A 12-year-old boy with fever and weight loss.
Ontology highlight
ABSTRACT:
SUBMITTER: van Buuren A
PROVIDER: S-EPMC8448499 | biostudies-literature |
REPOSITORIES: biostudies-literature
Similar Datasets
Project description:Melkersson-Rosenthal syndrome (MRS) is an uncommon granulomatous disease characterized by the triad of relapsing facial paralysis, orofacial swelling, and fissured tongue. Genital swelling in MRS is rarely reported. We presented the first case of complete MRS with genital swelling in a child. Biopsy examinations of both the child's lower lip and penis showed noncaseating granuloma and intralymphatic granuloma infiltration. No symptoms or signs of other systemic disease (Crohn's disease or sarcoidosis) were observed after 2 years of follow-up. Genetic screening for CARD15/NOD2 in this patient showed negative, which further confirmed the diagnosis of MRS. Eleven other cases of suspected complete or incomplete MRS with genitalia involved were reviewed. Our case emphasizes the specific clinical feature of MRS with genitalia involved, which was genetically different from Crohn's disease and could be an independent entity. Lymphatic obstruction is responsible for localized edema in MRS.
| S-EPMC4828388 | biostudies-literature
Project description: Not available
| S-EPMC3707995 | biostudies-literature
Project description:Congenital Methemoglobinemia is a rare neurologic condition which can mimic other diseases such as epilepsy syndromes and leukodystrophies. The responsible gene, CYB5R3, is not typically included on commonly order neurologic and epilepsy panels. We recommend that laboratories include this gene on these tests which often precede larger-scale genetic studies.
| S-EPMC5771927 | biostudies-literature
Project description: Not available
| S-EPMC7924538 | biostudies-literature
Project description:Netherton syndrome (NS) is a rare autosomal recessive disorder, characterized by a classical triad of clinical features, including congenital ichthyosiform erythroderma, trichorrhexis invaginata, and atopic diathesis coupled with frequent bacterial infections (1). The genetic basis for the disease has been recently identified with mutations in gene SPINK5, which is involved in the regulation of formation of skin barriers. We report on a 16-year-old male with all the typical manifestations of NS, including atopic diathesis and ongoing serious staphylococcal infections and allergy to multiple antibiotics whose family sought help at the Eliava Phage Therapy Center when all other treatment options were failing. Treatment with several antistaphylococcal bacteriophage preparations led to significant improvement within 7?days and very substantial changes in his symptoms and quality of life after treatment for 6?months, including return visits to the Eliava Phage Therapy Center after 3 and 6?months of ongoing use of phage at home.
| S-EPMC5494523 | biostudies-literature
Project description:PurposeTo describe an unusual case of Bartonella henselae neuroretinitis complicated by macular hole (MH) development.ObservationsA full-thickness macular hole developed in a 12-year-old boy in association with serology-confirmed Bartonella henselae neuroretinitis. Following a period of observation, the MH closed without intervention.Conclusion and importanceMH may occur as a complication of neuroretinitis secondary to Cat-Scratch Disease.
| S-EPMC6630014 | biostudies-literature
Project description:Introduction and importanceAnaplastic Large-cell Lymphoma (ALCL) is a rare but aggressive type of NHL that develop from mature post-thymic T-cells. ALCL constitutes approximately 2% of all lymphoid neoplasm. It is typically found among children and young adults, accounting for 10-15% of pediatric NHL, compared to 2% of adult NHL.Case presentationA 12-year-old Syrian boy was admitted to our hospital due to epistaxis, anorexia, weight loss and night sweats. The physical examination revealed preauricular, postauricular and submandibular lymphadenopathy. Pathological examination of the biopsy suggested Classical Hodgkin Lymphoma. Later on, Immunohistochemistry staining confirmed the diagnosis of ALK-negative Anaplastic Large Cell Lymphoma.Clinical discussionSystemic ALCL can be categorized into two major groups based on the expression of Anaplastic Lymphoma Kinase (ALK) protein: Systemic ALK + positive and Systemic ALK-negative. The majority of pediatric cases show an overexpression of (ALK), however, pediatric ALK-negative ALCL can occur in rare cases.ConclusionThe aim of this article is to report a rare case of pediatric ALK-negative anaplastic large cell lymphoma that developed a rapid & aggressive growth within a few months despite the chemotherapy treatment and unfortunately led to the patient's death.
| S-EPMC9289481 | biostudies-literature
Project description:BackgroundThe Canadian Assessment of Physical Literacy (CAPL) is divided into four domains (Physical Competence, Daily Behaviour, Motivation and Confidence, and Knowledge and Understanding) and provides a robust and comprehensive assessment of physical literacy. As weight status is known to influence health-related behaviours such as physical fitness and activity, it is important to investigate whether the associations between the domains of physical literacy vary among children of different weight status. The aim of this study was to determine the associations among the four domains of physical literacy stratified by weight status.MethodsCanadian children aged 8 to 12 years (n = 8343, 63.6% healthy-weight) completed the CAPL. Differences in domain scores and overall physical literacy score by weight status (children of healthy weight versus children with overweight/obese) were assessed using MANOVA (multivariate analysis of variance). Partial correlations between the four domains were calculated, adjusting for gender and age, and correlation coefficients of both weight status groups were compared using the Steiger test.ResultsFor all four domains as well as overall physical literacy, healthy-weight children had higher scores than their overweight/obese peers (Cohen's d ranged from 0.05 to 0.44). Weak to moderate correlations were found between all of the domains for both groups. Correlation coefficients for Physical Competence and Daily Behaviour as well as for Physical Competence and Knowledge and Understanding were generally stronger in the healthy-weight children (r = 0.29 and 0.22, respectively) compared with the overweight/obese children (r = 0.23 and 0.17, respectively).ConclusionsAll of the domains of the CAPL correlate positively with each other regardless of weight status, with a trend for these correlation coefficients to be slightly stronger in the healthy-weight children. The overall weak to moderate correlations between the domains in both groups suggest that the CAPL domains are not measuring the same constructs, thus providing support for CAPL's psychometric architecture in both healthy-weight and overweight/obese children.
| S-EPMC6167768 | biostudies-literature
Project description:Introduction:Prinzmetal's angina is a very rare disease in children and adolescents. Adults' studies suggest that vasospastic angina is more common in patients with bronchial asthma than in the general population. Case presentation:A 16-year-old boy with a history of bronchial asthma was admitted to the hospital after successful resuscitation from asystole. On the day of admission, he had a severe left shoulder pain and developed cardiac arrest. He was complaining of left shoulder pain throughout the previous year. During his hospital stay, a second cardiac arrest took place with inferior ST elevation of the electrocardiography recorded after the second successful resuscitation. Diagnostic coronary angiography revealed multiple spasms throughout the coronary bed, which was completely resolved after intracoronary nitroglycerine administration. The patient was diagnosed Printzmetal's vasospasic angina, and the symptoms disappeared gradually with up-titration of a calcium channel blocker and a nitrate. Discussion:Previous studies have suggested that the pathogenesis of Prinzmetal's vasospastic angina may be similar to that of bronchial asthma, as we see in the presentation of this young patient.
| S-EPMC6177102 | biostudies-literature
Project description:Dermatomyositis is a well-known autoimmune disorder. On the other hand, juvenile amyopathic dermatomyositis (JADM) occurs rather rarely. Here, we report an unusual case in a 9-year-old Turkish boy showing a unilateral linear inflammatory skin lesion that was followed, after 16 months, by the appearance of bilateral disseminated features JADM.
| S-EPMC5527735 | biostudies-other