Child with Susceptibility to Infection-Induced Acute Encephalopathy 3

2018 ◽  
Vol 17 (05) ◽  
pp. 191-198
Author(s):  
Ayman Khalil ◽  
Husain Ali Ahmed Malalla ◽  
Husain Naser ◽  
Ahood Almuslamani

AbstractA 10-month-old Bahraini boy born full-term to first-degree cousins, initially had normal developmental milestones, but presented with recurrent encephalopathy and seizures associated with upper respiratory tract infection. With each attack, the patient developmentally regressed further. Brain magnetic resonance imaging showed multiple old and new infarcts. Cerebrospinal fluid biochemistry, microbiology, and amino acids were unremarkable. Tandems mass spectrometry of urine organic acids was unremarkable as well. Electroencephalogram showed asymmetry with cortical irritability. Whole exome sequencing revealed a homozygous mutation of RAN-binding protein 2 gene, suggesting a diagnosis of susceptibility to infection-induced acute encephalopathy 3, which is an autosomal dominant condition. This is the first case to be reported in Bahrain.

2013 ◽  
Vol 11 (2) ◽  
pp. 205-209 ◽  
Author(s):  
William B. Lo ◽  
Mitul Patel ◽  
Guirish A. Solanki ◽  
Anthony Richard Walsh

Gemella haemolysans has long been considered a commensal in the human upper respiratory tract. Commensals are natural inhabitants on or within another organism, deriving benefit without harming or benefiting the host. Opportunistic infection of the CNS by the species is exceedingly rare. In the present case, a 16-year-old boy was admitted with a ventriculoperitoneal shunt infection, which was confirmed to be due to G. haemolysans. Following antibiotic treatment, removal of the old shunt, and delayed insertion of a new shunt, the patient made a full neurological recovery. To the authors' knowledge, this is the eighth case of CNS infection with G. haemolysans. Although prosthesis-related infections have been reported in other systems, this is the first case of CNS infection by the bacterium associated with an implant. Previous reported cases of CNS infection by G. haemolysans are reviewed. Due to the variable Gram staining property of the organism, the difficulty in diagnosing G. haemolysans infection is emphasized.


2021 ◽  
Vol 49 (2) ◽  
pp. 80-83
Author(s):  
Zoha Shaka ◽  
Helia Mojtabavi ◽  
Elham Rayzan ◽  
Samaneh Zoghi ◽  
Sepideh Shahkarami ◽  
...  

Introduction and objectives: X-linked agammaglobulinemia (XLA), the first known primary immunodeficiency, is caused by rare mutations in Bruton’s tyrosine kinase (BTK) gene. Mutations in the BTK gene lead to a failure in the development and maturation of B-cell linage. A decreased number of B-cells results in agammaglobulinemia and increased susceptibility to a variety of infections. Therefore, patients with XLA usually manifest with repetitive bacterial infections, such as upper respiratory tract infections, septic arthritis, osteomyelitis, and urinary tract infections, since their infancy. Patients: We report a 17-year-old Iranian boy with XLA, referred to us with a history of severe and recurrent episodes of bacterial infections for a period of six years. Results: Genetic analysis using the whole Exome sequencing revealed a hemizygous missense mutation in the BTK gene (c.428 A > T, p.His143Leu). Conclusion: To our knowledge, c.428 A > T has not been reported in the BTK gene.


2021 ◽  
pp. 1-2
Author(s):  
Ali Ramadan ◽  
◽  
Abiye Kassa ◽  
◽  

Extramedullary (extraosseous) plasmacytoma represents a rare disease that accounts for less 5% of plasma cell neoplasms. It commonly occurs in the upper respiratory tract, with 80% of cases involving the paranasal sinuses, nasopharynx, or nasal cavity. Plasmacytomas of the eyelid are very rare with only ten cases having been reported in the literature so far. We present the clinical and histopathologic findings from a case of plasmacytoma of the eyelid and discuss its histopathologic differential diagnoses. To our knowledge, this is the first case of plasmacytoma of the eyelid in an HIV-positive patient in the English literature


