ABSTRACT
Ring chromosome is a structural abnormality that is thought to be the result of fusion and breakage in the short and long arms of chromosome. Wolf-Hirschhorn syndrome (WHS) is a well-known congenital anomaly in the ring chromosome 4 with a partial deletion of the distal short arm. Here we report a 10-month-old male of mosaic ring chromosome 4 with the chief complaint of severe short stature. He showed the height of -4 standard deviation, subtle hypothyroidism and mild atrial septal defect/ventricular septal defect, and also a mild language developmental delay was suspected. Brain magnetic resonance imaging showed multifocal leukomalacia. Chromosomal analysis of the peripheral blood showed the mosaic karyotype with [46,XY,r(4)(p16q35)[84]/45,XY,-4[9]/91,XXYY, dic r(4;4)(p16q35;p16q35)[5]/46,XY,dic r(4;4)(p16q35;p16q35)[2]]. FISH study showed the deletion of the 4p subtelomeric region with the intact 4q subtelomeric and WHS region. Both paternal and maternal karyotypes were normal. We compared the phenotypic variation with the previously reported cases of ring chromosome 4. The ring chromosome 4 with the subtelomeric deletion of short arm seems to be related with the phenotype of short stature.
Subject(s)
Humans , Infant , Male , Chromosome Deletion , Chromosomes, Human, Pair 4 , Growth Disorders/diagnosis , In Situ Hybridization, Fluorescence , Karyotyping , Ring Chromosomes , TelomereABSTRACT
Mycoplasma pneumoniae is a common cause of community-acquired pneumonia in children, with a peak incidence at 5-14 years. Extrapulmonary manifestations occur in 20-25% of patients with M. pneumoniae infection. Most auto-antibodies that cause immune hemolytic anemia in humans are cold agglutinins. The formation of cold agglutinins is frequently observed during M. pneumoniae infections, and cold agglutinin disease usually occurs during M. pneumoniae infections. Nevertheless, severe hemolysis is exceptional. If a patient has any underlying disease related to hemolysis, it is possible to accelerate hemolysis. Hereditary spherocytosis is a common cause of hereditary hemolytic anemia resulting from red blood cell membrane defects. Hemolysis of red cells may result from corpuscular abnormalities or extracorpuscular abnormalities, such as immune or non-immune mechanisms. We report a case of hereditary spherocytosis associated with severe hemolytic anemia due to Mycoplasma pneumonia.
Subject(s)
Child , Humans , Agglutinins , Anemia, Hemolytic , Anemia, Hemolytic, Autoimmune , Anemia, Hemolytic, Congenital , Cold Temperature , Cryoglobulins , Erythrocytes , Hemolysis , Incidence , Membranes , Mycoplasma , Mycoplasma pneumoniae , Pneumonia , Pneumonia, Mycoplasma , Spherocytosis, HereditaryABSTRACT
PURPOSE: Atopic dermatitis (AD) is the allergic disease which appears during infancy. This study aimed to find associations between clinical parameters, allergen sensitization and severity of AD in chidren under 2 years. METHODS: Two hundred fifteen patients (123 boys, 92 girls) under 2 years with severe AD who visited the department of pediatrics of Hangang Sacred Heart Hospital and Asan Medical Center were enrolled. We checked the severity scoring of atopic dermatitis (SCORAD), total eosinophil count, eosinophil ratio, eosionphil cationic protein (ECP), total IgE and specific IgE to 12 allergens [egg white, milk, soybean, peanut, wheat, fish, Dermatophagoides pteronyssinus (D.p), Dermatophagoides farinae (D.f), dog, cat, cockroach, alternaria]. Atopic AD was defined as serum total IgE 200 IU/mL or specific IgE positive. RESULTS: The mean of SCORAD was 69.0. Atopic AD was 161 (75%). There were no differences in age between atopic and non-atopic AD. However, SCORAD, IgE, eosinophil, and ECP were the higher in atopic AD. Sensitization to food allergen was the highest in egg white (76.4%), followed by milk (58.4%) and aeroallergens such as D.f (49.1%) and D.p (46.6%). The more the number of sensitized food allergens, the higher the SCORAD appeared. However, it did not show any relationships with the number of sensitized aeroallergens. CONCLUSION: The percentage and severity were higher in atopic AD than non-atopic AD. The number of sensitized to food allergen affect the severity. Therefore, understanding the sensitization to food allergens may be more helpful in predicting severity than sensitization to aeroallergen. In cases of positive reaction to aeroallergens, it is necessary to observe the development of respiratory allergic disease.