RESUMO
Background: The most common disorder of the intracellular cobalamin metabolism pathway is the combined methylmalonic acidemia and homocysteinemia, cblC type (cblC). There is a variation in its clinical spectrum ranging from severe neonatal-onset forms that are highly fatal to later-onset forms which are milder. In this study, the first case of an asymptomatic Chinese woman with a defect in congenital cobalamin (cblC type) metabolism at prenatal diagnosis due to elevated homocysteine level is identified. Case presentation: The proband, a male child born to a 29-year-old G1P0 mother, admitted to local hospital with feeding disorder, intellectual disability, seizures, microcephaly, as well as heterophthalmos. The level of the urine methylmalonic was elevated. Equally found were increased blood propionylcarnitine (C3) and propionylcarnitine/free carnitine ratio (C3/C0) and decreased methionine levels. The plasma total homocysteine level was elevated at 101.04 µmol/L (normal < 15 µmol/L). The clinical diagnosis of combined methylmalonic acidemia and homocysteinemia was supported. Four years later, the mother of the boy married again and came to us for prenatal diagnosis exactly 15 weeks after her last menstrual period. Subsequently, there is an increase in the amniotic fluid methylmalonate. The level of the amniotic fluid total homocysteine was marginally high. A considerably elevated amniotic fluid C3 was equally observed. In addition, there is a respective significant increase in the plasma and urine total homocysteine at 31.96 and 39.35 µmol/L. After the sequencing of MMACHC genes, it is found that the boy, a proband carried a homozygous mutation of the MMACHC at c.658_660delAAG. While the boy's mother, she carries two mutations in MMACHC: c.658_660delAAG and c.617G>A. The fetus is a carrier of the MMACHC gene. Following the administration of routine treatment, the mother remained symptom-free in the course of pregnancy, and she gave birth to a healthy boy. Conclusion: Variable and nonspecific symptoms characterized the cblC type of methylmalonic acidemia combined with homocysteinemia. Both biochemical assays and mutation analysis are recommended as crucial complementary techniques.
RESUMO
OBJECTIVE: Most of Endobronchial tuberculosis (EBTB) of children is caused by the bronchial erosion from the scrofula close to the bronchus. Due to its complicated mechanism, pediatricians have limited knowledge on the endobronchial tuberculosis, which makes the misdiagnosis rate high. This work explored the clinical features and diagnostic methods of endobronchial tuberculosis (EBTB), to improve the understanding of this disease. METHOD: A total of 102 cases with endobronchial tuberculosis (EBTB) were investigated by analyzing clinical and bronchoscopic features, imaging manifestation, PPD results and etiological examination; 71 cases were male, 33 were female, the youngest was 4 months old, and the oldest was 10 years old. The patients were treated in the fourth ward of the Department of Internal Medicine, Beijing Children's Hospital, Capital Medical University. RESULT: Of the 102 cases, 71 (69.6 percent) were infants and young children. (1) Age and clinical presentation: Infants and young children were more common, the main clinical manifestations were fever and cough, physical examination may find decreased breath sounds, wet and dry rale and wheezing. (2) In 81 cases who received CT there was bronchial obstruction, in 43 cases there were simultaneous manifestations of primary pulmonary tuberculosis (mediastinal and hilar lymph node enlargement and/or pulmonary consolidation), 21 cases had only manifestations of primary tuberculo. (3) The results of PPD: the positive rate was 95%. (4) Bronchoscopic feature: presence of mucosal swelling, caseous necrosis, bronchial stenosis/extrabronchial compression, granulomatous lesions and lymph node bronchial fistula. (5) Bacteriologic results: 21 patients were bacteriologically positive. CONCLUSION: Bronchial tuberculosis was more common in infants and young children, their major clinical manifestations were fever, cough, common findings on lung imaging was mediastinal and hilar lymph node enlargement and/or pulmonary consolidation, bronchial obstruction should be considered manifestations of bronchial tuberculosis, positive PPD should support the clinical diagnosis. Diagnosis can be confirmed by positive bacteriological tests.
