Recent trends place an emphasis on school health care, the ultimate goal of which is to protect, maintain, and promote students' health. School health care is a program that integrates health care services, health education, health counseling, and local social health services. The student health examination (SHE) system is a part of school health care and schools and communities must be available to provide professional health services. Pediatricians also have important roles as experts in both school health care and the SHE system. In this article, the history of school health care, its legal basis, and the current status of the SHE system in Korea are reviewed. Furthermore, sample surveys from the past few years are reviewed. Through this holistic approach, future directions are proposed for the improvement of SHE and school health care.
School health care; School health examination; Student health examination
Quality of life in addition to various medical problems in children with end-stage renal disease (ESRD) should be objectively assessed to accomplish normal growth and development during childhood. However, unfortunately, studies of quality of life (QoL) in children with ESRD have been not popular yet and there are only fewer suitable assessment tools compared with adults. Recently, disease-specific modules to evaluate QoL in children with chronic disease such as ESRD have been developed. This review was made to introduce these QoL instruments for children and help the clinical application of them.
Quality of life; Child; End-stage renal disease
The ketogenic diet (KD) is an established, effective, nonpharmacologic treatment for children with pharmacoresistant epilepsy. Although the KD is the most well-established dietary therapy for epilepsy, it is too restrictive and is associated with serious complications; therefore, alternative lower-fat diets, including a modified Atkins diet and low-glycemic index diet, have been developed. Recent ongoing clinical evidence suggests that other dietary therapies have an efficacy almost comparable to that of the KD. In addition, a diet rich in polyunsaturated fatty acids appears to increase the efficacy of diet therapy and reduce the complications of a high-fat diet. Here, we review the systematic information about lower-fat diets and better-quality dietary therapies and the current clinical status of each of these dietary approaches.
Ketogenic diet; Atkins diet; Low-glycemic index diet; Polyunsaturated fatty acid; Epilepsy
To identify the frequency of bacterial isolates in early-onset neonatal sepsis (EONS) and their antimicrobial resistance pattern.
A retrospective study of EONS was conducted at the Beni Suef University Hospital from September 2008 to September 2012. A case of EONS was defined as an infant who had clinical signs of infection or who was born to a mother with risk factors for infection, and in whom blood culture obtained within 72 hours of life grew a bacterial pathogen.
Of 673 neonates screened, there were 138 positive blood cultures (20.5%) (confirmed EONS). Of the recovered isolates, 86.2% were gram-negative pathogens. Klebsiella pneumoniae (42.8%), Enterobacter cloacae (22.5%), and Escherichia coli (13.8%) were the commonest isolated organisms. The most common gram-positive microorganism was Staphylococcus aureus accounting for only 12 isolates (8.7%). All Klebsiella isolates and 93% of Enterobacter isolates were resistant to ampicillin. Gram-negative pathogens had the maximum overall sensitivity to imipenem, cefepime, and ciprofloxacin; whereas, gram-positive isolates were most susceptible to vancomycin, imipenem, and piperacillin.
K. pneumoniae was the predominant causative bacteria of EONS followed by E. cloacae and E. coli. There was a high resistance to ampicillin. Imipenem had the maximum overall activity against the causative bacteria. Continuous surveillance is needed to monitor the changing epidemiology of pathogens and antibiotic sensitivity.
Drug Resistance; Newborn; Sepsis
Allergic disease and its comorbidities significantly influence the quality of life. Although the comorbidities of allergic diseases are well described in adult populations, little is known about them in preschool children. In the present study, we aimed to assess the prevalence and comorbidity of allergic diseases in Korean preschool children.
We conducted a cross-sectional study comprising 615 Korean children (age, 3 to 6 years). Symptoms of allergic diseases were assessed using the Korean version of the International Study of Asthma and Allergies in Childhood (ISAAC) questionnaire that was modified for preschool children. Comorbidities of allergic diseases were assessed by 'In the last 12 months, has your child had symptoms?'.
