A novel variant in a Chinese boy with lysinuric protein intolerance: A case report and literature review.

We report a case of a 4-year-old boy with lysinuric protein intolerance in China. The patient presented with interstitial lung disease with obvious clubbing of the fingers and toes. During the course of diagnosis and treatment, we found he was averse to a high-protein diet, intolerant to activity, and had a history of diarrhea and fractures. Physical examination revealed hepatosplenomegaly and clubbing of the fingers and toes. Next-generation sequencing revealed compound heterozygous mutations (c.1387delG, c.958T > C) in SLC7A7, which was confirmed as a disease-causing gene for lysinuric protein intolerance. After a literature review, we found that c.958T > C had not been previously reported, and summarized the clinical and genetic characteristics of patients from different continents. His symptoms improved significantly after 3 months of being on a low-protein diet, supplementation with lysine, citrulline, carnitine, and trace elements, and oral corticosteroid treatment for 2 months. The patient is still under follow-up.

Diagnosis and treatment of diffuse pulmonary lymphangioma in children: A case report.

The present study aimed to investigate the clinical characteristics of diffuse pulmonary lymphangioma (DPL) in children to improve the diagnosis and treatment of this disease. A case of pediatric DPL was observed for its clinical symptoms, imaging features, lung biopsy pathological characteristics and immunohistochemical phenotypes, and relevant literature was also reviewed. The main clinical manifestations of this pediatric patient were a cough, shortness of breath, hemoptysis, bloody chylothorax and pericardial effusion. Chest computed tomography showed a grid-like shadow and markedly thickened interlobular septa. Pathological examination revealed lymphatic vessel hyperplasia and expansion. Immunohistochemistry showed positive staining of lymphatic endothelial cells CD31 and D2-40. The patient's condition improved after combined treatment with methylprednisone, propranolol, sirolimus and somatostatin, whose bloody chylothorax also achieved good therapeutic effect after conservative treatment. Overall, the clinical and imaging appearances of DPL are lack of characterization, and its clinical manifestations include cough, shortness of breath and chylothorax. Computed tomography may show mesh-like shadows of both lungs and thickened interlobular septa. The definite diagnosis of DPL depends on biopsy pathology. In addition to this case, B-ultrasound-guided puncture biopsy is effective and safe, and propranolol-sirolimus treatment has a certain effect, but the clinical effect may be different. Conservative treatment of pleural effusion can result in better curative effect.

The effect of therapeutic bronchoalveolar lavage in combination with glucocorticoids on children with acute exogenous lipoid pneumonia.

BACKGROUND: Exogenous lipoid pneumonia (ELP) is a rare disease caused by the inhalation of oily materials in the alveoli with the pathological characterization by the presence of laden-lipid macrophages in the respiratory specimens. At present, the treatment norm for ELP has not well defined, and so the aim of this study is to evaluate the effect of bronchoalveolar lavage in combination with glucocorticoids on children with ELP. METHODS AND MATERIALS: We retrospectively reviewed 17 children with a confirmed history of exogenous oily materials aspiration, admitted to the First Affiliated Hospital of Guangzhou Medical University from June 2012 to December 2021. Clinical features, blood investigations, tomographic evaluations, therapeutic bronchoalveolar lavage and glucocorticoids use were carried out at the beginning of therapy and throughout a follow-up period. RESULTS: The included children are the median age of 2 years. Fever, dypnea and tachypnea were the most common symptoms. The most common radiological features were airspace consolidations (15, 93.75%). Chest CT scans showed areas of consolidation with air bronchogram (15, 93.75%), poorly defined centrilobular nodules (13, 81.25%), areas of ground-glass attenuation (11, 68.75%) and 'crazy-paving' pattern (6, 37.5%) in the both lower, right middle lung lobes. Neutrophil percentage of peripheral blood and bronchoalveolar lavage fluid exhibited a significantly higher than the normal range. After treatment with multiple bronchoalveolar lavages and local administration of budesonide during the hospital stay, taken by oral prednisolone (1 ~ 2 mg/kg) after discharge, all of children became asymptomatic and presented normal radiological imagings in the follow-up period. CONCLUSION: The most frequently findings in the CT scan of ELP were consolidations and ground-glass attenuation in the both lower and right middle lung lobes. Multiple bronchoalveolar lavages in combination with oral prednisolone for children who had a confirmed history of exogenous oily substances ingestion were an efficient and safe for the clearance of oily materials from the lung and the prevention of fibrosis. This strategy contributed to reducing the damage of ELP in children patients.

