Chengdu, China

Author Affiliations: Department of Endocrinology, West China Hospital of Sichuan University, Chengdu 610000, China (Zhao LQ, Han S, Tian HM)

Corresponding Author: Su Han, 4-12, Xiaojiahe Dongsanxiang No.4, Gaoxin District, Chengdu, Sichuan 610000, China (Tel: 86-13880227998; Fax: 86-28-87062118; Email: zplhelen@126.com)

Background: 11β-hydroxylase deficiency is one of the main causes of congenital adrenal hyperplasia (CAH). It is caused by the mutation of the CYP11B1 gene that encodes the enzyme. Researches have shown that mutations of the CYP11B1 gene would result in activity decrease or inactivation of the enzyme in classical 11β-hydroxylase deficiency.

Data sources: Articles on CAH and CYP11B1 gene  mutation were retrieved from PubMed and MEDLINE published after 1991.

Results: The prevalence, pathophysiology, and molecular-genetic mechanisms were summarized.

Conclusions: The disease is caused by genetic mutations of CYP11B1, and types of the mutations are varied. In classical 11β-hydroxylase deficiency, genetic mutations of CYP11B1 lead to activity decrease or loss; mutations in unclassical 11β-hydroxylase deficiency are not definite. And the relationship between genotype and phenotype is not established.

                                      World J Pediatr 2008;4(2):85-90

Key words: adrenal hyperplasia; 11β-hydroxylase; molecular genetics

Author Affiliations: Department of Neonatology, South Medical University Affiliated Maternal & Child Healthcare Hospital of Shenzhen, Shenzhen 518028, China (Yang CZ); Department of Neonatology, National University Hospital, Yong Loo Lin School of Medicine, National University of Singapore, Republic of Singapore (Lee J)

Corresponding Author: Chuan-Zhong Yang, Department of Neonatology, South Medical University Affiliated Maternal & Child Healthcare Hospital of Shenzhen, Shenzhen 518028, China (Tel: 86-755-83360733; Fax: 86-755-83230651; Email: yangczgd@163.com)

Background: The incidence of patent ductus arteriosus (PDA) is high in extremely low birth weight (ELBW) infants. Indomethacin has been widely used in the prophylaxis and treatment of hemodynamically significant PDA. This retrospective study was undertaken to identify factors such as birth weight, gestational age, gender, fetal growth retardation, ductal size, timing of the first dose of indomethacin and side effects of indomethacin, which may affect the successful closure of the PDA with indomethacin in ELBW infants.

Methods: A cohort of 139 ELBW infants who had received indomethacin treatment for PDA during a consecutive period of more than three years (September 2000 to December 2003) was retrospectively analyzed.

Results: Administration of indomethacin was associated with closure of PDA in 108 (77.7%) of 139 ELBW infants, and only 19.4% of infants required surgical ligation of the ductus eventually. There was no significant relationship between closure of PDA with gestational age, gender, fetal growth retardation, and ductal size. A higher birth weight and early use of indomethacin after birth could significantly increase the closure rate of PDA (P<0.05). Side effects of indomethacin such as transient oliguria and hyponatremia during indomethacin therapy did not affect PDA closure.

Conclusions: Indomethacin is effective for the treatment of PDA in ELBW infants. A higher rate of ductal closure is related to the increase of birth weight. PDA closure with indomethacin is age-related, and early administration of indomethacin could increase PDA closure and reduce the incidence of hyponatremia. There is no significant difference in major morbidities such as bronchopulmonary dysplasia (BPD), intraventricular hemorrhage (IVH), necrotizing enterocolitis (NEC), and retinopathy of prematurity (ROP) after early treatment. Early screening for hemodynamically significant PDA in ELBW infants and early treatment with indomethacin are recommended.

World J Pediatr 2008;4(2):91-96

Key words: extremely low birth weight; indomethacin; patent ductus arteriosus; premature infants

Author Affiliations: Department of Allergy, Immunology and Rheumatology, Guangzhou Children's Hospital, Guangzhou 510120, China (Zeng HS, Xiong XY, Wei YD); Pediatric Department, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China (Wang HW, Luo XP)

Corresponding Author: Hua-Song Zeng, Department of Allergy, Immunology and Rheumatology, Guangzhou Children's Hospital, Guangzhou 510120, China (huasongz@gmail.com)

Background: Macrophage activation syndrome (MAS) is a severe, potentially life-threatening condition induced by chronic rheumatic diseases, especially systemic-onset juvenile idiopathic arthritis (SoJIA) in childhood. This study aimed to analyze the clinical and laboratory characteristics of systemic-onset juvenile idiopathic arthritis (SoJIA) with macrophage activation syndrome (MAS) in 13 patients.

