Project description:RationaleSotos syndrome is an congenital overgrowth syndrome characterized by the primary features including overgrowth, distinctive facial features, learning disability, and accompanied with various second features. NSD1 deletion or mutation is a major pathogenic cause. Although there are some reports on treatment of this disease worldwide, less cases under treatment have been published in China.Patient concernsA 1-year-old boy had macrocephaly, gigantism, excessive high body height, a particular face and delayed development, with a pathogenic gene of NSD1 (NM_022455.5:c.3536delA in exon 5).Diagnosis and interventionsThe child was definitely diagnosed as Sotos syndrome and have 3 months' combination treatment of traditional Chinese medicine and rehabilitation.OutcomesThe child made a great progress in global development.LessonsThis case firstly describes the traditional Chinese medicine and rehabilitation to treat Sotos syndrome in China. There is no radical cure, but our therapy could improve the prognosis and the life quality of the patient. Therefore, this case provides a reference to the clinical treatment of Sotos syndrome.
Project description:We present the case of a 51-year-old patient with acute pericarditis as the dominant manifestation of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. The patient was admitted to the emergency department during a coronavirus disease 2019 (COVID-19) outbreak with a suspected ST-elevation myocardial infarction. A coronary angiogram was normal. Real-time reverse transcriptase PCR for the detection of nucleic acid from SARS-CoV-2 in a nasopharyngeal swab was positive. Laboratory tests revealed an increased white blood cell count, with neutrophilia and lymphocytopenia, elevated level of C-reactive protein, borderline elevated erythrocyte sedimentation rate, and slightly elevated interleukin 6. Echocardiography showed a hyperechogenic pericardium posterolaterally with minimal localized pericardial effusion. A chest computed tomography scan showed a small zone of ground-glass opacity in the right lower lobe (classified as CO-RADS 3). In patients with chest pain, ST elevation on electrocardiogram, a normal coronary angiogram, and suspected COVID-19, we should think of pericarditis as an unusual presentation of SARS-CoV-2 infection.
Project description:BackgroundPneumonia infected by Chlamydia abortus (C. abortus) is rare, especially complicated with severe acute respiratory distress syndrome (ARDS) and multiple organ dysfunction syndrome (MODS).Case presentationWe presented the clinical details of a 44-year-old male who was diagnosed with C. abortus pneumonia, which rapidly progressed and ultimately led to ARDS, sepsis and MODS. Although he was initially diagnosed with pneumonia upon admission, no pathogenic bacteria were detected in sputum by conventional tests. Empirical intravenous infusion of meropenem and moxifloxacin was administered, but unfortunately, his condition deteriorated rapidly, especially respiratory status. On Day 2 after extracorporeal membrane oxygenation (ECMO) initiation, metagenomic next-generation sequencing (mNGS) was performed on the patient's bronchoalveolar lavage fluid, which indicated an infection with C. abortus. The patient's antimicrobial therapy was adjusted to oral doxycycline (0.1g every 12h), intravenous azithromycin (0.5g every day), and imipenem and cilastatin sodium (1g every 6h). The patient's condition improved clinically and biologically. However, the patient was discharged due to financial reasons and unfortunately passed away eight hours later.ConclusionInfections with C. abortus can result in severe ARDS and serious visceral complications which necessitate prompt diagnosis and active intervention by clinicians. The case highlights the significance of mNGS as an essential diagnostic tool for uncommon pathogens. Tetracyclines, macrolides or their combinations are effective choices for treatment of C. abortus pneumonia. Further study is needed to explore the transmission routes of C. abortus pneumonia and establish precise guidelines for antibiotic treatment.