The prevalence of symptoms of asthma, allergic rhinitis, and atopic dermatitis as recorded using the ISAAC questionnaire, within the last 12 months was 13.8%, 40.7%, and 20.8%, respectively. The symptom rates of allergic conjunctivitis, food allergy, and drug allergy were 14.8%, 10.4%, and 0.8%, respectively. The prevalence of allergic rhinitis in children with asthma was 64.3% and that of asthma in children with allergic rhinitis was 21.6%. The prevalence of rhinitis in children with conjunctivitis was 64.8% and that of conjunctivitis in children with rhinitis was 23.6%.
The prevalence of current rhinitis in our preschool children is shown to be higher than that previously reported. Allergic conjunctivitis is closely associated with asthma and allergic rhinitis. However, further studies are warranted to determine the prevalence and effects of these comorbidities on health outcomes in preschool children.
Asthma; Allergic rhinitis; Preschool child; Prevalence; Comorbidity
Despite the established role of imatinib (IM) in chronic myelogenous leukemia (CML) in adults, there are few reports on its efficacy in children. In this study, we compared the outcomes of children with CML before and after the advent of IM-based treatment.
The study cohort consisted of 52 patients treated for CML at the Department of Pediatrics, The Catholic University of Korea from January 1995 to October 2010. Patients were divided and analyzed according to the preImatinib group (pre-IMG) and imatinib group (IMG).
Median age at diagnosis for the overall cohort (pre-IMG, n=27; IMG, n=25) was 9 years, with a median follow-up duration of survivors of 84 months. Except for 5 patients in the IMG, all were diagnosed in chronic phase (CP). The overall survival (OS) of patients diagnosed in CP was 45.7% and 89.7% for pre-IMG and IMG, respectively (P=0.025). The OS of hematopoietic stem cell transplantation (HSCT) recipients in the 2 groups was similar, but the OS of patients diagnosed in CP who did not receive HSCT was superior in IMG (91.7% vs. 16.7%, P=0.014). Of the 12 patients in IMG who remained on IM without HSCT, 2 showed disease progression, compared to 11 of 12 in pre-IMG. No difference was observed in the progression free survival (PFS) of matched donor HSCT recipients and IM-based treatment recipients.
Similar PFS of patients treated with IM and those who received matched donor HSCT underscore the potential of IM as effective first-line treatment in childhood CML.
Chronic myelogenous leukemia; Imatinib mesylate; Allogeneic transplantation; Children
Isovaleric aciduria (IVA) is caused by an autosomal recessive deficiency of isovaleryl-CoA dehydrogenase (IVD). IVA presents either in the neonatal period as an acute episode of fulminant metabolic acidosis, which may lead to coma or death, or later as a "chronic intermittent form" that is associated with developmental delays, with or without recurrent acidotic episodes during periods of stress, such as infections. Here, we report the case of a 2-year old boy with IVA who presented with the chronic intermittent form. He was admitted to Asan Medical Center Children's Hospital with recurrent vomiting. Metabolic acidosis, hyperammonemia, elevated serum lactate and isovalerylcarnitine levels, and markedly increased urine isovalerylglycine concentration were noted. Sequence analysis of the IVD gene in the patient revealed the novel compound mutations-a missense mutation, c.986T>C (p.Met329Thr) and a frameshift mutation, c.1083del (p.Ile361fs*11). Following stabilization during the acute phase, the patient has remained in a stable condition on a low-leucine diet.
