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sjogren syndrom in childhood

Naoto Yokogawa, Scott M Lieberman, David D Sherry, Frederick B Vivino
OBJECTIVES: To describe the clinical features of childhood Sjögren's syndrome (SS) in comparison to adult SS and to evaluate possible child-specific modifications to existing adult criteria for use in diagnosing childhood SS. METHODS: We retrospectively identified children (age <18 years) with SS and compared the clinical, laboratory, and histopathological features of these children based on presence or absence of parotitis. We compared these features to adults with SS and evaluated the applicability of existing classification criteria in diagnosing childhood SS...
March 2016: Clinical and Experimental Rheumatology
Anna Sällfors Holmqvist, Jørgen H Olsen, Lene Mellemkjaer, Stanislaw Garwicz, Lars Hjorth, Christian Moëll, Bengt Månsson, Laufey Tryggvadottir, Henrik Hasle, Jeanette Falck Winther
OBJECTIVES: The pattern of autoimmune diseases in childhood cancer survivors has not been investigated previously. We estimated the risk for an autoimmune disease after childhood cancer in a large, population-based setting with outcome measures from comprehensive, nationwide health registries. METHODS: From the national cancer registries of Denmark, Iceland and Sweden, we identified 20 361 1-year survivors of cancer diagnosed before the age of 20 between the start of cancer registration in the 1940s and 1950s through 2008; 125 794 comparison subjects, matched by age, gender and country, were selected from national population registers...
September 2016: Annals of the Rheumatic Diseases
Yoriko Matsui, Toshiki Takenouchi, Atsushi Narabayashi, Kentaro Ohara, Tadaki Nakahara, Takao Takahashi
Sjögren syndrome is an autoimmune disease characterized by dry mouth and eyes, known as sicca symptoms. The exact spectrum of neurological involvement, especially of the central nervous system, in childhood Sjögren syndrome has not been well defined. We report a girl who presented with acute febrile brainstem encephalitis. In retrospect, she had exhibited a preceding history of recurrent conjunctivitis and strong halitosis that could be considered as sicca symptoms. The histopathology results of a minor salivary biopsy, the presence of anti-SSA/Ro antibody, and keratoconjunctivitis confirmed the diagnosis of Sjögren syndrome...
January 2016: Brain & Development
Zohreh Tatari-Calderone, Naomi L C Luban, Stanislav Vukmanovic
The search for genetic determinants of alloimmunization in sickle cell disease transfusion recipients was based on two premises: i) that polymorphisms responsible for stronger immune and/or inflammatory responses and hemoglobin β(S) mutation were co-selected by malaria; and ii) that stronger responder status contributes to development of lupus. We found a marker of alloimmunization in the gene encoding for Ro52 protein, also known as Sjögren syndrome antigen 1 (SSA1) and TRIM21. Surprisingly, the nature of the association was opposite of that with lupus; the same variant of a polymorphism (rs660) that was associated with lupus incidence was also associated with induction of tolerance to red blood cell antigens during early childhood...
November 2014: Transfusion Medicine and Hemotherapy
Asim K Bag, Jake J Davenport, James R Hackney, Rasmoni Roy, Hassan M Fathallah-Shaykh
History A previously healthy 23-year-old white man presented to the emergency department of our hospital with a 2-month history of dysarthria, progressively worsening vertigo, and difficulty walking. A diagnosis of retinitis pigementosa was made in this patient's childhood. He did not have any history of congenital syphilis. He did not have a history of nausea or vomiting, fever, weight loss, headache, photophobia, seizure, extremity weakness, or sensory disturbance. Physical examination revealed dysarthria, dysmetria, and ataxia...
December 2014: Radiology
Juan Carlos Nieto-González, Indalecio Monteagudo, Natalia Bello, Lina Martínez-Estupiñan, Esperanza Naredo, Luis Carreño
Primary Sjögren's syndrome (pSS) is a systemic autoimmune disease uncommon in children, clinically characterized by recurrent parotitis at the onset, which is a common disorder in childhood, most of them of infectious origin. Juvenile pSS diagnosis is based on clinical symptoms and presence of autoantibodies, after exclusion of infectious or lymphoproliferative diseases. However, salivary gland ultrasound (SGU) shows typical features of pSS that can add useful information for the diagnosis of this disorder...
