Nemaline myopathy in a newborn infant: a rare muscle disorder.

Nemaline myopathy (NM) is a genetically and clinically heterogeneous muscle disorder, defined by the presence of characteristic nemaline bodies on muscle biopsy. The disease has a wide spectrum of phenotypes, ranging from forms with neonatal onset and fatal outcome to asymptomatic forms. The neonatal form is severe and usually fatal. The clinical variability, with differing age of onset and severity of symptoms makes the diagnosis difficult during infancy. There is no curative treatment. L-tyrosine may prevent aspiration by reducing pharyngeal secretions and drooling. Most of the patients die from respiratory and cardiac failure. This article discusses a newborn infant who presented with generalized weakness and respiratory failure. Partial response to L-tyrosine treatment was noted. The case is worth presenting to remind clinicians of congenital myopathies in the differential diagnosis of floppy infant during neonatal period and to emphasize the importance of muscle biopsy in diagnosis.

Common features of anaphylaxis in children

Objective: We aimed to establish the characteristics of anaphylaxis in childhood. Methods: Forty-four patients who had experienced anaphylaxis in a period of 10 years (from 1999 to 2009), were included in the study. Parameters analysed were age, gender, concomitant allergic disease, trigger, setting, clinical symptoms, treatment, prognosis and prophylaxis. Results: The total numbers of anaphylaxis cases were 44 in a ten-year period. The ages of patients ranged from 3 to 14 years (11.50 ± 3.87 years) and the majority were male. 33 of the patients (75%) had a concomitant allergic disease. The trigger was determined in 93.2% of the cases, being most frequent: food (27.3%), and SIT (25%), followed by bee sting, medications and others. Respiratory (95.5%), dermatological (90.9%), cardiovascular (20.5%), neuropsychiatric (25%), and gastrointestinal (11.4%) symptoms were seen most frequently. For anaphylaxis triggered by food, the duration of anaphylactic episode was significantly longer (p < 0.05). No biphasic reaction was observed during these attacks. Of our patients, only one developed respiratory failure and cardiac arrest due to SIT, and intensive care support was required. Discussion: As a trigger for anaphylaxis, the frequency of SIT is so high that it cannot be described by the study group including patients who were followed up in an outpatient allergy clinic (AU)

Common features of anaphylaxis in children.

OBJECTIVE: We aimed to establish the characteristics of anaphylaxis in childhood. METHODS: Forty-four patients who had experienced anaphylaxis in a period of 10 years (from 1999 to 2009), were included in the study. Parameters analysed were age, gender, concomitant allergic disease, trigger, setting, clinical symptoms, treatment, prognosis and prophylaxis. RESULTS: The total numbers of anaphylaxis cases were 44 in a ten-year period. The ages of patients ranged from 3 to 14 years (11.50 ± 3.87 years) and the majority were male. 33 of the patients (75%) had a concomitant allergic disease. The trigger was determined in 93.2% of the cases, being most frequent: food (27.3%), and SIT (25%), followed by bee sting, medications and others. Respiratory (95.5%), dermatological (90.9%), cardiovascular (20.5%), neuropsychiatric (25%), and gastrointestinal (11.4%) symptoms were seen most frequently. For anaphylaxis triggered by food, the duration of anaphylactic episode was significantly longer (p<0.05). No biphasic reaction was observed during these attacks. Of our patients, only one developed respiratory failure and cardiac arrest due to SIT, and intensive care support was required. DISCUSSION: As a trigger for anaphylaxis, the frequency of SIT is so high that it cannot be described by the study group including patients who were followed up in an outpatient allergy clinic.

Homozygosity for a novel mutation in the C1q C chain gene in a Turkish family with hereditary C1q deficiency.

Hereditary complete deficiency of complement component C1q is associated with a high prevalence of systemic lupus erythematosus and increased susceptibility to severe recurrent infections. An 11-year-old girl was screened for immunodeficiency due to a history of recurrent meningitis and pneumonia. Immunologic studies revealed absence of classic pathway hemolytic activity and undetectable levels of Clq. Exon-specific amplification of genomic DNA by polymerase chain reaction followed by direct sequence analysis revealed a novel homozygous missense mutation at codon 48 in the C1q C gene causing a glycine-to-arginine substitution affecting the collagen-like region of C1q. No changes were seen in the exons of the A and B chains. The mutation affected both the formation and the secretion of C1q variant molecules. We describe a novel mutation in the C1q C chain gene that leads to an interchange in amino acids resulting in absence of C1q in serum.

IgA and/or IgG subclass deficiency in children with recurrent respiratory infections and its relationship with chronic pulmonary damage.