Isovaleric acidemia; Genetic testing; Clinical symptom
Kabuki syndrome (KS) is a rare genetic disease with a distinctive dysmorphic face, intellectual disability, and multiple congenital abnormalities. KS is inherited in an autosomal dominant manner. As the primary cause of KS, MLL2 mutations have been identified in 56-76% of affected individuals who have been tested, suggesting that there may be additional genes associated with KS. Recently, a few KS individuals have been found to have de novo partial or complete deletions of an X chromosome gene, KDM6A, which encodes a histone demethylase that interacts with MLL2. Nevertheless, mutations in MLL2 are the major cause of KS. Although there are a few reports of KS patients in Korea, none of these had been confirmed by genetic analysis. Here, we report a case of a Korean patient with clinical features of KS. Using direct sequencing, we identified a frameshift heterozygous mutation for MLL2: (c.5256_5257delGA;p.Lys1753Alafs*34). Clinically, the patient presented with typical facial features, and diagnosis of KS was based on the diagnostic criteria. While KS is a rare disease, other malformations that overlap with those found in individuals with KS are common. Hence, the diagnosis of KS by mutational analysis can be a valuable method for patients with KS-like syndromes. Furthermore, in the near future, other genes could be identified in patients with KS without a detectable MLL2 mutation.
Kabuki syndrome; MLL2 mutation; KDM6; KS-associated genes
Brain insults, including neurotrauma, infection, and perinatal injuries such as hypoxic ischemic encephalopathy, generate inflammation in the brain. These inflammatory cascades induce a wide spectrum of cytokines, which can cause neuron degeneration, have neurotoxic effects on brain tissue, and lead to the development of seizures, even if they are subclinical and occur at birth. Cytokines are secreted by the glial cells of the central nervous system and they function as immune system mediators. Cytokines can be proinflammatory or anti-inflammatory. Interleukin (IL)-1β and IL-8 are proinflammatory cytokines that activate additional cytokine cascades and increase seizure susceptibility and organ damage, whereas IL-1 receptor antagonist and IL-10 act as anti-inflammatory cytokines that have protective and anticonvulsant effects. Therefore, the immune system and its associated inflammatory reactions appear to play an important role in brain damage. Whether cytokine release is relevant for the processes of epileptogenesis and antiepileptogenesis, and whether epileptogenesis could be prevented by immunomodulatory treatment should be addressed in future clinical studies. Furthermore, early detection of brain damage and early intervention are essential for the prevention of disease progression and further neurological complications. Therefore, cytokines might be useful as biomarkers for earlier detection of brain damage in high-risk infants.
Cytokines; Seizures; Immune system; Biological biomarker
Temporal lobe epilepsy (TLE) is the most common type of medically intractable epilepsy in adults and children, and mesial temporal sclerosis is the most common underlying cause of TLE. Unlike in the case of adults, TLE in infants and young children often has etiologies other than mesial temporal sclerosis, such as tumors, cortical dysplasia, trauma, and vascular malformations. Differences in seizure semiology have also been reported. Motor manifestations are prominent in infants and young children, but they become less obvious with increasing age. Further, automatisms tend to become increasingly complex with age. However, in childhood and especially in adolescence, the clinical manifestations are similar to those of the adult population. Selective amygdalohippocampectomy can lead to excellent postoperative seizure outcome in adults, but favorable results have been seen in children as well. Anterior temporal lobectomy may prove to be a more successful surgery than amygdalohippocampectomy in children with intractable TLE. The presence of a focal brain lesion on magnetic resonance imaging is one of the most reliable independent predictors of a good postoperative seizure outcome. Seizure-free status is the most important predictor of improved psychosocial outcome with advanced quality of life and a lower proportion of disability among adults and children. Since the brain is more plastic during infancy and early childhood, recovery is promoted. In contrast, long epilepsy duration is an important risk factor for surgically refractory seizures. Therefore, patients with medically intractable TLE should undergo surgery as early as possible.
Temporal lobe epilepsy; Child; Adult; Temporal lobectomy
Recent studies have established the association between hypotonic fluids administration and hospital-acquired hyponatremia in children. The present paper investigated the pattern of current practice in intravenous fluid prescription among Korean pediatric residents, to underscore the need for updated education.
A survey-based analysis was carried out. Pediatric residents at six university hospitals in Korea completed a survey consisting of four questions. Each question proposed a unique scenario in which the respondents had to prescribe either a hypotonic or an isotonic fluid for the patient.