Methods: Clinical and laboratory data of 13 SoJIA patients with MAS treated in our hospital from January 2003 to October 2007 were analyzed.

Results: In the 13 patients, 9 were boys and 4 girls aged from 5 months to 12 years. Clinical manifestations were of no typical characteristics including persistent fever, anemia, arthritis, hepatosplenomegaly, lymph-adenopathy, dysfunction of the liver, abnormal fat metabolism, and hemophagocytic cells in the bone marrow. Two patients experienced acute respiratory distress syndrome, two had mutiorgan failure, and three died. The perforin A91V (NCBI:SNP rs35947132) gene in 6 patients was normal. Glucocorticoid and immunoimpressive therapy were effective in all patients and plasmapheresis used in one severe patient was also effective.

Conclusions: MAS is a serious complication of JIA, especially systemic-onset juvenile idiopathic arthritis. It is essentially important to recognize and treat MAS earlier in order to lower the mortality.

Key words: juvenile idiopathic arthritis; macrophage activation syndrome

                  World J Pediatr 2008;4(2):97-101

Guangzhou, China

Author Affiliations: Department of Pediatrics, First Affiliated Hospital of Sun Yat-sen University, Guangzhou 510080, China (Zhuang XH, Mo Y, Jiang XY, Chen SM)

Corresponding Author: Ying Mo, First Affiliated Hospital of Sun Yat-sen University, Guangzhou 510080, China (Tel: 86-20-87332200 ext 8310; Email: moying80@yahoo.com.cn)

Background: Since the diverse manifestations of renal impairment appear in different periods of Wilson's disease, misdiagnosis or missed diagnosis is not rare. This study was undertaken to find the clinical features of renal impairment in children with Wilson's disease or hepatolenticular degeneration (HLD). 

Methods: Eighty-five children with HLD who had been treated at our department between January 1991 and June 2006 were retrospectively studied. The clinical data of 25 patients with renal impairment were analyzed.

Results: In the 85 HLD patients, 34 had renal impairment. Nine of the 34 patients with D-penicillamine treatment were excluded. In the remaining 25 patients, 7 had initiated symptoms of renal impairment, 5 of them with edema, 1 with gross hematuria, and 1 with acute hemolysis and acute renal failure. Twelve of the 25 patients had proteinuria, 14 had hematuria, and 5 had both proteinuria and hematuria. Urine glucose was positive in 4 patients, urine N-acetyl-β-D-glucosaminidase (NAG) increased in 5, and urine β2-microglobulin increased in 6. Urine red blood cell (RBC) phase was detected in 7 patients, including glomerular hematuria in 5 patients and non-glomerular hematuria in 2. Blood urea nitrogen and creatinine increased in 1 patient. B-ultrasound revealed bilaterally enlarged kidneys in 3 patients. Kidney biopsy showed diffuse mesangial proliferation and IgA deposit in mesangial region in 1 patient. All of the 25 patients had cornea K-F ring and the level of ceruloplasmin decreased. Six patients had a family history of HLD.

Conclusions: The manifestations of renal impairment with HLD are varied. HLD should be excluded from patients with unexplained renal impairment, while those with HLD should take examinations of the kidney to identify renal impairment. We propose that renal function and urinalysis should be checked regularly in patients receiving treatment of D-penicillamine.

Key words: hepatolenticular degeneration; renal impairment; Wilson's disease

                  World J Pediatr 2008;4(2):102-105

Author Affiliations: Division of Pediatric Surgery, Department of Surgery, E-Da Hospital, I-Shou University, Kaohsiung, Taiwan, China (Yeh ML)

Corresponding Author: Ming-Lun Yeh, MD, Division of Pediatric Surgery, Department of Surgery, E-Da Hospital, 1, E-Da Road, Yan-Chao Shiang, Kaohsiung County, Taiwan 824, China (Tel: +886-7-6150011 ext 2975; Fax: +886-7-6150982; Email: ed103434@edah.org.tw)

Background: Tongue-tie is a common but often neglected condition. The indications and the techniques for its division are still controversial. In this report, I will present my personal experience and advocate early and aggressive treatment. 