July 2014: Clinical and Experimental Rheumatology
Naoto Yokogawa, Scott M Lieberman, Faizan Alawi, Sharon Bout-Tabaku, Marta Guttenberg, David D Sherry, Frederick B Vivino
OBJECTIVE: To determine an appropriate focus score cutoff for childhood Sjögren syndrome (SS). METHODS: Labial salivary gland tissue from specimens from children with SS and age-matched controls was retrospectively identified and reviewed by a blinded oral pathologist. RESULTS: The presence of any focal sialadenitis (focus score > 0 foci/4 mm(2)) was common among childhood SS samples but present in only 1 of 8 control samples. CONCLUSION: The presence of any focal lymphocytic sialadenitis in minor labial salivary gland tissue is suggestive of childhood SS and should be included in future childhood SS-specific diagnostic or classification criteria...
June 2014: Journal of Rheumatology
Masahide Goto, Mari Okada, Hirofumi Komaki, Kenji Sugai, Masayuki Sasaki, Satoru Noguchi, Ikuya Nonaka, Ichizo Nishino, Yukiko K Hayashi
BACKGROUND: Marinesco-Sjögren syndrome (MSS) is an autosomal recessive multisystem disorder characterized by the tetralogy of cerebellar ataxia, congenital cataracts, intellectual disability, and progressive muscle weakness due to myopathy. MSS is extremely rare, and its clinical, pathological, and genetic features are not yet fully understood. METHODS: We conducted a nationwide, questionnaire-based survey on MSS in Japan and carefully reviewed the medical records of 36 patients suspected of having this disease...
2014: Orphanet Journal of Rare Diseases
X Li, B Qu, Y Nie, G Zhu, W Li, F Mu
OBJECTIVE: Macrophage activation syndrome (MAS) is a relatively rare but potentially fatal complication of childhood rheumatic illnesses. We sought to provide insight for the timely recognition and diagnosis of MAS and efficacious disease management in adults with rheumatic diseases. METHODS: Clinical files for eight adult MAS patients treated at the Second Affiliated Hospital of Harbin Medical University were analyzed for clinical manifestations, laboratory investigations, therapeutic measurements and clinical outcomes...
July 2014: Lupus
Pei-Hsuan Chen, Yao-Hsu Yang, Yu-Tsan Lin, Jyh-Hong Lee, Li-Chieh Wang, Hsin-Hui Yu, Bor-Luen Chiang
This study aimed to characterize the manifestations of clinical symptoms and signs, primary rheumatic diseases, and other autoantibodies in pediatric patients with positive anti-SSA and/or anti-SSB antibodies. Subjects under age 18 with positive anti-SSA and/or anti-SSB antibodies were screened and enrolled in a tertiary hospital in Taiwan. Data were collected via medical records,including age, gender, onset of the primary rheumatic disease, clinical symptoms and signs, and the medication used. Schirmer test for Sjögren's syndrome (SS) screening was performed in all enrolled patients...
August 2014: Rheumatology International
V L S Marques, R C Gomes, G R Viola, M M Maia, G S Durigon, N E Aikawa, C Artur Silva
Meningitis is the main manifestation of cryptococcosis in adult systemic lupus erythematosus (SLE) patients, and other organs and systems, such as the lungs, are rarely affected in this fungal infection. To our knowledge, no case of pulmonary cryptococcosis has been described in the pediatric lupus population. Therefore, we report herein one patient with childhood SLE (C-SLE) and Sjögren's syndrome overlap that presented encapsulated Cryptococcus yeast cells in lung tissue. A 14-year-old girl was diagnosed with C-SLE...
November 2013: Lupus
Scott M Lieberman
PURPOSE OF REVIEW: Sjögren syndrome is a chronic autoimmune disease affecting lacrimal and salivary glands that often is accompanied by extraglandular disease manifestations. Although common in adults, the prevalence and prognosis of childhood Sjögren syndrome are unknown, in part due to lack of child-specific diagnostic and classification criteria. This review discusses difficulties in diagnosing childhood Sjögren syndrome and highlights recent findings in Sjögren syndrome treatment and pathogenesis from studies in adults and animal models over the past 18 months...
September 2013: Current Opinion in Rheumatology
Gordana Susić, Roksanda Stojanović, Vera Milić, Ivan Boricić, Bojan Mandić, Svetislav Milenković
INTRODUCTION: Sjögren's syndrome (SS) is an autoimmune disease of unknown etiology, clinically manifested by dry eyes (xerophthalmia) and dry mouth (xerostomia). In childhood SS is a rare disease, clinically atypically or asymptomatic and is often unrecognized. We report a girl with asymptomatic, juvenile form of primary Sjögren's syndrome (JSS). CASE OUTLINE: A 13-year-old girl was initially observed for several months due to elevated sedimentation rate (ESR 75-90 mm/h) without signs of inflammation or other symptoms and disease signs...
