Extensive Systemic Involvement Research Articles

Rare tumors in pediatric age group: Single center experience from Saudi Arabia.

Rare pediatric tumors are heterogeneous group containing a variety of histopathological diseases, they represent approximately 10% of all childhood cancers. These rare tumors had a diversity of histology and clinical behaviors that pose different challenges to the investigators. Exploring different pediatric rare tumors. The data were reviewed, retrospectively, through the medical records of seven rare pediatric diseases between 2012 and 2019. Giant cell fibroblastoma (GCF) presented as painless swelling in the trunk, positive for CD34 with PTEN gene mutation. Neuroglial heterotopic tissue presented in 7 days old girl with facial asymmetry and bulging in the oral cavity, maximal de-bulking was done, histopathology was positive for GFAP and S100p. Left side neck mass, surgically excised revealed non-metastatic salivary grand mucoepidermoid carcinoma. Follow up without any chemotherapy or radiotherapy for 5 years with complete remission. Mesenchymal chondrosarcoma (MCS) presented in maxillofacial bones by persistent nasal bleeding, HEY1-NCOA2 fusion gene confirmed the diagnosis. Extra-osseous Ewing sarcoma (EES) presented as rubbery painless swelling in the scalp with fusion transcript involving EWSR1-FL11. Juvenile xanthogranuloma (JXG) presented by butter fly like skin patch in the face with foamy histiocytes in upper dermis with few Touton giant cells, extensive systemic involvement of lung and bone marrow. Metastatic ovarian choriocarcinoma with choriocarcinoma syndrome received induction two different lines of chemotherapy and consolidated with autologous stem cell transplant. Seven pediatric rare tumors, with different aspects of challenges in diagnosis and management, despite the absence of formal protocols and rarity of other center experiences.

DRESS Syndrome- Uncommon Drug Reaction with Common Disease Treatment: A Case Report

Drug Reaction with Eosinophilia and Systemic symptoms (DRESS syndrome), is a severe adverse reaction associated with diverse collection of drugs, characterized by severe mucocutaneous rash, eosinophilia, fever, lymphadenopathy and extensive systemic involvement. We report a case of a 21-year-old female who developed clinical manifestations of fever, maculopapular rash, lymphadenopathy, eosinophilia and systemic symptoms after taking antitubercular medication for pulmonary tuberculosis, with subsequent development of acute liver failure with encephalopathy and coagulopathy. She was managed successfully with withdrawal of the offending medication and supportive care in intensive care unit. This case highlights the importance of consideration of antitubercular medication related drug reaction even with delayed onset of symptoms. J Microbiol Infect Dis 2020; 10(4): 225-229.

A de novo TBX3 mutation presenting as dorsalization of the little fingers: A forme fruste phenotype of ulnar-mammary syndrome

Ulnar-mammary syndrome (UMS) is a rare syndromic limb malformation caused by heterozygous mutations in TBX3. The name highlights the two commonly involved body parts i.e. mammary gland and ulnar ray of the upper limbs, although a more extensive systemic involvement is also known to occur. Here, we report the surprising finding of a patient with a de novo mutation in TBX3 whose clinical presentation is limited to dorsalization of both little fingers and slightly deep 4th web spaces. We review the literature to confirm that this should be considered as a forme fruste phenotype of UMS.

A Saudi Infant with Vici Syndrome: Case Report and Literature Review

INTRODUCTION:Vici syndrome, a rare autosomal recessive disorder, was first described in 1988 by Vici et al. Only 78 cases have been reported to date. The syndrome is characterised by agenesis of the corpus callosum, hypopigmentation, cardiomyopathy, progressive failure to thrive, dysmorphic features, immunodeficiency and cataracts. Mutations in the gene epg5 have been identified as the cause of Vici syndrome.CASE DESCRIPTION:The parents are a consanguineous Saudi couple with two other children diagnosed with Gaucher disease. The patient was born at term and in the first 5 months had many hospital admissions for a recurrent chest infection. Physical examination, investigations and imaging studies revealed that the patient had agenesis of the corpus callosum, cataracts, psychomotor delay, immunodeficiency and hypopigmentation. The initial echocardiogram was normal. At 7 months, genetic testing confirmed the diagnosis of Vici syndrome with a c.3693G>Ap (Gln1231Gln) mutation in the gene EPG5. The patient developed a chest infection and was admitted to the pediatric intensive care unit. An echocardiogram was repeated and showed significant left ventricular dilation with a Z-score of 3.1, moderate mitral and tricuspid regurgitation, and depressed ventricular function with a fractional shortening of 17% and ejection fraction 37%. The patient’s condition deteriorated, and he died aged 8 months.CONCLUSION:The symptoms of extensive system involvement in Vici syndrome have been present in the majority of reported cases and should prompt careful evaluation of this syndrome when such symptoms are present in an infant. In confirmed cases, close monitoring of the immune status and cardiac function, the two main causes of death among Vici syndrome patients, is vital to prevent rapid deterioration and improve life expectancy.

