Iranian Journal of Pediatrics
Volume:22 Issue: 3, 2012

Neonatal testicular torsion, also known as perinatal testicular torsion is a subject of debate among surgeons. Neonatal testicular torsion either intrauterine or postnatal results into extravaginal torsion which is a different entity than intravaginal type but has the same devastating consequences if not diagnosed and managed well in time. Testicular torsion results into acute ischemia with its resultant sequaele such as abnormality of testicular function and fertility. Urgent surgical exploration and fixation of the other testis are the key points in the management. General anesthesia is not a contraindication for exploration as thought before. Diagnosis and controversies on management of testicular torsion are discussed in this review.

Since 1980s, the clinical and biological characteristics of urolithiasis in Tunisian children have continuously evolved. This retrospective study defines the current status of urolithiasis among children and adolescents in Tunisia. We retrospectively reviewed the records of 310 children and adolescents (age: 3 months - 19 years) between 2003 and 2010, holding urolithiasis. A first-line metabolic, urine and plasma work-up was performed in all patients. Physical and chemical analysis of the stones was performed respectively by stereomicroscopy and infrared spectroscopy. Statistical analysis of the results was performed with SPSS 11.0 software. The Chi-square test was used for comparison of percentages. Our study shows a male predominance of urolithiasis with a sex ratio of 1.5. Stones were located in the upper urinary tract in 70.7% of cases. Calcium oxalate was the predominant constituent in 52.6% of stones. There was an increasing prevalence of calcium oxalate stones according to age in both genders (48.6% in infants vs 68.5% in teenagers (P<0.01)). Struvite was more frequent in patients aged 2-9 years (P<0.02) and significantly more prevalent in boys than in girls (P<0.001). Ammonium urate stones were observed in 14.2% and were more frequent in infants. Our results emphasize a high percentage of calcium oxalate stones and a low percentage of struvite stones. The persistence of urate stones reflects the particular eating habits and the infectious risk factors. The patient’s age is an important factor that must be taken into account during etiopathogenic work-up.

Four combinations of five neutral sequence changes at rs713040, rs10768683, rs7480526, rs7946748, and rs1609812 occurring in the human beta globin gene defined as frameworks have been reported in beta globin gene. Here we report for the first time the frequency of these frameworks in 46 thalassemia patients of North Iran using Denaturing Gradient Gel Electrophoresis. All these frameworks called framework 1, 2, 3, 3a were present at the frequency of 23.9%, 45.7%, 6.5% and 23.9% respectively. These frameworks may be used for tracking mutant alleles in prenatal diagnosis programs.

The purpose of the present study is to compare efficacy and safety of buccal midazolam with intravenous diazepam in control of seizures in Iranian children. This is a randomized clinical trial. 92 patients with acute seizures, ranging from 6 months to 14 years were randomly assigned to receive either buccal midazolam (32 cases) or intravenous diazepam (60 cases) at the emergency department of a children''s hospital. The primary outcome of this study was cessation of visible seizure activity within 5 minutes from administration of the first dosage. The second dosage was used in case the seizure remained uncontrolled 5 minutes after the first one. In the midazolam group, 22 (68.8%) patients were relieved from seizures in 10 minutes. Meanwhile, diazepam controlled the episodes of 42 (70%) patients within 10 minutes. The difference was, however, not statistically significant (P=0.9). The mean time required to control the convulsive episodes after administration of medications was not statistically significant (P=0.09). No significant side effects were observed in either group. Nevertheless, the risk of respiratory failure in intravenous diazepam is greater than in buccal midazolam. Buccal midazolam is as effective as and safer than intravenous diazepam in control of seizures.

Recurrent abdominal pain (RAP) by itself is one of the common reasons in child-aged patients to refer to a clinician. Some of these patients are presented with more serious features, so-called the “red flag”. The most important issue in management of RAP is to distinguish the type of it, whether it is functional or organic. In this study we aimed to assess the redundancy of red-flagged RAP with findings of esophago-gastro-deudonoscopy. In a 2 year prospective study 150 consecutive children with RAP who showed red flags underwent esophago-gastro-deudonoscopy. The prevalence of each finding was recorded. Overall positive predictive value of predicting an endoscopic finding while having a red-flag was calculated. Among all the patients, 126 cases showed at least a positive finding in their endoscopy that corresponded to the positive predictive value of 84% for predicting the presence of an endoscopic finding according to red flags. Interestingly, 20% of patients showed hiatus hernia when surveyed. Comprehensive physical examination is needed to avoid performing esophago-gastro-deudonoscopy without indication in patients with recurrent abdominal pain.