Project description:RationalTakotsubo cardiomyopathy (TCM) is a transient systolic dysfunction of the left ventricular apex without stenosis of coronary arteries and is induced by various psychological and physical factors. TCM sometimes causes lethal complications such as arrhythmia, thrombogenesis, and even cardiac rupture, and thus it should be diagnosed appropriately and managed carefully. Intensive care unit (ICU) patients are exposed to overstress during the treatment process and therefore can are at potential risk for TCM.Patient concernsThe patient was diagnosed as having pneumonia because of influenza A virus mixed with bacteria and underwent intensive care with intubation and mechanical ventilation in the ICU. His respiratory condition soon improved, and so extubation was carried out; however, redeterioration with pulmonary edema occurred at half of a day following extubation.DiagnosisThe chest x-ray revealed pulmonary edema. The electrocardiogram pattern significantly changed with time, and the echocardiogram showed weakness of wall motion around the left ventricular apex. Hence, to confirm the diagnosis, we performed cardiac catheterization immediately, with the results showing a Takotsubo-like form at the systolic phase without significant stenosis of the coronary arteries.InterventionThe patient was reintubated with administration of catecholamine for decreasing blood pressure caused by left ventricular dysfunction. Also, diuretics for pulmonary edema and anticoagulants for prevention of thrombogenesis were administered.OutcomesAs the respiratory condition improved with stabilization of cardiovascular hemodynamics, reextubation was done at ICU day 11 and was discharged from the ICU at ICU day 15. The patient was subsequently treated for pneumonia after leaving the ICU but suffered from repetitive aspiration pneumonia and was finally transferred to another hospital at hospital day 111.LessonsTCM should be considered especially under the situation of intensive care, and prompt diagnosis should be followed by appropriate management.
Project description:Acute respiratory distress syndrome has not been a described complication of hypothermia. Causes of hypothermia are commonly associated with alcohol abuse and infection, both of which could lead to acute respiratory distress syndrome. We present a case of severe hypothermia complicated by acute respiratory distress syndrome in a young immunocompetent male treated successfully with mechanical intubation and venovenous extracorpeal membrane oxygenation. Risk factors for known causes of acute respiratory distress syndrome included a witnessed aspiration event and RSV pneumonia. On review of the literature, severe hypothermia has been found to cause pulmonary edema in post-mortem studies, but acute respiratory distress syndrome has not yet been recognized as a known complication. Our case highlights that acute respiratory distress syndrome may be multifactorial in etiology and related to complications of severe hypothermia.
Project description:Acute respiratory distress syndrome (ARDS) is an uncommon, highly fatal, and poorly understood manifestation of blastomycosis. Optimal management remains unknown, including the roles of adjunctive corticosteroids and extracorporeal membrane oxygenation (ECMO).We conducted a retrospective chart review of patients with ARDS caused by blastomycosis, managed in intensive care units in Manitoba, Canada, from 1992 to 2014. ARDS was defined using the Berlin definition. Corticosteroid therapy was defined as ?150?mg cortisol equivalent in 24?hours. Logistic regression was used to identify determinants of a fatal outcome, and bootstrap resampling was used to assess sample size requirements.Forty-three patients with ARDS caused by blastomycosis were identified. ARDS was mild, moderate, and severe in 2 (5%), 12 (28%), and 29 (67%) patients, respectively. Management included amphotericin B (n?=?42, 98%), vasopressors (n?=?36, 84%), corticosteroids (n?=?22, 51%), renal replacement (n?=?13, 30%), and ECMO (n?=?4, 11%). Seventeen patients (40%) died. All patients treated with ECMO survived (P?=?0.14). Corticosteroids were not associated with survival benefit in univariate (P?=?0.43) or multivariate analyses (odds ratio 0.52, 95% confidence interval 0.11-2.34). Bootstrap studies indicated that almost 500 patients would be needed to confirm a significant reduction in mortality from corticosteroids (type I error?=?0.05, power?=?80%).Blastomycosis is an uncommon, albeit important, cause of ARDS in this geographic area. Given the rarity of disease and the large cohort needed to demonstrate mortality benefit, the role of adjunctive therapies, including corticosteroids and ECMO, may remain unconfirmed, and clinical judgment should guide management decisions.