PP04.13 – 2780: The association of Moya Moya disease with pseudocoarctation: A case report

Objective Moya Moya disease is characterized by the progressive occlusion of the cerebral arteries at the circle of Willis, leading to formation of abnormal networks of small collateral vessels with a “puff of smoke” appearance on angiography. The classic pattern involves the distal internal carotid arteries bilaterally, but unilateral variants and involvement of additional anterior and posterior circulation vessels are well described. Coarctation of aorta is a rare association in Moya Moya disease. We present a case of Moya Moya disease and pseudocoarctation of aortic arch. Methods A 7-year-old girl was admitted with a brief loss of consciousness. History revealed clumsyness and frequent falls. All her developmental milestones were delayed comparing peers. Physical examination revealed slight left sided hemiparesis, dysmetria and dysdiadokinesia on the left side. Her EEG was normal. Brain magnetic resonance imaging (MRI) showed encephalomalacia in the right occipital lobe and conventional cerebral angiography revealed occlusion in several arteries including bilateral internal carotid arteries, bilateral anterior cerebral arteries, and bilateral posterior cerebral arteries and diffuse collateral vessels with a puff of smoke appearance. In echocardiographic study, aortic arch and isthmus was tortous, a gradient of 45 mmHg was measured between the proximal and distal parts of coarctation site by CW Doppler. Coarctation of aorta was suggested. Catheter angiography showed large dilated aortic arch kinking at before origin of left subclavian artery, without any pressure difference between the proximal and distal parts, pseudocoarctation was diagnosed. Aspirin was started for prevention of subsequent cerebral embolism. Results The diagnosis of Moya Moya disease was made based on conventional cerebral angiography findings. Conclusion The association of Moya Moya disease with aortic pseudocoarctation may be related to an extensive systemic involvement of blood vessels. Careful evaluation of children with Moya Moya disease is necessary to detect aortic coarctation.

Paracoccidioidomycosis in children and adolescents

Paracoccidioidomycosis (PCM) is an important systemic mycosis; it is restricted to Latin America, and Brazil is the most affected country. Children and adolescents account for approximately 5 to 10% of all cases with the acute form of the disease, which afflicts the mononuclear phagocytic system, in particular, lymph nodes and abdominal organs. Involvement of bones and joints has been observed more often in these age groups in recent years. Extensive systemic involvement as well as ascites, jaundice, and malnutrition is associated with worse prognosis. Intestinal malabsorption is the most serious sequel in young patients. Treatment with antifungal medication must be maintained for 18 to 24 months, and rigorous clinical and laboratory monitoring should be performed even after the suspension of the specific treatment. Disease relapses are frequent, mostly due to short treatments. About 10% of children and adolescents with PCM evolve to death.

Current concepts on diagnosis and treatment of mastocytosis.

Mastocytosis is a heterogeneous group of disorders characterized by a clonal proliferation and accumulation of mast cells in one or more organ, primarily in the skin and bone marrow. The clinical spectrum of the disease varies from relatively benign forms with isolated skin lesions to very aggressive variants with extensive systemic involvement and poor prognosis. The growth and proliferation of clonal mast cells is caused by an activating mutation of the tyrosine kinase receptor Kit for Stem Cell Factor, the main growth factor for mast cells. Clinical symptoms are related to mast-cell mediator release, to the tissue mast cell infiltration or both. The degree of infiltration and cell activation determines the highly variable clinical and morphological features. Current treatment of mastocytosis includes symptomatic, antimediator drugs and cytoreductive targeted therapies.