Methods: Two different techniques are used to divide the tongue-tie at the outpatient clinic without anesthesia. For small infants, a parent sits opposite the doctor, with their knees in contact, the infant lies supine with his/her head towards the doctor. The tongue is lifted superiorly with the doctor's middle finger or middle and index fingers. The doctor uses the other hand to divide the tongue-tie with a pair of blunt-tipped scissors. In a cooperative child with teeth and relatively thin membrane, a sitting position is used. The tongue is elevated upward with a tongue depressor and the tongue-tie is released by a quick cut.

Results: From 1980 to 2006, about 2800 cases of tongue-tie were treated. Post-division minor bleeding in most of the cases was self-limited and always stopped spontaneously very quickly. Three patients who had recurrent tongue-tie underwent repeated division in the operating room under general anesthesia.

Conclusions: Division of tongue-tie is a simple, easy and safe procedure. It can be done as an outpatient procedure without anesthesia in almost all infants and some older children.

Key words: ankyloglossia; ankyloglossia inferior; tongue-tie

                   World J Pediatr 2008;4(2):106-108

Shanghai, China

Author Affiliations: Department of Pediatric Cardiology, Shanghai Children's Medical Center, Shanghai Jiaotong University, Shanghai 200127, China (Zhang YQ, Sun K, Zhu SL, Wu LP, Chen GZ, Zhang ZF, Chen S, Li F, Yi XL)

Corresponding Author: Kun Sun, Department of Pediatric Cardiology, Shanghai Children's Medical Center, Shanghai Jiaotong University, Shanghai 200127, China (Tel: 86-21-38626161 ext 6605; Fax: 86-21-58393915; Email: zyq6812@sina.com)

Background: Quantitative assessment of ventricular function in children with single ventricles is both difficult and subjective because of asymmetric ventricular geometry. The Doppler myocardial performance index (MPI) allows the assessment regardless of ventricular shape. This study was designed to evaluate the feasibility of MPI in assessing ventricular function in children with single ventricles before and after total cavopulmonary connection (TCPC). 

Methods: Subjects consisted of 161 pediatric patients with single ventricles and 80 normal children without heart disease. The maximum positive rate of ventricular pressure change (Max dp/dt) was obtained in 58 patients by cardiac catheterization. Sixty-eight children with single ventricles received TCPC. MPI was calculated from Doppler tracings of ventricular inflow and outflow, then MPI of single ventricles before and after surgery and normal heart were compared.

Results: Normal MPI value was 0.30±0.08 in the left ventricle and 0.26±0.08 in the right ventricle. Compared to normal children, MPI was significantly higher in 161 children with single ventricles (0.54±0.11, P<0.001). MPI correlated inversely with Max (dp/dt) (r=-0.77, P<0.01), and was positively related to age (r=0.54, P<0.01) in patients with single ventricles. MPI did not differ significantly before and after surgery in 68 patients with single ventricles (0.55±0.21 vs 0.51±0.20, P>0.05). However, MPI in 48 patients of <6 years old decreased significantly (0.55±0.21 vs 0.48±0.18, P<0.05), suggesting improved ventricular function.

Conclusions: Compared to normal children, ventricular function is impaired in patients with single ventricles and may worsen with age. MPI provides an accurate method for assessing ventricular function in children with single ventricles before and after TCPC.

Key words: dp/dt; Doppler echocardiography; myocardial performance index; single ventricle

                   World J Pediatr 2008;4(2):109-113

Tabriz, Iran

Author Affiliations: Department of Pediatrics, Tabriz Children's Hospital, Tabriz University of Medical Sciences, Tabriz, I. R. Iran (Bilan N, Behbahan AG, Khosroshahi AJ)

Corresponding Author: Nemat Bilan, MD, Division of Respiratory and Critical Care Medicine, Department of Pediatrics, Tabriz Children's Hospital, Tabriz University of Medical Sciences, Tabriz, I. R. Iran (Tel/Fax: +98-411-5262280; Email: bilan@tbzmed.ac.ir)

Background: Arterial blood gas (ABG) analysis is the major tool for proper diagnosis and treatment of acid-base imbalance, but the invasive nature of arterial puncture and its possible hazards such as arterial spasm have resulted in a worldwide trend toward less-invasive diagnostic methods including venous blood gas (VBG) analysis. This study aimed to evaluate the validity of VBG and its clinical agreement with ABG in the 10 most common diseases in pediatric intensive care unit (PICU), and to answer how far it can replace the ABG test. 

