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.
Project description:Differential diagnosis of chest pain in the pediatric population is important but can be challenging. A 12-year-old boy with Duchenne muscular dystrophy presented with chest pain, cardiac enzyme elevation, and convex ST elevations in the inferior leads with reciprocal ST depression in the anterior leads on electrocardiogram. Echocardiography on admission revealed normal left ventricular function. Suspecting acute myocardial infarction, we performed invasive coronary angiography, which revealed normal coronary arteries. A follow-up electrocardiogram showed an acute pericarditis pattern with concave ST elevations in most leads and PR depression, and follow-up echocardiography revealed global left ventricular dysfunction, suggestive of acute perimyocarditis. Ibuprofen was administered for acute pericarditis, and a continuous milrinone infusion was commenced for myocardial dysfunction. The chest pain improved by the next day, and the ST segment elevations normalized on day 4. Echocardiography on day 9 revealed improved left ventricular function. The patient was discharged on day 11, and he is doing well without chest pain through 12 months of follow-up. The last electrocardiogram showed normal sinus rhythm without ST change. Differential diagnosis of acute myocardial infarction and acute perimyocarditis is important for proper treatment strategies and the different prognoses of these two conditions.
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.
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.
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.
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.