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COVID-19 has affected individuals of all age groups, both physically and mentally. We aimed to determine anxiety and depression in children diagnosed with COVID-19. Fifty children aged 8 to 18 years diagnosed with COVID-19 were included in the study. The children were evaluated the revised Child Anxiety and Depression Scale, STAI form TX-I (state anxiety inventory), and STAI form TX-II (trait anxiety inventory). Child Sleep Habits Questionnaire was applied for one of the parents according to three different periods. The periods were established as before the pandemic, during the illness-quarantine process, and after the quarantine. We observed the highest scores for depression-anxiety and the poorest sleep quality during the quarantine period. The scores for depression-anxiety were lower, and sleep quality scores were higher in the prepandemic period compared with after the quarantine period. Measures should be taken to protect mental health for children with COVID-19.

Aims The influenza virus is an infectious disease with acute respiratory tract infections, caused secondary bacterial infections and death. In this study, we aimed to determine which predictors were associated with the need for high-flow nasal cannula oxygen therapy (HFNC) and transition to intensive care for influenza virus and also to compare single viral pathogens with multiple ones. Methods Inpatients under the age of 5 with influenza virus-related respiratory tract infections between November 2015 and March 2019 were included in the study. Demographic features, comorbidities, symptoms, secondary bacterial infection, need for HFNC and pediatric intensive care unit and respiratory support system, length of hospital stay, polymerase chain reaction tests were recorded. Results A total of 93 patients were included in the study. It was determined that 53.8% of the cases were male and 84.9% were under the age of 2. Comorbidities were present in 50.5% of the cases. Secondary bacterial pneumonia developed in 56.9% of the cases. Patients with secondary bacterial pneumonia had higher PICU need, HFNC need and hospital stay (p = 0.014, p ≤ 0.001 and p ≤ 0.001, respectively). Patients with comorbidity had longer hospital stays and a higher need for HFNC (p ≤ 0.001 and p = 0.001, respectively). Conclusions In this study, it was determined that especially comorbidity and secondary bacterial infection aggravated the clinical treatment of hospitalized patients. Therefore, it was concluded that patients with comorbidity should be followed closely and secondary bacterial pneumonia should be recognized and treated early.

Background We investigated the practical use of procalcitonin (PCT), erythrocyte sedimentation rate (ESR), C-reactive protein (CRP) and complete blood count (CBC) parameters in distinguishing periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA) attacks from exudative tonsillitis associated with group A streptococcus (GAS) and Epstein–Barre virus (EBV). Methods The study population consisted of cases with exudative tonsillitis who had been subsequently diagnosed as PFAPA, EBV, and GAS tonsillitis through a period of 6 years. We retrieved the CBC, ESR, CRP and PCT data from patients’ medical records. Results Of the patients, 47 (35.6%) had PFAPA, 36 (27.3%) had GAS and 49 (37.1%) had EBV tonsillitis. Median CRP, ESR and PCT values of patients with PFAPA were 78 (17–92) mg/dl, 44 (11–83) mm/h, 0.16 (0.01–1.45) ng/ml, respectively. The CRP and ESR levels were significantly higher in PFAPA and GAS groups compared with the EBV group (p = 0.001). There was no significant difference between the groups regarding the PCT levels. Conclusion The study indicated no benefit of PCT in distinguishing PFAPA from the others. However, we found that CRP, ESR, and CBC parameters could be useful in identifying PFAPA and GAS than EBV tonsillitis.

Objective:The aim of this study was to investigate the peer victimization and anger expression in adolescents with asthma. The relationship between asthma control and psychological features was also examined. Methods:The study was a cross-sectional study with a healthy control group. The sample of the study was composed of 61 adolescents who were previously diagnosed by a physician with asthma of various intensities. Sixty adolescents with no chronic disorders were enrolled as the control group. Peer victimization was examined using the Multidimensional Peer Victimization Scale (MPVS). The State-Trait Anger Expression Inventory (STAXI) was used to assess anger expression styles. Emotional and behavioral symptoms of the adolescents were measured using the Strengths and Difficulties Questionnaire (SDQ). Results:Adolescents with asthma reported more peer victimization in the subscales of physical, social, verbal, attacks on property, and frightening in the MPVS; and having more problems in emotional, social, and peer relations areas in the SDQ (p < .001 for all subscales) compared to the control group. The results were similar between the groups regarding the conduct problems and hyperactive behaviors. The adolescents with asthma reported more anger repression and less anger expression than the control group (p < .001 for both subscales). Conclusions:The results indicated that the adolescents with asthma were subjected to more peer victimization and experienced more difficulties in anger expression than the controls. Based on the findings of this study, we suggest that these psychological factors should be kept in mind during the management of asthma in adolescents.

This study was designed to investigate the frequency of gastroesophageal reflux disease (GERD) in children with functional constipation (FC). It was structured to assess the improvement level in reflux symptoms by measuring the acid reflux in these patients after they had received FC treatment.Ninety-four children who suffered from constipation were evaluated prospectively. Data forms were completed to assess the GERD symptoms in all the cases. Twenty-four-hour pH meter monitoring was performed in 55 of the patients with GERD symptoms. The cases with abnormal acid reflux were treated by conventional therapy for FC. These cases were re-evaluated for GERD symptoms and weekly defecation frequency, and 24-h pH meter monitoring was performed at the end of a 3-month period.An abnormal level of acid reflux was determined in 23 of the 55 cases. After the constipation treatment, a significant improvement was achieved in the acid reflux index and GERD symptoms, whereas the weekly defecation frequency increased.GERD is a frequent problem in children with FC. Treatment of the constipation can improve the reflux symptoms and abnormal acid reflux in these cases. Physicians should bear in mind the co-occurrence of these two prevalent problems for better disease management.