This study tried to assess sensitivity, specificity, positive and negative predictive value of procalcitonin for diagnosis of neonatal bacterial infections. This prospective cross sectional study was carried out during an 18-month period in NICU and neonatal wards of Besat Hospital in Hamedan province, Iran. 39 symptomatic infants with clinical and laboratory findings in favor of bacterial infection with a positive blood, CSF, and/or supra pubic urine culture entered the study; 32 newborns without any bacterial infection served as control group. Quantitative procalcitonin level ≥0.5 ng/ml was accepted as pathological. Finally sensitivity, specificity, positive (PPV) and negative predictive value (NPV) were calculated for procalcitonin test. 20 blood cultures, 17 urine cultures and 8 CSF cultures were positive. Sensitivity, specificity, PPV and NPV for procalcitonin test was 76.9%, 100%, 100% and 78% respectively. Diagnostic value of procalcitonin test in accordance with blood culture for mentioned items was 85%, 100%, 100% and 91.4% respectively. Its diagnostic value according to urine culture was: sensitivity 70.6%, specificity 100%, PPV 100% and NPV 86.4%, and according to CSF culture was: sensitivity 75%, specificity 100%, PPV 100% and NPV 94.1% respectively. The results show that the procalcitonin test has high sensitivity, specificity, PPV and NPV for diagnosis of neonatal infections.

Brucellosis is a prevalent disorder in children of developing countries. The aim of this study is to describe the epidemiology and long term prognosis of Brucellosis in Khorasan, Iran. This is a descriptive cross sectional study (from November 2003 up to February 2006), the subjects of which are composed of 82 patients (from Imam Reza hospital, Mashhad, and Health Center of Kashmar). In this study the diagnosis of Brucellosis is based on serology accompanied with clinical signs and symptoms. Our strategy for duration of treatment was to treat all patients for at least 6 weeks. We followed the patients by phone and if necessary by visiting. During 38 months we had 82 children with Brucellosis. The mean age was 8.02 y, and 40% of them were girls (M/F=1.21). Summer with 45.9% of the cases was the peak season. History of consuming raw dairy products, close contact with farm animals, living in village and Brucellosis in family was found in 91.6%, 76%, 70.24% and 41.1% of the cases respectively. The presenting symptom in 79.7% of the cases was joint pain, 72.9% had history of fever during the course of the disease. Arthritis, splenomegaly and lymphadenopathy were found in 60.97%, 16.9%, 7.5%, of patients respectively. The therapeutic regimen of 48.7% of our patients was Co-trimoxazole and rifampin. We followed 74% of the patients for at least 3 years which showed the relapse rate of 6.5 %. There was a case of reinfection, a patient with residual sequel and one death related to Brucellosis in our case series. Brucellosis is still a common disease in our children and at least a risk factor for it can be found in the history of almost all cases of pediatric Brucellosis. With at least six weeks treatment with two antibiotics and with close follow up, we can decrease the relapse rate in pediatric Brucellosis to zero, even without repeating the serology during or after treatment.

Mortality of very low birth weight premature infants is of great public health concern. To better guide local intervention program, it is essential that current and reliable statistics be collected to understand the factors associated with mortality of these infants. Data of very low birth weight premature infants admitted to a neonatal unit during 2002-2009 was retrospectively collected. Changes in perinatal care between two halves of the study period (2002-2005 and 2006-2009) were identified. Factors associated with in-hospital mortality were found by logistic regression and a predictive score model was established. A total of 475 cases were enrolled. In-hospital mortality decreased from 29.8% in 2002-2005 to 28.1% in 2006-2009 (P>0.05). More infants born<28 gestational weeks survived to discharge in the latter epoch (38.1% vs. 8.3%, P<0.05). Persistent pulmonary hypertension of newborn, pulmonary hemorrhage, birth weight <1000 grams, gestational age <33 weeks, feeding before 3 postnatal days and enteral feeding were found predictors of in-hospital mortality by logistic regression. The discriminating ability of the predictive model was 82.4% and the cutoff point was -0.56. Survival of very low birth weight premature neonates was not significantly improved in 2006-2009 than 2002-2005. Infants with a score higher than -0.56 were assessed to be at high risk of in-hospital mortality. Multi-center studies of planned follow-up are needed to develop a comprehensive and applicable score system.