Variation in Genotype and Higher Virulence of a Strain of Sporothrix schenckii Causing Disseminated Cutaneous Sporotrichosis

Sporotrichosis is usually a localized, lymphocutaneous disease, but its disseminated type was rarely reported. The main objective of this study was to identify specific DNA sequence variation and virulence of a strain of Sporothrix schenckii isolated from the lesion of disseminated cutaneous sporotrichosis. We confirmed this strain to be S. schenckii by(®) tubulin and chitin synthase gene sequence analysis in addition to the routine mycological and partial ITS and NTS sequencing. We found a 10-bp deletion in the ribosomal NTS region of this strain, in reference to the sequence of control strains isolated from fixed cutaneous sporotrichosis. After inoculated into immunosuppressed mice, this strain caused more extensive system involvement and showed stronger virulence than the control strain isolated from a fixed cutaneous sporotrichosis. Our study thus suggests that different clinical manifestation of sporotrichosis may be associated with variation in genotype and virulence of the strain, independent of effects due to the immune status of the host.

Anaesthesia and the Sturge-Weber syndrome

We report a series of 13 patients with Sturge-Weber syndrome anaesthetised on 17 occasions. Anaesthesia management varied depending on the clinical manifestations which ranged from localized, superficial skin lesions to extensive systemic involvement. These patients tolerate anaesthesia well but anaesthetic management includes evaluation for associated anomalies. Difficulty with intubation may occur due to angiomas of the mouth and upper airway. Anaesthesia should be planned to avoid trauma to the haemangiomata and increases in intraocular and intracranial pressure.

Development of Verrucous Plaques and Gross Hematuria in Advanced Cutaneous T-Cell Lymphoma

To the Editor.— Cutaneous T-cell lymphoma (CTCL, mycosis fungoides) is a malignant neoplasm of helper T cells that may be protean in its clinical expression. Verrucous lesions are among the rarest of its morphological appearances and, as such, may be easily clinically confused with many nonmalignant conditions, including common warts and deep fungal infections, unless carefully examined histologically. This case report describes a patient who developed a widespread verrucous form of CTCL with extensive systemic involvement, which was demonstrated by the findings of bladder biopsy, thoracentesis, blood studies, and computed tomography, and who subsequently died of systemic lymphoma. Report of a Case.— In October 1986, a 29-year-old man was admitted to the Veterans Administration Medical Center, Birmingham, Ala, for gross hematuria. At that time, he was seen in dermatologic consultation for multiple verrucous lesions of his trunk and extremities. His medical history was remarkable for the diagnosis, by skin biopsy,

Influence of Bacterial Infection on Serum Enzymes of White Rats

Infection of white rats with Francisella tularensis (Pasteurella tularensis) and Salmonella typhimurium and exposure to the endotoxin of S. typhimurium stimulated significant increases in various serum enzymes including aldolase, lactate dehydrogenase, phosphohexose isomerase, isocitrate dehydrogenase, and glutamate-oxalacetate transaminase. The rates of changes in enzymatic activity after infection were directly related to the size of infecting dose and to the type of infective agent employed. Tularemic infection stimulated excessive changes in enzyme activity, whereas salmonellosis and endointoxication elicited less pronounced alterations of relatively short duration. Changes observed in serum enzymes after exposure to these agents reflect the severe liver damage and extensive systemic involvement noted in tularemia as opposed to more localized and less intensive tissue damage occurring during salmonellosis and endointoxication.

Influence of bacterial infection on serum enzymes of white rats.

Infection of white rats with Francisella tularensis (Pasteurella tularensis) and Salmonella typhimurium and exposure to the endotoxin of S. typhimurium stimulated significant increases in various serum enzymes including aldolase, lactate dehydrogenase, phosphohexose isomerase, isocitrate dehydrogenase, and glutamate-oxalacetate transaminase. The rates of changes in enzymatic activity after infection were directly related to the size of infecting dose and to the type of infective agent employed. Tularemic infection stimulated excessive changes in enzyme activity, whereas salmonellosis and endointoxication elicited less pronounced alterations of relatively short duration. Changes observed in serum enzymes after exposure to these agents reflect the severe liver damage and extensive systemic involvement noted in tularemia as opposed to more localized and less intensive tissue damage occurring during salmonellosis and endointoxication.