Ninety-one responses were collected and analyzed. In three of the four scenarios, a significant majority prescribed the hypotonic fluids (98.9%, 85.7%, and 69.2%, respectively). Notably, 69.2% of the respondents selected the hypotonic fluids for postoperative management. Almost all (96.7%) selected the isotonic fluids for hydration therapy.
In the given scenarios, the majority of Korean pediatric residents would prescribe a hypotonic fluid, except for initial hydration. The current state of pediatric fluid management, notably, heightens the risk of hospital-acquired hyponatremia. Updated clinical practice education on intravenous fluid prescription, therefore, is urgently required.
Pediatrics; Intravenous; Infusions; Fluid therapy; Hyponatremia; Maintenance
Although chronic and recurrent rhinosinusitis is prevalent in children, little is known about its causes. Here, we investigated the humoral immunity in children with chronic or recurrent rhinosinusitis.
We examined 16 children attending the outpatient clinic at the CHA Bundang Medical Center including 11 boys and 5 girls, aged 3.11 years (mean age, 5.6 years), who had rhinosinusitis for >3 months or >3 times per year. The complete blood count with differential and total serum concentrations of Immunoglobulin (Ig) E, IgA, IgD, IgM, IgG, and IgG subclasses (IgG1, IgG2, IgG3, and IgG4) of all children were measured. All subjects received 23-polysaccharide pneumococcal vaccination (PPV), and the levels of antibodies to 5 serologic types (4, 6B, 14, 18C, and 23F) of pneumococcal capsular polysaccharide antigens were measured before and after vaccination. Post-PPV antibody titers ≥0.35 µg/mL or with a ≥4-fold increase were considered as positive responses.
The titers of IgG, IgA, IgD, and IgM were within normal range in all 16 children, whereas the total IgE concentration was higher than normal in 2 children. IgG1 deficiency was observed in 1 patient and IgG3 deficiency in 3. After PPV, 1 patient failed to respond to all 5 serologic types, 2 failed to respond to 4 serologic types, and 2 failed to respond to 3 serologic types.
Clinicians should consider the evaluation of humoral immune functions in children with chronic or recurrent rhinosinusitis who do not respond to prolonged antibiotic treatment.
Rhinosinusitis; Humoral immune deficiency; Polysaccharide pneumococcal vaccines
The aim of this study was to investigate prophylactic treatment effects in Korean patients with severe hemophilia A.
A prospective study of 32 severe hemophilia A patients was conducted with the approval of the Institutional Review Board at the Eulji University Hospital. Two patients received primary prophylaxis; whereas, the other 30 patients were divided into 2 groups-secondary prophylaxis (n=15) and on-demand (n=15)-on the basis of their consent for secondary prophylaxis. A 20-25 IU/kg dose of factor VIII concentrate was administered to the primary and secondary prophylaxis group patients every 3 days for 1 year. The prophylactic effect was evaluated by observing changes in the Pettersson scores, annual number of total and joint bleeds, and factor VIII consumption for 1 year.
No moderate or severe bleeding was observed, and the Pettersson scores remained unchanged during the prophylaxis period in the patients who received primary prophylactic treatment. After the treatment was changed from on-demand to secondary prophylaxis, the annual number of total and joint bleeds in the secondary prophylaxis group decreased by 64.4%±13.0% and 70.0%±15.2%, respectively. The average increase in Pettersson scores within 1 year was 0.5±0.8 and 1.3±1.1 in the secondary prophylaxis and on-demand groups, respectively. Prophylactic effects were also observed in patients >17 years who had nearly the same initial Pettersson scores.
Intermediate-dose prophylactic treatment may delay hemarthropathy progression and prevent its occurrence in Korean severe hemophilia A patients.
Hemophilia A; Factor VIII; Prophylaxis
The purpose of this study was to evaluate short-term thyroid dysfunction and related risk factors in pediatric patients who underwent hematopoietic stem cell transplantation (HSCT) during childhood.