Methods: In a cross-sectional analytical study from September 2004 to September 2005, 200 patients in 10 disease categories received blood gas analysis. Results of blood-gas tests such as pH, PCO₂ and HCO₃ of both arterial and venous blood samples (simultaneously taken from each patient) were recorded and compared by statistical analysis (kappa statistics) to determine their validity and clinical agreement.

Results: In some diseases such as respiratory distress syndrome, neonatal sepsis, renal failure, pneumonia, diabetic ketoacidosis and status epilepticus, VBG analysis showed a good validity (high sensitivity and specificity) accompanied by a suitable clinical agreement (over 40%), but in other diseases such as neonatal seizure, shock, congestive heart failure and congenital heart disease, there was either an inappropriately low validity or a weak clinical agreement (under 20%).

Conclusions: VBG can be used instead of ABG in some diseases such as respiratory distress syndrome, neonatal sepsis, renal failure, pneumonia, diabetic ketoacidosis and status epilepticus, but in other diseases such as neonatal seizure, shock, congestive heart failure and congenital heart diseases, ABG is preferable and must not be replaced by VBG. These results may be used for the formulation of future guidelines for PICU.

Key words: acid-base imbalance; arterial blood gas; intensive care unit; pediatric intensive care unit; venous blood gas

                  World J Pediatr 2008;4(2):114-117

Author Affiliations: Department of Pediatrics, College of Medicine, King Khalid University Hospital, King Saud University, Riyadh, Kingdom of Saudi Arabia (Al-Zamil FA)

Corresponding Author: Fahad Abdullah Al Zamil, MBBS, ABP, Department of Paeditrics (39), College of Medicine, King Khalid University Hospital, P.O. Box 2925, Riyadh 11461, K.S.A. (Tel: 009661-4670807; Fax: 009661-4679463; Email: fahad_alzamil@hotmail.com)

Background: Bacteremia is a major pediatric health care problem despite the availability of new modalities in the management of this disease. The aim of the present study was to determine the incidence and pattern of bacteremia in pediatric group at a tertiary hospital in Riyadh, Saudi Arabia.

Methods: This retrospective study was conducted at the Department of Pediatrics, College of Medicine, King Khalid University Hospital, Riyadh in the period of January 2003 to January 2005. Positive culture was found in 259 patients aged below 15 years with a total of 8244 admissions in the period.

Results: The highest incidence of bacteremia was found in patients aged less than 1 year (57.9%), and the majority of patients (30.5%) were infants aged less than 1 month. Staphylococcus aureus was the most common isolated pathogen (18.7%). Prematurity was associated with 13.2% of the cases, and respiratory tract infection (10.1%) and fever (76.1%) were chief complaints.

Conclusions: Staphylococcus aureus is the most common isolated pathogen. The most common primary infections are respiratory tract infection and septic meningitis. Klebsiella pneumoniae and E. coli are the most common isolated Gram-negative organisms.

Key words: bacteremia; incidence;  Staphylococcus aureus           

World J Pediatr 2008;4(2):118-122

Author Affiliations: Department of Pediatric Surgery, Children's Hospital, Medical Centre of Fudan University, Shanghai 200032, China (Shen C, Zheng S, Wang W, Xiao XM)

Corresponding Author: Shan Zheng, MD, Children's Hospital of Fudan University, Shanghai 200032, China (Tel: 86-21-54524666 ext 2042; Fax: 86-21-64038992; Email: szheng@shmu.edu.cn)

Background: The etiology of biliary atresia is still unknown. It is generally accepted that virus infection may be one of the important causes that lead to biliary atresia. This study aimed to illustrate the relationship between infection of cytomegalovirus and prognosis of biliary atresia. 

Methods: From January 2002 to March 2004, 27 patients who had undergone Kasai's procedure because of biliary atresia were investigated for cytomegalovirus -IgG, IgM and pp65, and their mothers were also examined for confirmation of cytomegalovirus infection. The patients were divided into three groups: infection free group, cytomegalovirus positive group and cytomegalovirus infection group. The rate of jaundice disappearance and the incidence of reflux cholangitis were analyzed statistically. The histopathological changes of the liver were also analyzed.