Most patients with IgA and/or IgG subclass deficiency are asymptomatic but some may suffer from frequent mainly respiratory infections. The aim of our study was to determine the frequency of IgA and/or IgG subclass deficiencies and the rate of chronic pulmonary damage secondary to recurrent pulmonary infections in these children. Serum IgA and IgG subclass levels were measured in 225 children aged 6 months to 6 years with recurrent sinopulmonary infections (44 with recurrent upper respiratory tract infections, 100 with recurrent pulmonary infections and 81 with recurrent bronchiolitis). In order to determine chronic pulmonary damage due to recurrent infections in patients with recurrent pulmonary infections CT scans of thorax were also obtained. The overall frequency of antibody defects was found to be 19.1%. IgA deficiency was observed in 9.3%, IgG subclass deficiency in 8.4% and IgA + IgG subclass deficiency in 1.4%. The prevalance of IgA and/or IgG subclass deficiency was 25% in patients with recurrent upper respiratory tract infections, 22% in patients with recurrent pulmonary infections and 12.3% in patients with recurrent bronchiolitis (p>0.05). Chronic pulmonary damage in lungs was determined radiologically in 17 of 100 cases with recurrent pulmonary infection. In IgG subclass deficiencies sequel changes, although not statistically significant, were observed five times more frequently than that of IgA deficiencies. CT scans revealed pulmonary sequels in 5 of the 22 (22.7%) patients with recurrent pulmonary infections and immunodeficiency (bronchiectasis in 2 patients with IgG3 deficiency, fibrotic changes in one with IgA deficiency and in one with IgG3 deficiency, bronchiolitis obliterans in one with IgG2 + IgG3 deficiency). On the other hand, pulmonary sequels were observed in 12 patients (15.4%) with normal immunoglobulin levels. Eight of them were bronchiolitis obliterans, 2 of them were atelectasia and 1 of them was bronchiectasia. We therefore suggest that determination of antibody levels and evaluation of pulmonary alterations is crucial in patients with recurrent sinopulmonary infections since the deficiency of antibodies is associated with a greater pulmonary damage.

Arthritis in a patient with homozygous familial hypercholesterolemia.

Familial hypercholesterolemia is a disorder of lipoprotein metabolism characterized by elevated cholesterol, low-density lipoprotein cholesterol, xanthomas and early onset atherosclerosis. Tendinitis and arthritis have been reported in patients with familial hypercholesterolemia. A report is presented of a 9-year-old girl with an acute arthritic attack who was diagnosed as homozygote familial hypercholesterolemia with hypercholesterolemic arthritis.

Protein C and antithrombin III in children with acute leukemia.

In this study Protein C (PC) and antithrombin III (AT III) levels in childhood acute leukemia were investigated. The mean PC activity levels in 19 newly diagnosed cases of acute leukemia were significantly lower as compared with the normal controls (p < 0.05). A significant increase was found (p < 0.01) in the patients in remission. Prior to treatment 78.8 percent of patients had decreased PC activity levels, but all patients had normal PC activity during remission. Decreased PC activity levels were found to be independent of the leukocyte count and liver function. No statistically significant difference was found in the AT III antigen levels between the untreated patients, the patients in remission and the control group. Our results indicate that apart from thrombocytopenia, low PC activity levels and alterations in fibrinolysis and coagulation may be responsible for the hemorrhagic manifestations observed in cases of acute leukemia.

Serum fructosamine and lipid profile in children with malignant diseases.

Serum levels of total cholesterol (TC), triglycerides (TG), high density lipoprotein cholesterol (HDL-C), low density lipoprotein cholesterol (LDL-C) and fructosamine (FA) were determined in thirty-three children with malignant diseases and twenty healthy controls aged 1-14 years. Of them, FA was the parameter measured in children with malignancy for the first time. Mean serum TC, HDL-C, LDL-C and FA showed statistically significant decreases in malignancy compared to healthy children, whereas a statistically significant increase was observed for TG concentrations in serum. From these data, we conclude that significant relations between serum lipids and lipoproteins and the state of malignancy exist in the children studied, and it should be remembered that serum FA concentrations are affected by abnormal serum protein turnover when one deals with any type of neoplastic disease.

Serum fructosamine and lipid profile in type I diabetic children in Turkey.

Serum levels of total cholesterol (TC), triglycerides (TG), lipoprotein cholesterol fractions (HDL-C and LDL-C) and fructosamine (FA) were determined in twenty-three children with Type I diabetes and twenty healthy children aged 4-14 years. Mean serum TC and HDL-C did not differ significantly between diabetic and nondiabetic children. Mean serum TG and FA showed a statistically significant increase in the diabetic group compared to healthy children. It is interesting to note that extremely high FA values had never been reported in the literature before were obtained for the Turkish diabetic children. Although we have observed relatively higher values for LDL-C/HLD-C ratio in diabetics, the difference between two groups was not statistically significant.

Zinc and copper in congestive heart failure.

In this study serum zinc (Zn) and copper (Cu) levels in children with congestive heart failure (CHF) were evaluated. The mean serum Zn levels of the patients with CHF were 92.9 +/- 18.9 micrograms/100 ml, and they showed a significant decrease when compared to controls (p less than 0.05). The mean serum Cu levels, which were 173.6 +/- 26.6 micrograms/100 ml, showed a significant increase when compared to controls (p less than 0.001). After digoxin therapy, a significant increase in Zn levels and a significant decrease in Cu levels were observed.