Project description:BackgroundThis case of psittacosis in children, is the first described in literature, in Italy. This respiratory infection can be transmitted to humans from the inhalation of respiratory secretions, feces and plumage aerosol of infected birds (and other animals). Usually it can have an asymptomatic or paucisymptomatic course, and the onset is often flu-like, but in this case the child risked his life for a severe respiratory failure. This report is unique because in children psittacosis is rare, and always misdiagnosed, or could cause a delayed diagnosis because of lack of awareness among the paediatricians and physicians. Furthermore, psittacosis enters a differential diagnosis with SARS-COV2 infection because both diseases may determine dyspnea and atypical pneumonia, up to acute respiratory failure.Case presentationThis clinical case talks about a three-and-a-half-year-old male child affected by psittacosis (or ornithosis), with severe dyspnea and systemic symptoms who required oro-tracheal intubation for acute respiratory failure. The child had slept in a room at home, with some recently bought parrots affected by psittacosis. Initially the child was treated with empiric antibiotic therapy (i.v.ceftriaxone and teicoplanin), but after having isolated the DNA of the germ "Chlamydia psittaci" in both serological and through bronchoalveolar lavage (BAL), he was treated with targeted antibiotic therapy: tetracyclines (doxicillin).ConclusionsPsittacosis is an extremely contagious disease, caused by an intracellular germ, called "Chlamydia psittaci", a Gram-negative bacterium, transmitted to humans in particular by infected birds, responsible for atypical pneumonia, with acute and chronic respiratory symptoms, sometimes with multi-organ failure and disseminated intravascular coagulation. Even if it is a rare respiratory disease among children, a good doctor must think about psittacosis as cause of respiratory symptoms (and not only flu or SARS-COV2), above all through a correct medical history, in order to provide a targeted antibiotic therapy. An interesting case of psittacosis in a child is being reported here, which has been treated successfully with doxycillin.
Project description:Wiskott-Aldrich syndrome (WAS) is a rare X-linked immunodeficiency disorder caused by abnormal expression of Wiskott-Aldrich syndrome protein due to WAS gene mutation, which is generally characterized by microthrombocytopenia, eczema, recurrent infections, and high risk of autoimmune complications and hematological malignancies. Although affected males with WAS usually manifest severe symptoms, female carriers have no significant clinical manifestations. Here, we describe a Chinese girl diagnosed with WAS carrying a heterozygous missense mutation in exon 2 of the WAS gene. The patient presented with persistent thrombocytopenia with small platelets and decreased WAS protein detected by flow cytometry and western blot analysis. The methylation analysis of the HUMARA gene displayed an extremely skewed X-chromosome inactivation (SXCI) pattern, where the X-chromosomes bearing normal WAS gene were predominantly inactivated, leaving the mutant gene active. Hence, our results suggest that completely inactivating the unaffected paternal X-chromosomes may be the reason for such phenotype in this female patient. SXCI has important implications for genetic counseling of female carriers with a family history of WAS.
Project description:Sengers syndrome (OMIM #212350) is a rare autosomal recessive disorder due to mutations in acylglycerol kinase (AGK) gene. We report two cases that were diagnosed clinically and confirmed genetically. Both infants had typical clinical features characterized by hypertrophic cardiomyopathy, bilateral cataracts, myopathy, and lactic acidosis, and heart failure was the most severe manifestation. Genetic testing of a boy revealed a homozygous pathogenic variant for Sengers syndrome in AGK (c.1131+2T>C) which was classified as likely pathogenic according to the ACMG guideline; besides, his skeletal muscle biopsy and transmission electron microscope presented obvious abnormity. One girl had compound heterozygous (c.409C>T and c.390G>A) variants of AGK gene that was identified in the proband and further Sanger sequencing indicated that the parents carried a single heterozygous mutation each. After the administration of "cocktail" therapy including coenzyme Q10, carnitine, and vitamin B complex, as well as ACEI, heart failure and myopathy of the boy were significantly improved and the condition was stable after 1-year follow-up, while the cardiomyopathy of the girl is not progressive but the plasma lactate acid increased significantly. We present the first report of two infants with Sengers syndrome diagnosed via exome sequencing in China.