Results: The positive expression of cytomegalovirus -IgM and cytomegalovirus-pp65 in the patients was higher than that in their mothers (48% versus 14.81% and 37% versus 3.78%, respectively). Compared with the other two groups (80% in the infection free group, and 82% in the cytomegalovirus positive group), the rate of jaundice disappearance after operation in the cytomegalovirus infection group (36%) was significantly lower (P<0.05), and the incidence of reflux cholangitis was higher (P<0.05). Histopathological examination also showed that the degree of liver fibrosis and inflammation was more serious (P<0.05).

Conclusions: There is a strong correlation between cytomegalovirus infection and a lower rate of jaundice disappearance, also a higher post-operational reflux cholangitis. Liver fibrosis seems to be more severe in biliary atresia patients with cytomegalovirus infection.

Key words: biliary atresia; cytomegalovirus; prognosis

World J Pediatr 2008;4(2):123-126

Author Affiliations: Units of Social Pediatrics, Department of Pediatrics, Faculty of Medicine, Hacettepe University (Yalçın  SS, Yurdakök K); Gülveren Health Center, Ankara, Turkey (Gümüş A)

Corresponding Author: S. Songül Yalçın, MD, PhD, Hacettepe University Faculty of Medicine, Department of Child Health and Diseases, Ankara 06100, Turkey (Email: siyalcin@hacettepe.edu.tr)

Background: The present randomized non-blind trial was conducted to clarify the effect of analgesics on febrile responses of booster diphtheria-tetanus-whole cell pertussis (DTP) vaccine in 15-20 months old infants.

Methods: A total of 270 healthy infants were randomized to receive acetaminophen (10 mg/kg) along with DTP vaccine (group 1), 2 hours after vaccination (group 2), and after the appearance of febrile reactions or irritability following vaccination (group 3, control). In addition to study medication, if the axillary temperature was higher than 38ºC or if the infant seemed to be irritable, the parents were told to give acetaminophen (10 mg/kg) and record on a diary card. Vaccinees were monitored for local and systemic reactions.

Results: The incidences of local swelling, pain and erythema were not significantly different among the 3 groups. No difference was observed in the incidence of systemic reactions including febrile responses, irritability, anorexia, and vomiting among the 3 groups during the 7 days after vaccination. Of the infants, 45.1%, 46.7% and 51.9% manifested fever (axillary temperature ≥38ºC) within 24 hours after the vaccination in groups 1, 2 and 3, respectively (P>0.05). The second dose of acetaminophen was less in the control group than in the prophylactic groups (P=0.009).

Conclusions: Administration of acetaminophen along with DTP vaccine or 2 hours after vaccination does not affect the occurrence of febrile responses following booster vaccination. Unnecessary use of analgesics should be prevented.

Key words: acetaminophen; adverse reactions; diphtheria-tetanus-pertussis vaccine; vaccination

Jinan, China

Author Affiliations: Department of Pediatric Surgery, Qilu Hospital of Shandong University, Jinan 250012, China (Li AW, Zhang WT); Key Lab of Cardiovascular Functional and Remodeling Research of Ministry of Education and Health, China (Wang R, Feng JB); Department of Microbiology of Medical Collage of Shandong University, China (Ruan Y)

Corresponding Author: Wen-Tong Zhang, Department of Pediatric Surgery, Qilu Hospital of Shandong University, Jinan 250012, China (Tel: 86-531-82169400; Email: liaiwuxie@yahoo.com.cn)

Background: The cause of Hirschsprung's disease (HD) remains unclear, but currently there are two theories: the mutation of the RET gene and the change of enteric microenvironment. This study was undertaken to elucidate the cause of HD by assessing the expression of laminin (LN), laminin gene, and the RET gene in the aganglionic segment, transitional zone and normal segment of the colon in patients with HD. 

Methods: Specimens of the aganglionic segment, transitional zone, and normal segment of the colon from 27 cases of HD were stained immunohistologically by a PV 9000 polymer detection system. Photos were taken by the RS image system, and the staining area of each image was calculated by a JD 801 image analysis system. The qualitative expressions of the laminin gene and RET gene of these three segments in the 27 cases were detected by reverse transcription-polymerase chain reaction (RT-PCR), and the difference of the expressions was shown by the alpha 9900 image analysis system. The quantitative expressions of the laminin gene and RET gene in the three segments were detected by real-time quantitative PCR, and the difference of the expression was shown by SDS software.