We studied 166 patients (100 boys and 66 girls) who underwent HSCT at the Catholic HSCT Center from January 2004 through December 2009. The mean age at HSCT was 10.0±4.8 years. Thyroid function of the patients was tested before and during 3 months of HSCT.
Out of 166 patients, 165 (99.4%) underwent allotransplantation. Acute graft-versus-host disease (GVHD, grades II to IV) developed in 76 patients. Conditioning regimens before HSCT include total body irradiation (n=57), busulfan (n=80), and reduced intensity (n=29). Forty-five (27.1%) had thyroid dysfunction during 3 months after HSCT (29 euthyroid sick syndrome [ESS], 6 subclinical hyperthyroidism, 4 subclinical hypothyroidism, 3 hypothyroxinemia, 2 overt hyperthyroidism, and 1 high T4 syndrome). In a univariate logistic regression analysis, age at HSCT (P=0.002) and acute GVHD (P=0.009) had statistically significant relationships with thyroid dysfunction during 3 months after HSCT. Also, in a univariate logistic regression analysis, ESS (P=0.014) showed a strong statistically significant association with mortality.
In our study 27.1% patients experienced thyroid dysfunction during 3 months after HSCT. Increase in age and acute GVHD may be risk factors for thyroid dysfunction during 3 months after HSCT. There was a significant association between ESS and mortality.
Hematopoietic stem cell transplantation; Thyroid dysfunction; Child; Graft-vs-host disease; Euthyroid sick syndrome
Polyclonal gammopathy represents the diffuse activation of B cells and is usually related to inflammation or immune-related diseases. However, the mechanisms leading to polyclonal gammopathy are essentially speculative. Generally, infectious, inflammatory, or various other reactive processes may be indicated by the presence of a broad-based peak or band in the gamma region on serum protein electrophoresis results. A 15-year-old girl, who had been receiving peritoneal dialysis, presented with polyclonal gammopathy and massive gross hematuria. Renal artery embolization was performed, after which the continuous bleeding subsided and albumin-globulin dissociation resolved. This is a rare case of polyclonal gammopathy related to renal bleeding.
Child; Polyclonal gammopathy; Renal bleeding
In this report, we present a pediatric case of severe symptomatic hypermagnesemia resulting from the use of magnesium oxide as a laxative in a child undergoing continuous cyclic peritoneal dialysis for end-stage renal disease. The patient showed abnormal electrocardiography (ECG) findings, such as tall T waves, a widened QRS complex, and irregular conduction, which were initially misdiagnosed as hyperkalemia; later, the correct diagnosis of hypermagnesemia was obtained. Emergent hemodialysis successfully returned the serum magnesium concentration to normal without complications. When abnormal ECG changes are detected in patients with renal failure, hypermagnesemia should be considered.
Magnesium; Peritoneal dialysis; Hyperkalemia
This article contains the recommended immunization schedule by the Committee on Infectious Diseases of the Korean Pediatric Society, updated in March 2013, when Haemophilus influenzae type b vaccine is now included in the National Immunization Program in Korea. It also includes catch-up immunization schedule for children and adolescents who are behind the recommended schedule. These schedules are a minor revision of the corresponding parts of Immunization Guideline, 7th edition, of the Korean Pediatric Society, released in 2012. Pediatricians should be aware of these schedules to provide adequate immunization to Korean children and adolescents.
Immunization Schedule; Infant; Child; Adolescent
Repair of tetralogy of Fallot (TOF) has shown excellent outcomes. However it leaves varying degrees of residual hemodynamic impairment, with severe pulmonary stenosis (PS) and free pulmonary regurgitation (PR) at both ends of the spectrum. Since the 1980s, studies evaluating late outcomes after TOF repair revealed the adverse impacts of residual chronic PR on RV volume and function; thus, a turnaround of operational strategies has occurred from aggressive RV outflow tract (RVOT) reconstruction for complete relief of RVOT obstruction to conservative RVOT reconstruction for limiting PR. This transformation has raised the question of how much residual PS after conservative RVOT reconstruction is acceptable. Besides, as pulmonary valve replacement (PVR) increases in patients with RV deterioration from residual PR, there is concern regarding when it should be performed. Regarding residual PS, several studies revealed that PS in addition to PR was associated with less PR and a small RV volume. This suggests that PS combined with PR makes RV diastolic property to protect against dilatation through RV hypertrophy and supports conservative RVOT enlargement despite residual PS. Also, several studies have revealed the pre-PVR threshold of RV parameters for the normalization of RV volume and function after PVR, and based on these results, the indications for PVR have been revised. Although there is no established strategy, better understanding of RV mechanics, development of new surgical and interventional techniques, and evidence for the effect of PVR on RV reverse remodeling and its late outcome will aid us to optimize the management of TOF.