Ablation techniques in children arrhythmia have significantly progressed in the past decade; however, the number of pediatric ablations is still significantly lower than that in adults. Accordingly, there is less information regarding the success rate and complications in this age group. All pediatric ablations conducted Between March 2005 and February 2011 at Rajaie Heart center were studied. Abolishing the arrhythmia source by the end of procedure was considered as success. Recurrences before hospital discharge and those thereafter were named early recurrence and late recurrence, respectively. A total of 125 catheter ablations were performed for 112 patients. Of them 118 (94.4%) procedures were successful. The success rate was significantly higher in the patients with atrioventricular nodal reentry tachycardia (AVNRT). Of 105 patients who continued followed up program, 7 (6.7%) cases experienced recurrence; the recurrence rate was inversely dependent on the patients’ body size (p value<0.05). There was no mortality. Five cases were complicated during or early after the procedures, all the complications were cured completely. Therapeutic electrophysiology in children is as an effective and relatively low-risk method. The recurrence and complication rates are similar to those reported in adults. Considering our results and the previous reports, pediatric patients with serious arrhythmia should not be deprived from ablation and should not be exposed to long-term toxic drugs.

The aim of the study was the evaluation of patients treated with a diagnosis of gastroschisis and to establish the factors which affected the morbidity and mortality. Twenty-nine patients, managed for gastroschisis during 2000-2010 were reviewed retrospectively. Patients were analysed in respect to gestational age, birth weight, associated anomalies, type of delivery, operative procedures, postoperative complications, total parenteral nutrition (TPN) related complications. The factors affecting mortality and morbidity were determined. Associated abnormalities were present in 24% of the patients. Eleven patients underwent elective reduction in the incubator (Bianchi procedure) without anaesthesia. Eight patients had delayed reduction with silo and ten patients had primary closure. Although the type of delivery had an effect on morbidity but not mortality, gestational age, birth weight, and the operative procedure performed had no effect on morbidity or mortality. Duration until tolerance of oral intake, and of TPN and hospitalization were found to be statistically significantly shorter in the group of babies delivered by caesarean section. The mortality of gastroschisis is reported to be decreasing with the development of antenatal care, neonatal intensive care and TPN. In our study the most important cause of mortality was the abdominal compartment syndrome and multi-organ failure in the early years. Long hospitalization periods and sepsis were the main causes of mortality in recent years.

Epilepsy is a most common serious neurological disorder and is one of the world’s most prevalent non-communicable diseases. The aim of this study was to determine the prevalence and risk factors of epilepsy in 0–17 year old children in Trabzon, Turkey. A cross-sectional epidemiological investigation was performed in two phases, a screening phase and a confirmation of the diagnosis phase. The gold standard was a clinical investigation and neurological examination. The diagnosis of epilepsy followed clinical guidelines proposed by the International League against Epilepsy (ILAE). The chi-square test was used in analysis of the results and P-value <0.05 was calculated. The prevalence per 1000 participants of epilepsy was 8.6 (5.9–11.4; 95%CI). We detected 37 cases (18 males and 19 females) of epilepsy. The male/female ratio was 0.95. This study showed an increased risk for epilepsy with low socioeconomic level, a history of postpartum seizure, meningitis, head trauma, febrile convulsion and family history of epilepsy. More than one seizure type was present in 15 (40.5%) of epileptic children. Generalized tonic-clonic seizures were determined in 24 patients (64.9%) and absence type in 9 (24.3%). It was found that 25.0% of children with epilepsy had never visited the school at the time the study was performed due to the disease and attendant seizures. The prevalence of epilepsy in Trabzon is low compared to other parts of Turkey and other developing countries.

Many diseases form their basis during childhood. One example is the changes in vascular structure and function, leading to atherosclerosis. In this study, we have assessed the impact of exposure to cigarette smoke on blood pressure of elementary school children of Kermanshah. 80 elementary school children exposed to cigarette smoke and 80 not exposed to smoke were studied in fall 2010. Information regarding the smoking status of parents and the children’s health were obtained through questionnaires completed by parents. After physical examination and exclusion of those children with acute and chronic diseases as well as those consuming medicine, we measured and compared blood pressure in the exposure and non-exposure groups. Data were analyzed using the ANOVA statistical test. Values are expresses as Mean±SD. The mean systolic and diastolic blood pressures of the exposure group were higher than those of the non-exposure group (109.3±9.97 /64.92±7.36 vs105.47±8.98/62.5±7.01, respectively; CI: 0.95, p<0.5). Our study indicates that systolic and diastolic blood pressures are higher in those elementary school children exposed to cigarette smoke compared to those who are not.