Results: The laminin and laminin gene were expressed in all the three segments. The expression was higher in the aganglionic segment than in the dilated segment, and the expression decreased stepwisely from the aganglionic segment to the normal segment, while the expression of the RET gene was opposite, showing an increased segmenting from the aganglionic segment to the normal segment. The correlation between the expressions of the two genes was negatively correlated.

Conclusions: The highly increased expression of LN in the aganglionic segment may cause early differentiation, early maturation and premature ecesis of enteric nervous cells. The change of the microenvironment of colon wall may be the cause of HD. The negative correlation between the expression of the two genes may be closely related to the occurrence of HD.

Key words: gene expression; Hirschsprung's disease; laminin; RET

World J Pediatr 2008;4(2):135-139

Huainan, China

Author Affiliations: Department of Aetiology and Immunology, Anhui University of Science and Technology, Huainan 232001, Anhui, China (Wang J); Department of Pediatrics, Maternity and Infant Health Institute of Huainan, Huainan 232007, Anhui, China (Lu Q)

Background: Infantile and undifferentiated immune cells in the pathogenesis of neonates with HIE have been studied in recent years. This study was undertaken to observe the expression level of T subsets and membrane interleukin-2 receptor (mIL-2R) in the peripheral blood of newborns with hypoxic ischemic encephalopathy (HIE) and its clinical manifestations. 

Methods: The peripheral blood mononuclear cells (PBMCs) of newborns with HIE and normal controls were isolated by the routine Ficoll-Hypaque method, and the rates of CD₃⁺, CD₄⁺, CD₈⁺, CD₄⁺/CD₈⁺ and mIL-2R induced and not induced by phytohemagglutinin (PHA) were detected by biotin-streptavidin (BSA) at the first, third and seventh day after birth.

Results: At the first day after birth, the positive rates of CD₃⁺, CD₄⁺, CD₈⁺, CD₄⁺/CD₈⁺ and mIL-2R induced and not induced by PHA were (37.4±6.7)%, (29.4±6.9)%, (16.7±3.3)%, 1.8±0.5, (3.6±1.1)% and (20.9±4.8)%, respectively. Significant differences were observed between the HIE group and the normal controls (P<0.01-P<0.05). At the third day after birth, the positive rates of CD₃⁺, CD₄⁺, CD₈⁺, CD₄⁺/CD₈⁺ and mIL-2R induced and not induced by PHA were (41.0±7.4)%, (35.8±6.9)%, (22.6±4.5)%, (1.7±0.5), (3.9±1.2)%, and (22.8±5.1)%, respectively. There were significant differences between the HIE group and the normal controls (P<0.05). At the seventh day after birth, the positive rates of CD₃⁺, CD₄⁺, CD₈⁺ were (41.8±6.1)%, (36.4±5.1)% and (25.6±4.3)%, respectively. There was significant difference between the HIE group and the normal controls (P<0.05). The ratio of CD₄⁺/CD₈⁺ and the expression level of mIL-2R induced and not induced by PHA were 1.5±0.3, (4.1±1.2)% and (23.8±5.2)%, respectively. There was no significant difference between the HIE group and the normal controls (P>0.05).

Conclusions: Peripheral blood mononuclear cells of newborns are immature and undifferentiated with a very low expression level of surface markers. The changes of cell immunity involve in the pathogenesis of HIE. The disorder of cellular immune function exists in newborns with HIE. Cell immunity and immune regulative response in newborns are gradually improved or mature during the period of growing, facilitating the recovery from brain injury caused by HIE.

World J Pediatr 2008;4(2):140-144

Key words: biotin-streptavidin; hypoxic ischemic encephalopathy; memberane interleukin-2 receptor; newborns; peripheral blood mononuclear cells; T subsets

Author Affiliations: Pediatric Oncology Division, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India (Thavaraj V, Seth R)

Corresponding Author: Vasantha Thavaraj, MD, Indian Council of Medical Research, Department of Pediatrics, AIIMS, New Delhi 110029, India (Tel: 26594610; Fax: 26862663; Email: sowmyam.vasantha@gmail.com)

Background: Chronic myeloid leukemia (CML) in blast crisis has a dismal prognosis. Imatinib mesylate (IM) is a new drug which has been shown to induce complete hematological remission in 55% and complete cytogenetic response in 22% of the patients with CML in blast crisis.

Methods: A child with CML in lymphoid blast crisis was diagnosed by complete hematological and bone marrow examination. There was no central nervous system (CNS) leukemia at presentation. The child was treated with IM at a daily dose of 400 mg.