March 2013: Srpski Arhiv za Celokupno Lekarstvo
Daniela Pohl, Susanne Benseler
Systemic disorders with possible involvement of the nervous system include a variety of diseases with presumed inflammatory and autoimmune pathomechanisms, among them Behçet disease, sarcoidosis, systemic lupus erythematosus, juvenile idiopathic arthritis, scleroderma, and Sjögren syndrome. This disease group encompasses systemic inflammatory disorders with a genetically defined dysregulation of the innate immune system as well as systemic autoimmune disorders characterized by alterations of the adaptive immunity such as autoantibodies and autoreactive T cells...
2013: Handbook of Clinical Neurology
Yasuji Inamo
Systemic sclerosis (SSc) is an uncommon connective tissue disease of childhood. Moreover, pediatric SSc positive for anticentromere antibodies (ACA) is extremely rare. We describe two cases of ACA-positive SSc in Japanese girls with clinical findings. Case 1 is a 15-year-old female. From disease onset at 7 years, she developed limited cutaneous (no internal involvement) SSc positive for ACA and anti-U1RNP antibodies, but negative for antitopoisomerase I antibodies (ATA). She also showed calcinosis, sclerodactyly, and telangiectasia, but not Raynaud's phenomenon...
December 2012: Pediatrics International: Official Journal of the Japan Pediatric Society
Radovan Bogdanović, Gordana Basta-Jovanović, Jovana Putnik, Nataša Stajić, Aleksandra Paripović
Renal tubular acidosis (RTA) is common in adults with primary Sjogren syndrome (pSS) but to date this condition has only been identified in 12 pediatric cases of pSS. Here we present the case of a 13-year-old, otherwise asymptomatic girl in whom the search for the etiology of incidentally found nephrocalcinosis led to diagnosis of distal RTA and nephrogenic diabetes insipidus secondary to SS-associated tubulointerstitial nephritis. Immunosupressive treatment and alkali/electrolyte supplementation resulted in stable renal function over the 6-year follow-up...
January 2013: Modern Rheumatology
Manuel J Amador-Patarroyo, Alberto Rodriguez-Rodriguez, Gladis Montoya-Ortiz
The age at onset refers to the time period at which an individual experiences the first symptoms of a disease. In autoimmune diseases (ADs), these symptoms can be subtle but are very relevant for diagnosis. They can appear during childhood, adulthood or late in life and may vary depending on the age at onset. Variables like mortality and morbidity and the role of genes will be reviewed with a focus on the major autoimmune disorders, namely, systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), multiple sclerosis (MS), type 1 diabetes mellitus (T1D), Sjögren's syndrome, and autoimmune thyroiditis (AITD)...
2012: Autoimmune Diseases
Uluç Yiş, Sebahattin Cirak, Semra Hız, Handan Cakmakçı, Eray Dirik
Marinesco-Sjögren syndrome is an autosomal recessive, multiorgan disorder with cardinal features of cerebellar ataxia, congenital or early childhood cataracts, psychomotor retardation, myopathy, and short stature. Mutations in the SIL1 gene on chromosome 5q31 were demonstrated to cause Marinesco-Sjögren syndrome. We describe two Turkish patients with clinical characteristics of Marinesco-Sjögren syndrome, but without mutations in SIL1. These two patients also manifested cerebral white matter involvement in cranial imaging, which was previously described in Marinesco-Sjögren syndrome...
December 2011: Pediatric Neurology
Joana Damásio, Hannemieke D W van der Lei, Marjo S van der Knaap, Ernestina Santos
BACKGROUND: Vanishing white matter is an inherited leukoencephalopathy with typical childhood onset. Late onset forms are rare and may present with an extended range of phenotypes. Case report We present a patient born to consanguineous parents who developed learning disabilities by the age of 16 years. At the age of 25 she had a focal motor seizure with subsequent hemiparesis. After an extensive investigation she was diagnosed and treated as multiple sclerosis. There was progressive memory and planning impairment and, six years later, Sjögren syndrome with central nervous system involvement was diagnosed...
March 15, 2012: Journal of the Neurological Sciences
Ambika P Ashraf, Timothy Beukelman, Valerie Pruneta-Deloche, David R Kelly, Abhimanyu Garg
CONTEXT: Type 1 hyperlipoproteinemia (T1HLP) in childhood is most often due to genetic deficiency of lipoprotein lipase (LPL) or other related proteins. OBJECTIVE: The aim was to report a case of marked hypertriglyceridemia and recurrent acute pancreatitis due to the presence of LPL autoantibody in a young girl who was subsequently diagnosed with Sjögren's syndrome. SUBJECT AND METHODS: A 9-yr-old African-American girl presented with acute pancreatitis and serum triglycerides of 4784 mg/dl...
November 2011: Journal of Clinical Endocrinology and Metabolism
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