The objectives of this study were a) to develop a physical activity program for nursery schools, and b) to evaluate the effects of this program on fundamental movement skills of preschool age children in Iran. In this quasi-experimental study 147 children from five nursery schools in five different cities in Iran were enrolled. A physical activity program was developed for nursery children. Trained nursery physical activity instructors conducted the program for 10 weeks for all subjects. The levels of gross motor development of all subjects were measured before intervention and after 10 weeks physical activity program employing the Test of Gross Motor Development‐edition 2 (TGMD-2). The participants in this study had a mean (SD) age of 4.95 (0.83) years. At the end of the study, scores of subjects at all components of TGMD-2 (including locomotor, object control, sum of standard scores and gross motor quotient) were significantly improved compared to the baseline scores (P<0.001). Based on descriptive rating of the «Gross Motor Quotient» in the base line, 11.5% of subjects were superior/very superior (GMQ >120) and after 10 weeks intervention this rate was increased to 49.7% of all subjects. It seems that the developed physical activity program conducted by trained nursery physical activity instructors could be an effective and practical way of increasing levels of fundamental movement skills of preschool children in Iran.

Microbiota has an important role in human metabolism, nutrition, immunity, and protection against colonization by pathogenic microorganisms. Radiation can harm the beneficial members of the gastrointestinal tract flora. Our study included 75 rural children population aged 4-18, who lived in contaminated area exposed to natural environmental radiation with clinically symptom of irritable bowel syndrome and 20 healthy urban participant aged 5-15 as control group. The intestinal bacterial microbiota was examined from stool samples. Our results indicated the population levels of microbiota such as Enterobacter, Enterococcus, Lactobacillus and Bifidbacterium in caecal contents in 61 subjects (81.3%) was significantly less than in control group. We investigated alternation of the intestinal microbiota affecting by ionizing radiation in children with clinically syndrome of irritable bowel syndrome.

The purpose of this study was to identify the relationship of neurotoxic inorganic elements in the hair of patients with the diagnosis of Neural Tube Defects. Our initial hypothesis was that neurotoxic inorganic elements were associated with Neural Tube Defects. Twenty-three samples of hair from newborns were obtained from the General Hospital, “Aurelio Valdivieso” in the city of Oaxaca, Mexico. The study group included 8 newborn infants with neural tube pathology. The control group was composed of 15 newborns without this pathology. The presence of inorganic elements in the hair samples was determined by inductively-coupled plasma spectroscopy (spectroscopic emission of the plasma). The population of newborns with Neural Tube Defects showed significantly higher values of the following elements than the control group: Aluminium, Neural Tube Defects 152.77±51.06 µg/g, control group 76.24±27.89 µg/g; Silver, Neural Tube Defects 1.45±0.76, control group 0.25±0.53 µg/g; Potassium, Neural Tube Defects 553.87±77.91 µg/g, control group 341.13±205.90 µg/g. Association was found at 75 percentile between aluminium plus silver, aluminium plus potassium, silver plus potassium, and potassium plus sodium. In the hair of newborns with Neural Tube Defects, the following metals were increased: aluminium, silver. Given the neurotoxicity of the same, and association of Neural Tube Defects with aluminum and silver, one may infer that they may be participating as factors in the development of Neural Tube Defects.

Since a new epidemic (third wave) of retinopathy of prematurity (ROP) sensed throughout the world in recent years, we aimed to assess newer risk factors for advanced ROP which needs treatment in Iranian neonates as a new target output of various neonatal care for this serious disease of newborn infants especially those born prematurely.In an analytic cross-sectional study all neonates <1500 g birth weight and/or <32 weeks gestational age admitted to our NICU as a tertiary level intensive care unit in Milad Hospital, Tehran, Iran during June 2006-June 2007 were included. All data were extracted from medical records and compared in two groups with or without treatment. Seventy one neonate infants entered our study. Twelve neonates (16.9%) progressed to advanced ROP. Final multivariate analysis model revealed that mean leukocyte counts during first 14 days of life (P=0.04), transfusions number (P=0.01) and hypocapnic episodes during first 14 days of life (P=0.02) were significantly different between the two groups of infants independently, even after simultaneous adjustment.Based on our findings, more amenable risk factors should be approached regarding more careful modulation of such overlooked risk factors which may lessen the burden of prematurity.