Results: The child showed remission after IM administration for 28 days and remained in remission till 59 days. On day 59 she experienced headache and vomiting. Results of cerebrospinal fluid taken for cytopathology showed CNS leukemia. MCP 841 protocol for ALL and weekly intrathecal triple therapy (ITT) was given.

Conclusions: Along with IM treatment in patients with CML in blast crisis, weekly ITT with  hydrocortisone, cytosine arabinoside and methotrexate  should be recommended to prevent CNS involvement.

Key words: blast crisis; central nervous system leukemia; chronic myeloid leukemia; imatinib mesylate; intrathecal triple therapy 

                   World J Pediatr 2008;4(2):145-147

Author Affiliations: Department of Pediatrics, UPTH, Port Harcourt, Rivers State, Nigeria (Otaigbe BE)

Corresponding Author: Barbara Edewele Otaigbe, Department of Pediatrics, UPTH, Port Harcourt, Rivers State, Nigeria (Tel: 234 8023193927; Email: barbiejoe64@yahoo.com)

Background: Masturbation is a taboo and not discussed openly in Africa. It is still worse when it occurs in an infant and will thus call for a visit to the traditional healers for 'spiritual intervention' and prompt female genital cutting/mutilation to reduce the child's libido and risk of sexual promiscuity as she gets older. Because of its peculiar presentation in children without manual genital stimulation, it is often misdiagnosed. A Medline search showed sparse information on infantile masturbation and none from Africa.

Methods: A 15-month-old female was brought into a clinic in Port Harcourt, Nigeria, with a history of unusual rocking with adduction of the thighs noticed since 3 months of age. At 10 months of age, the child would lean forward and rock continuously on a hard surface such as a chair or an adult's lap. Rocking was accompanied with lip smacking, eye rolling, shaking, "watching of television in the air", spasm and feeling of fatigue and then resumption of the motions unless she was distracted. The child had been spanked occasionally by both parents with no noticeable change in behavior. Older female relatives had suggested female genital cutting or circumcision, but her father resisted vehemently.

Results: Infantile masturbation was viewed by the pediatrician and a 10-minute video recording was taken to confirm the diagnosis. The mother was reassured, counseled about behavioral and environmental modification. There was a marked improvement when the baby was seen 6 weeks later.

Conclusions: Infantile masturbation rarely diagnosed in our region is probably due to a low index of suspicion and because mothers are afraid of stigma. We suggest that infantile masturbation should always be considered as a differential diagnosis of strange movement mimicking epilepsy in infants, and when a diagnosis is made parents should be counseled against female genital cutting. A video recording is encouraged fora correct diagnosis.

Key words: female genital cutting; infant; masturbation; video recording

                  World J Pediatr 2008;4(2):148-151

Taipei, Taiwan, China

Author Affiliations: Department of Pediatrics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan, China (Wang CC, Hwu WL, Lin KH)

Corresponding Author: Kai-Hsin Lin, Department of Pediatrics, National Taiwan University Hospital, No. 7, Chung-Shan South Road, Taipei 100, Taiwan, China (Tel: 886-2-2312-3456 ext 5988; Fax: 886-2-2393-4749; Email: link@ha.mc.ntu.edu.tw)

Background: Mucopolysaccharidosis type VI (MPS VI or Maroteaux-Lamy syndrome) is a rare autosomal recessive genetic disorder. We treated a 10-year-old girl with Maroteaux-Lamy syndrome successfully with bone marrow transplantation (BMT). 

Methods: The patient had reconstitution with bone marrow from her HLA-matched brother. One month after BMT, arylsulfatase activity of the recipient's leukocytes became normal. No graft-versus-host disease (GVHD) was observed. Arylsulfatase B activity was maintained and the urinary excretion of glycosaminoglycans (GAGs) became normal.

Results: The clinical response of the patient was slow but persistent during 12 years after BMT. Improved motor function included walking alone for a long distance without aid, riding a bicycle, taking a bath by herself, etc. Besides, few infections occurred. Exertional dyspnea, severe snoring, and vertigo were much improved.

Conclusions: Early intervention is recommended for BMT. Allogeneic BMT may provide a better life quality as illustrated in the present case.

Key words: arylsulfatase; bone marrow transplantation; glycosaminoglycan; mucopolysaccharidosis type VI