2019 ◽  
Vol 47 ◽  
Author(s):  
Fernanda Vieira Amorim da Costa ◽  
Andreia Spanamberg ◽  
Ricardo Araujo ◽  
Juliana Werner ◽  
Laerte Ferreiro

Background: Deep fungal infections of the orbit and nasal passages causing rhinitis and ulcerative keratomycosis are uncommonly reported in cats. Hyalohyphomycetes and phaeohyphomycetes have rarely been associated with this disorder. Sino-orbital fungal diseases are emerging and more invasive than sino-nasal fungal diseases with poor response to therapy and a worse prognosis. Brachycephalic feline breeds seem to be at increased risk for development of upper respiratory fungal diseases. Diagnosis is based on the demonstration of fungal hyphae by cytology or histology and definitive confirmation by fungal culture and molecular methods. This is the first case report of a cat with clinical mixed fungal ball with Aspergillus and Scopulariopsis in Brazil.Case: A 3-year-old male Persian cat, in São José city, Santa Catarina, Brazil, was presented with exophthalmos and corneal ulcer of the left eye and protrusion, hyperemia, quemosis and fibroses of the left third eyelid. The retropulsion of the globe was negative in this eyeball and a presumptive diagnosis of a retrobulbar mass was made. The patient underwent a surgical procedure for inspection and collection of samples for bacterial and mycological culture. Culture revealed no bacterial growth, however, unique and abundant growth of Aspergillus spp. was present. A subconjunctival enucleation of the left eye was made and the mass was sent for histopathology examination. Histology showed inflammatory proliferative necrotizing pyogranulomatous reaction; with the presence of severe fungal infection evidenced by large number of hyaline septated regular and irregular mold hyphae. Molecular identification was performed using panfungal primers (ITS3-F / ITS4-R). Patient was treated with systemic itraconazole associated with amphotericin B and topical clotrimazole. A mass started to grow rapidly in the left pterygopalatine fossa and was surgically removed, but recurrence occurred seven days after. After 22 days of treatment, the animal died suddenly with a history of acute inspiratory dyspnea and cyanosis at the time prior to death. The diagnosis of sino-orbital fungal disease in the feline was based on clinical signs, mycological culture, histopathology and molecular methods.Discussion: Sino-orbital fungal diseases rare in cats and can result in significant injuries to the upper respiratory tract and eyes, sometimes resulting in enucleation and death. It seems feasible that a brachycephalic facial conformation may be an important risk factor for the development of sino-nasal fungal diseases in cats. Despite using selected drugs and eye enucleation to treat the disease, the cat developed a rapid growing oral mass that probably caused acute inspiratory dyspnea and death. Since no controlled studies exist on the treatment of feline fungal diseases, these cases are a challenge to the feline practitioner and this type of clinical manifestation should be included in the differential diagnosis of upper respiratory and ocular diseases. 


2015 ◽  
Vol 13 (4) ◽  
pp. 252-257
Author(s):  
Andreja Arsovski ◽  
Liljana Stojanovska ◽  
Sasho Banev ◽  
Zoran Dimitrov

BackgroundExtramedullary plasmacytoma is a plasma cell malignancy that most commonly occurs in the upper respiratory tract. These tumors account for less than 5% from all plasma cell neoplasms. In most of the cases, tumor first appears in the mucosa of the upper respiratory tract, mainly in the paranasal sinuses. When only located in the lower respiratory tract (primary pulmonary plasmacytoma), the diagnosis is difficult and is usually based on the pathological findings from excised tissue.Case reportWe present one case of primary pulmonary plasmacytoma, which accidentally was diagnosed in our hospital, and this is the first case of primary pulmonary plasmacytoma reported in our country. In the present article, we describe a primary pulmonary plasmacytoma (PPP) of the right lower lobe without loco-regional lymph node involvement, treated radically. The histological finding was confirmed by immunohistochemistry. There was no clinical evidence for the presence of multiple myeloma.ConclusionPrimary pulmonary plasmacytoma present a rare neoplasm which could be differentially diagnostically classified as adenocarcinoma. The diagnosis of this tumor is based on pathological findings from excised tissue. The radical surgical treatment presents primary treatment option and, if there are no signs of the dissemination of the disease or of the presence of multiple myeloma, adjuvant chemotherapy is not needed.