The purpose of this study was to examine the relationship between T-peak-to-T-end interval and its dispersion in children with syncope to detect possible repolarization abnormalities in these patients. We enrolled 19 patients with a positive tilt test for syncope (7 boys, 12 girls) and 35 participants with normal results on the test. Mean age was 11.4 ± 3.1 years in patients and 10.0 ± 5.1 years in controls (P = 0.27). The T-peak-to-T-end interval in lead V1 was significantly longer in patients with a positive tilt test (0.36 ± 0.062 versus 0.32 ± 0.071, P = 0.007). T-peak-to-T-end interval dispersion was significantly greater in the group of patients (0.15 ± 0.07 versus 0.11 ± 0.04, P ± 0.003). The T-peak-to-T-end interval in lead V1 and T-peak-to-T-end dispersion were significantly larger in patients with a positive tilt test. Our findings suggest a depolarization abnormality in children with syncope.

Puberty is a critical time between childhood and adulthood. Puberty onset is determined by the appearance of breast buds in girls. Many studies have been reported that the mean age of breast development is decreasing. The aim of this study was to provide updated data on the pubertal development of girls and to evaluate precocious puberty in our population. This cross sectional study was conducted in 6 to 16 years old school girls during 2009 to 2010 in Qazvin. 2240 healthy girls from all geographical regions with every socioeconomic status were selected by a stratified multistage cluster design to obtain representative sample of population. A questionnaire including demographic data, anthropometric measurements, secondary sexual characteristics, menarche status and its onset was filled out for every participant. Secondary sexual characteristics including breast development (B1–5) and pubic hair (PH 1–5) were evaluated according to Marshal and Tanner recommendation. The mean ± SD of height, weight, and BMI of participants was 139.7±14.5, 36.1±12.9 and 17.9±3.7 respectively. The mean age (10th – 90th percentile) of B2 and PH2 were 9.71(7.67 – 11.4) and 9.82 years (7.84 – 11.42) respectively. Mean age of menstruation was 12.52 years. The mean BMI was significantly higher in pubertal females comparing to prepubertal girls (p <0.001). Average duration of puberty (the time from initiation of puberty to menarche) was 2.81. The mean age of pubertal onset in girls living in Qazvin is 9.71 years. Menarche occurs at mean age of 12.52 and onset of puberty earlier than 6.24 years will be precocious. We found that girls in Qazvin had a slightly earlier age of initiation of puberty and of menarche in comparison with other studies in Iran.

Clonidine is an α2-agonist which is used as a sedative premedication in children. There are conflicting results in the published literature about the effect of clonidine on the incidence of post operative nausea and vomiting (PONV). We therefore decided to evaluate the effect of oral clonidine given preoperatively on the incidence of PONV in children after appendectomy. sixty children, 5-12 years old, classified as American Society of Anesthesiologists physical status I and II, who were scheduled for appendicectomy were enrolled in this randomized double blinded clinical trial. Patients were randomly assigned into two groups of 30 patients. Patients in clonidine group were given 4 µg/kg-1 clonidine in 20 cc of apple juice and patients in control group were given only 20 cc of apple juice 1 hour before transporting to operating room. The protocol of general anesthesia and postoperative analgesia was the same for two groups. Incidence of PONV and antiemetic usage of patients were assessed during 0-24 hours after anesthesia. The patients'' characteristics were similar in two groups. Patients who had received clonidine had significantly less episodes of PONV and also less rescue antiemetic usage than patients in control group. we showed that oral clonidine at a dose of 4 µg.kg -1 administered preoperatively is associated with a reduced incidence of postoperative vomiting in children who have undergone appendectomy.

The suicidal rate among epileptic patients is up to 5 times more than general population and depression is the most common mood disturbance among them while usually under noticed. This study was performed to determine possible symptoms of psychiatric disorders for suicidal behavior in pediatric patients with epilepsy that had attempted suicide. Among medical records of 1169 patients under 17 years of age being admitted to the exclusive university hospital for poisoning in Tehran since April 2006 to Feb 2008 due to attempt to suicide, 31 cases (13 male and 18 female) with mean age 15.8±1.3 years had concomitant epilepsy. Mental status and epilepsy data sheet of these patients were analyzed. The psychological evaluation of these 31 cases revealed long lasting symptoms of psychological disorder in 21 (91.4%) cases before their attempt to suicide while only 5(16%) cases had been noticed for psychiatric care and merely 3 of them had been under treatment. Despite strong correlation between affective disorders and epilepsy it is unfortunately under-diagnosed or undertreated. Since overdose of antiepileptic drugs used for treatment of epilepsy may be lethal, dismissing suicidal behavior can be life threatening.

