerebellum, Epilepsy and seizures, Infection (neurology), Multiple sclerosis, Stroke, Ophthalmology, Radiology, Surgical diagnostic tests Association of Brit Source Type: research

Acute Autonomic Symptoms with Anti-MAG Neuropathy as a Presentation of Small B Cell Lymphoma (P03.023)
CONCLUSIONS: Acute autonomic symptoms can be a rare and a confusing clinical manifestation of anti-MAG distal symmetric polyneuropathy.Thorough work-up including bone marrow biopsy is needed to rule out underlying B cell lymphoma in the presence of a monoclonal gammopathy.Disclosure: Dr. Reyes has nothing to disclose. Dr. Govindarajan has nothing to disclose. Dr. Salgado has received personal compensation in an editorial capacity from Belvoir Media Group as Consulting Editor of A Special Report published by the editors of Heart Advisor Cleveland Clinic STROKE: Advances in Prevention and Treatment of Cerebrovascular Disease.
Source: Neurology - February 14, 2013 Category: Neurology Authors: Reyes, D., Govindarajan, R., Salgado, E. Tags: P03 Dysautonomias Source Type: research