Author(s):  
Renan Domingues ◽  
Maria Cássia Mendes-Correa ◽  
Fernando Brunale Vilela de Moura Leite ◽  
Ester Cerdeira Sabino ◽  
Ingra M Claro ◽  
...  

Abstract The association between coronaviruses and central nervous system (CNS) demyelinating lesions has been previously shown. However, no case has been described of an association between the novel coronavirus (SARS-COV-2) and CNS demyelinating disease so far. SARS-COV-2 was previously detected in cerebrospinal fluid (CSF) sample of a patient with encephalitis. However, the virus identity was not confirmed by deep sequencing of SARS-COV-2 detected in the CSF. Here, we report a case of a patient with mild respiratory symptoms and neurological manifestations compatible with Clinically Isolated Syndrome. The viral genome of SARS-COV-2 was detected and sequenced in CSF with 99.74 to 100% similarity between the patient virus and worldwide sequences. This report suggests a possible association of SARS COV-2 infection with neurological symptoms of demyelinating disease, even in the absence of relevant upper respiratory tract infection signs.


1996 ◽  
Vol 6 (2) ◽  
pp. 82-85
Author(s):  
U.E. Pazzaglia ◽  
S. Binda ◽  
G. Zatti ◽  
V. Sessa

Two cases of pyomyositis in babies, one in the ilio-psoas muscle, the other in the quadriceps, are reported. The presenting sign was a painful hip in both, suggesting osteomyelitis of the proximal femur or arthritis. Pyomyositis is unusual in western countries and in healthy, well-nourished children, but these cases suggest considering this pathology in the differential diagnosis of a painful hip in babies. In the first case an upper respiratory tract infection was followed by haematogenous spread to the ilio-psoas muscle; in the second an injection of vaccine in the quadriceps played a determinant role. The latter case was complicated by secondary osteomyelitis; a metaphyseal radiolucent band just below the growth plate appeared in the early stage together with metaphyseal osteopenia and was interpreted as a consequence of altered blood flow in the metaphysis, not specific osteomyelitis, but indicative of some disturbance of the growth plate-metaphyseal complex.


2020 ◽  
Vol 8 (2) ◽  
pp. e001070 ◽  
Author(s):  
Silvia López-Tamayo ◽  
Ines Rubira ◽  
Marcelo De las Heras ◽  
Enrique Castells ◽  
Delia Lacasta

Chronic proliferative rhinitis (CPR) is a fatal prognosis upper respiratory tract disease that affects sheep and is associated with Salmonella enterica subspecies diarizonae serotype 61:k:1, 5, (7). It may be unilateral or bilateral, and although minor changes have been seen in dorsal turbinate, the ventral turbinate is always affected, which makes it possible to observe the proliferative tissue emerging from the nares.The following publication describes the case of an ewe severely affected by a bilateral inflammatory process of the upper respiratory tract. S enterica subspecies diarizonae was isolated from nasal swabs; however, the hottest area observed by a thermal imaging camera was not the ventral area, as usually seen in this process, but the middle area, where the dorsal turbinate is located. In addition, no proliferative tissue was seen through the nostril. At postmortem examination, it was confirmed that CPR seriously affected, for the first time, the dorsal turbinate and ethmoidal areas. Thermographic cameras are useful tools for the diagnosis of upper respiratory tract diseases in sheep.


2010 ◽  
Vol 59 (12) ◽  
pp. 1524-1526 ◽  
Author(s):  
Anais Potron ◽  
Jean-Luc Mainardi ◽  
Isabelle Podglajen ◽  
Fabienne Meunier ◽  
Marie-José Sanson-le Pors ◽  
...  

Aggregatibacter actinomycetemcomitans is commonly part of the normal microflora of the human upper respiratory tract. It has been implicated in periodontal disease and various infections, particularly endocarditis. We report here what we believe to be the first case of recurrent infective endocarditis due to A. actinomycetemcomitans in a 44-year-old woman occurring 5 years after the initial episode. Genomic analysis proved that the strains were closely related. Despite efficient antibiotic treatment, surgery was necessary for recovery.


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