B-lymphocyte deficiency and recurrent respiratory infections in a 6-month-old female infant with mosaic monosomy 7.

Monosomy 7 is generally considered as an acquired cytogenetic abnormality within hematopoietic cells, and indicates an especially high risk of progression to bone marrow failure, myelodysplastic syndrome (MDS) or juvenile myelomonocytic leukemia (JMML). We report a case of a 6-month-old female infant with mosaic monosomy 7 who presented with clinical and laboratory evidences of immunodeficiency. The patient had suffered from recurrent respiratory infections since she was born. Peripheral blood lymphocyte subsets revealed an extremely low level of CD19+ B lymphocytes (0.3∼0.8%, normal range: 6.4∼22.6%) and a decreased CD4/CD8 ratio (0.67∼1.12, normal range: 1.4∼2.0). Decreased serum levels of IgG (1.53 g/L, normal range: 4.09∼7.03 g/L), IgA (0.10 g/L, normal range: 0.21∼0.47 g/L) and IgM (0.26 g/L, normal range: 0.33∼0.73 g/L) were detected, while complements were normal. Excepting transient neutropenia, routine blood tests were within normal limits. Clinical exome sequencing identified a de novo mosaic monosomy 7, while no pathogenic mutation associated with immunodeficiency was detected. However, peripheral blood cytogenetic analysis was failure to detect monosomy 7 due to the very few cell mitosis. Subsequent fluorescence in situ hybridization (FISH) identified a mosaic monosomy 7 in 58 cells within a total number of 100 cells, which was consistent with clinical exome sequencing. Therefore, the patient was diagnosed with primary immunodeficiency disease (PID) due to mosaic monosomy 7. Intravenous treatment with multiple antibiotic agents and infusion of gamma globulin could control the patient's respiratory infections effectively. A better understanding of PIDs will enable effective treatments and prevention of infections in these patients.

An analysis of 20 clinical cases of refractory mycoplasma pneumonia in children.

BACKGROUND: Refractory mycoplasma pneumonia (RMPP) is one of the important pathogens of community-acquired pneumonia (CAP) in children. Its treatment is difficult. The aims of this study were to analyze the clinical manifestations, diagnosis, and treatment of 20 cases of RMPP in children in order to provide a reference for the diagnosis and treatment of RMPP. METHODS: The clinical data of 20 patients with RMPP admitted to the Pediatrics Department of the First Affiliated Hospital of Guangzhou Medical University in the recent three years were retrospectively analyzed. The clinical data of 36 patients with common mycoplasma pneumonia in the same period were compared. The clinical manifestations, laboratory examinations, and imaging characteristics of RMPP were discussed. Intrapulmonary and extrapulmonary complications and treatment were also analyzed in order to provide assistance in the diagnosis and treatment of RMPP. RESULTS: There were significant differences between the refractory group and the general group in terms of heat duration, hospitalization time, hypoxemia, lung rales, CRP, ESR, PCT, LDH, ALT, PLT, WBC, D dimer and other laboratory examinations, intrapulmonary and extrapulmonary complications, and treatment (all P<0.05). There was no significant difference in the age, sex, and wheezing between the two groups (P>0.05). CONCLUSIONS: Long duration of fever, tachycardia, and lung rale protrusion may be the clinical characteristics of RMPP. Unilateral pulmonary shadow and atelectasis should be paid more attention, which may be a high-risk factor for the development of RMPP. The inflammation index of RMPP cases increased and there were many complications inside and outside the patients' lungs. It was necessary to give enough macrolides to fight the infection by using Glucocorticoid and Intravenous immunoglobulin reasonably while liver, heart, and fiberoptic bronchoscopy was completed to improve the effectiveness of the diagnosis and treatment.