Pulmonary stenosis; Pulmonary regurgitation; Tetralogy of Fallot; Heart failure
The cardiopulmonary exercise test (CPET) is an important clinical tool for evaluating exercise capacity and is frequently used to evaluate chronic conditions including congenital heart disease. However, data on the normal CPET values for Korean children and adolescents are lacking. The aim of this study was to provide reference data for CPET variables in children and adolescents.
From August 2006 to April 2009, 76 healthy children and adolescents underwent the CPET performed using the modified Bruce protocol. Here, we performed a medical record review to obtain data regarding patient' demographics, medical history, and clinical status.
The peak oxygen uptake (VO2Peak) and metabolic equivalent (METMax) were higher in boys than girls. The respiratory minute volume (VE)/CO2 production (VCO2) slope did not significantly differ between boys and girls. The cardiopulmonary exercise test data did not significantly differ between the boys and girls in younger age group (age, 10 to 14 years). However, in older age group (age, 15 to 19 years), the boys had higher VO2Peak and METMax values and lower VE/VCO2 values than the girls.
This study provides reference data for CPET variables in case of children and adolescents and will make it easier to use the CPET for clinical decision-making.
Exercise test; Oxygen uptake; Adolescents
In children with acute leukemia, bone marrow genetic abnormalities (GA) have prognostic significance, and may be the basis for minimal residual disease monitoring. Since April 2007, we have used a multiplex reverse transcriptase-polymerase chain reaction tool (HemaVision) to detect of GA.
In this study, we reviewed the results of HemaVision screening in 270 children with acute leukemia, newly diagnosed at The Catholic University of Korea from April 2007 to December 2011, and compared the results with those of fluorescence in situ hybridization (FISH), and G-band karyotyping.
Among the 270 children (153 males, 117 females), 187 acute lymphoblastic leukemia and 74 acute myeloid leukemia patients were identified. Overall, GA was detected in 230 patients (85.2%). HemaVision, FISH, and G-band karyotyping identified GA in 125 (46.3%), 126 (46.7%), and 215 patients (79.6%), respectively. TEL-AML1 (20.9%, 39/187) and AML1-ETO (27%, 20/74) were the most common GA in ALL and AML, respectively. Overall sensitivity of HemaVision was 98.4%, with false-negative results in 2 instances: 1 each for TEL-AML1 and MLL-AF4. An aggregate of diseasesspecific FISH showed 100% sensitivity in detection of GA covered by HemaVision for actual probes utilized. G-band karyotype revealed GA other than those covered by HemaVison screening in 133 patients (49.3%). Except for hyperdiplody and hypodiploidy, recurrent GA as defined by the World Health Organizationthat were not screened by HemaVision, were absent in the karyotype.
HemaVision, supported by an aggregate of FISH tests for important translocations, may allow for accurate diagnosis of GA in Korean children with acute leukemia.
HemaVision; Acute leukemia; Child; Fluorescence in situ hybridization; Karyotype
Retinoblastoma (RB) is the most common primary malignant intraocular tumor in children. Although systemic chemotherapy has been the primary treatment, intra-arterial chemotherapy (IAC) represents a new treatment option. Here, we performed alternate systemic chemotherapy and IAC and retrospectively reviewed the efficacy and safety of this approach.