To study the prevalence rate of tuberous sclerosis complex in autistic disorder. We studied one cohort of children followed up since 2005 until 2009, with autistic disorder, to determine the incidence of tuberous sclerosis complex. We established an autistic disorder registry in 2005 at China Rehabilitation Research Center. During the 4-year period (2005–2009), we collected a database of 429 children (390 boys and 39 girls; male to female ratio 10:1) with autistic disorder and pervasive developmental disorders. We routinely examined all children with autistic disorder for any features of tuberous sclerosis complex by looking for neurocutaneous markers such as depigmented spots. In those with infantile spasm or epilepsy, the clinical features of tuberous sclerosis complex were monitored regularly during follow-up. Of these, five had tuberous sclerosis complex. Thus, the prevalence rate of tuberous sclerosis complex in autistic disorder is 1.17%. All of these children were mentally retarded with moderate to severe grades. Their IQ or developmental quotient was less than 70. The prevalence rate of tuberous sclerosis complex in autistic disorder was 1.17% in our region; autism spectrum disorder is a condition that might be associated with development of tuberous sclerosis complex.

Congenital insensitivity to pain with anhidrosis (CIPA) is characterized by recurrent episodes of infections and unexplained fever, anhidrosis (inability to sweat), and absence of reaction to noxious stimuli, self-mutilating behavior, mental retardation and damages to oral structures. In this article, we have demonstrated the signs and symptoms of 4 children that refer to the pediatrics department of the Imam Khomeini hospital and assay about their complications with this disease. They mostly presented by recurrent osteomyelitis in their feet that severely controlled by antibiotic therapy and even surgery. They had no pain sensation in spite of deep sore and infection. This syndrome can be diagnosed by clinical and paraclinical tests together but it would be better to confirm by genetic test. The diagnosis of this syndrome helps us to try for the better quality of life for the patients and avoid unnecessary amputations.

Leukemia is the second most malignant tumor in children. The chemotherapy induced anemia (CIA) and hemorrhage are the most popular side-effects due to the myelosuppression of chemotherapy. So far, multitransfusion is still the timely and effective measure in curing these complications. The acquisition of human immunodeficiency virus (HIV) infection and subsequent development of acquired immune deficiency syndrome (AIDS) by component transfusion from donors at risk is well known, and prognosis of HIV infection is particularly severe in patients with leukemia. We report two leukemic cases that were infected with HIV through transfusion. The first patient was totally transfused with 16 U RBC, 20 U platelets and 820 ml fresh frozen plasma, and later test showed that his first used FFP carried the HIV. For the second 2 U RBC, 5 U platelets and 1500 ml fresh frozen plasma were transfused to her. Late test of her used blood products showed that the fourth RBC carried the HIV. Both results were confirmed by the local Center for Disease Control (CDC). They were not transfused before the diagnosis of leukemia. Preventive inoculation in both children was normal. Their parents were healthy with negative HIV-Ab. Since the two leukemic patients suffered transfusion-associated HIV with poor prognosis, we must take more efforts to utilize blood products judiciously, manage blood donors, test blood samples etiologically, shorten HIV testing «window periods» and preventive vaccination against HIV to reduce the incidence as low as possible.

Malignant infantile osteopetrosis (MIOP) presents early in life with extreme sclerosis of the skeleton and reduction of bone marrow spaces. Since there is a defect in the bone marrow, the disease can cause anemia, extramedullary hematopoiesis secondary to anemia leading to hepatosplenomegaly, cranial nerves compression and severe growth failure. This disorder is often lethal within the first decade of life because of secondary infections. Stem cell transplantation (SCT) remains the only curative therapy. We report a two-month old male infant, diagnosed as MIOP while investigating the cause of hepatosplenomegaly. The patient was referred for stem cell transplantation. Malignant infantile osteopetrosis should be kept in mind as a rare cause of hepatosplenomegaly and the patient should be referred for stem cell transplantation before neurologic or visual impairment develops.

Macrostomia as a rare facial deformity is classified among facial clefts. It originates from failure in union of maxillary and mandibular prominences of first brachial arch during 7th embryonic week. We report a case of bilateral macrostomia (bilateral lip cleft) in a female newborn as a sole entity without other skeletal and facial deformities. The cleft was repaired by a simple linear triangular flap using extra oral landmarks to locate lip commissures. Patient was followed through a six-month period. Acceptable results were gained in mouth appearance as well functional aspects. Commissural repair through a linear flap can result in minimal visible scar with satisfying results in both esthetics and functional aspects.