Patients diagnosed with intraocular RB between January 2000 and December 2011 at Severance Children's Hospital, Yonsei University, were reviewed. Before February 2010, the primary treatment for RB was chemotherapy (non-IAC/CTX). Since February 2010, the primary treatment for RB has been IAC (IAC/CTX). External beam radiotherapy or high-dose chemotherapy were used as "last resort" treatments just prior to enucleation at the time of progression or recurrence during primary treatment. Enucleation-free survival (EFS) and progression-free survival were assessed.
We examined 19 patients (median age, 11.9 months; range, 1.4 to 75.6 months) with a sum of 25 eyes, of which, 60.0% were at advanced Reese Ellsworth (RE) stages. The enucleation rate was 33.3% at early RE stages and 81.8% at advanced RE stages (P=0.028). At 36 months, EFS was significantly higher in the IAC/CTX group than in the non-IAC/CTX group (100% vs. 40.0%, P=0.016). All 5 patients treated with IAC achieved eye preservation, although most patients were at advanced RE stages (IV-V).
Despite the limitation of a small sample size, our work shows that an alternative combined approach using IAC and CTX may be safe and effective for eye preservation in advanced RB.
Retinoblastoma; Combination chemotherapy; Intra-arterial infusion; Eye enucleation
Dapsone (4,4'-diaminodiphenylsulfone, DDS), a potent anti-inflammatory agent, is widely used in the treatment of leprosy and several chronic inflammatory skin diseases. Dapsone therapy rarely results in development of dapsone hypersensitivity syndrome, which is characterized by fever, hepatitis, generalized exfoliative dermatitis, and lymphadenopathy. Here, we describe the case of an 11-year-old Korean boy who initially presented with high fever, a morbilliform skin rash, generalized lymphadenopathy, hepatosplenomegaly, and leukopenia after 6 weeks of dapsone intake. Subsequently, he exhibited cholecystitis, gingivitis, colitis, sepsis, aseptic meningitis, disseminated intravascular coagulation, syndrome of inappropriate antidiuretic hormone secretion, pneumonia, pleural effusions, peritonitis, bronchiectatic changes, exfoliative dermatitis, and acute renal failure. After 2 months of supportive therapy, and prednisolone and antibiotic administration, most of the systemic symptoms resolved, with the exception of exfoliative dermatitis and erythema, which ameliorated over the following 4 months. Agranulocytosis, atypical lymphocytosis, aseptic meningitis, and bronchiectatic changes along with prolonged systemic symptoms with exfoliative dermatitis were the most peculiar features of the present case.
Aseptic meningitis; Bronchiectasis; Dapsone; Multiple organ failure
Wiskott-Aldrich syndrome (WAS) is an inherited X-linked disorder. The WAS gene is located on the X chromosome and undergoes mutations, which affect various domains of the WAS protein, resulting in recurrent infection, eczema, and thrombocytopenia. However, the clinical features and severity of the disease vary according to the type of mutations in the WAS gene. Here, we describe the case of a 4-year-old boy with a history of marked thrombocytopenia since birth, who presented with recurrent herpes simplex infection and late onset of eczema. Examination of his family history revealed that older brother, who died from intracranial hemorrhage, had chronic idiopathic thrombocytopenia. Therefore, we proceeded with genetic analysis and found a new deletion mutation in the WAS gene: c.858delC (p.ser287Leufs*21) as a hemizygous form.
Wiskott-Aldrich syndrome; Mutation; Sequence deletion
Severe childhood asthma is a complicated and heterogeneous disorder with distinct phenotypes. Children with severe asthma have more persistent symptoms despite receiving treatment, more atopy, greater airway obstruction, and more air trapping than those with mild-to-moderate asthma. They also have higher morbidity and substantial airflow limitations that persist throughout adulthood. Identification of the phenotype clusters and endotypes of severe asthma can allow further modulation of the natural history of severe asthma and may provide the pathophysiologic rationale for appropriate management strategies.
Severe asthma; Child; Phenotype; Endotype