Personality features have been correlated with suicidal behaviors in recent decades. Given its neurobiological background, Cloninger's model of personality, the Temperament and Character Inventory (TCI), may help to identify the maternal and paternal personality dimensions associated with adolescent suicide attempts. The present study is the first that specifically compares the temperament and character profiles of both mothers and fathers of the adolescent suicide attempters with a control group, by considering the influence of demographic and clinical factors. The study group comprised 117 parents of 71 adolescent suicide attempters and 119 parents of 71 age- and gender-matched adolescents without a suicide attempt included as a control group. The TCI and Brief Symptom Inventory (BSI) were applied to the parents in both groups. Logistic regression analysis, which was performed to adjust confounding factors, demonstrated significantly higher scores for harm avoidance among the mothers and lower scores of self-directedness among the fathers of the adolescent suicide attempters. New psychotherapeutic modalities considering the high-risk parental personality traits would be beneficial to support parent-adolescent relationships and may have a preventative effect on adolescent suicide.

Aim Chest pain is common in adolescence, but there are no established criteria for managing this problem, which is rarely associated with cardiac disease. This study addressed the gaps in the literature by evaluating psychosocial factors that could be associated with medically unexplained chest pain. Methods We consecutively selected 100 patients (68% girls) aged 13-18 who were diagnosed with unexplained chest pain when they presented to the cardiology outpatient clinics of Tepecik Research Hospital, Izmir, Turkey, between 30 September 2015 and 30 June 2018. The controls were 76 age- and sex-matched adolescents (69% girls) aged 13-18 who were undergoing routine cardiology assessments before joining sports clubs. We assessed their health-related quality of life and any depression and physical symptoms. Results Regression analysis showed some adolescents were a number of times more likely to report chest pain. These included those who reported boredom (4.1 times), felt stressed or anxious (2.2) and those who experienced sleep disturbance (2.6), co-morbid headaches (2.0), back pain (3.1) and impaired social functioning (1.2). Conclusion The results indicated a significant association between unexplained chest pain and physical symptoms, depression and impaired emotional and social functioning. These factors warrant further evaluation.

Yetim A, Alikasifoglu M, Bas F, Eliacik K, Cig G, Erginoz E, Ercan O, Bundak R. Glycemic control and health behaviors in adolescents with type 1 diabetes. Turk J Pediatr 2018; 60: 244-254. The purpose of this study was to determine the health/health risk behaviors of a group of Turkish adolescents with type 1 diabetes (T1D) to determine the prevalence and explore the exact effect of these behaviors on glycemic control (GC). A total of 210 adolescents (age 12-20 years; diabetes duration > 6 months; no additional comorbidities), completed a self-administered questionnaire (including some questions from Health Behavior in School-aged Children study questionnaire). Subjects were divided into two groups based on the hemoglobin A1c (HbA1c) levels, measured in the last 3 months: good GC (HbA1c < 8%) and poor GC (HbAc1≥8%). Chi-square tests and backward stepwise logistic regression analysis were used in statistical analyses. Of the patients, 57 had good GC and 153 had poor GC. The results of the backward stepwise logistic regression analysis indicated that being overweight and frequent electronic media use were risk factors for poor GC, whereas computer use for homework for long period of time (≥2 hours/day) was found to be a protective factor in terms of GC. Screening adolescents in terms of health/health risk behaviors such as frequent electronic media use, and giving adolescents health responsibilities should be an integral part of the follow-up of these patients, and intervention programs that lead to behavioral changes should be developed.

The aim of this study is to investigate the relationships between attachment characteristics, alexithymia and problematic internet use (PIU) in adolescents. The study was performed on 444 high school students (66% female and 34% male). Internet Addiction Test (IAT), Toronto Alexithymia Scale (TAS-20) and Short Form of the Inventory of Parent and Peer Attachment (s-IPPA) scales were used. The adolescents who scored ≥50 on IAT were considered as the PIU group and50 were considered as control group. There was a moderate positive relationship between TAS-20 and IAT scores (r = .441), and a moderate negative relationship between TAS-20 and s-IPPA scores (r = -.392), and a negative weak relationship between IAT and s-IPPA scores (r = -.208). S-IPPA scores were significantly lower in the PIU group compared to the controls (p .001). TAS-20 scores of the PIU group were significantly higher compared to the controls (p .05). Logistic regression analysis indicated that s-IPPA scores and TAS-20 significantly predict the PIU development (p .05). The results indicate that alexithymia increases the risk of PIU and higher attachment quality is a protective factor for both alexithymia and PIU. These results suggest that it is important to focus on the insecure attachment patterns and alexithymic characteristics when studying adolescents with PIU.

Chest pain in adolescents is rarely associated with cardiac disease. Adolescents with medically unexplained chest pain usually have high levels of anxiety and depression. Psychological stress may trigger non-cardiac chest pain. This study evaluated risk factors that particularly characterise adolescence, such as major stressful events, in a clinical population. The present study was conducted on 100 adolescents with non-cardiac chest pain and 76 control subjects. Stressful life events were assessed by interviewing patients using a 36-item checklist, along with the Children’s Depression Inventory and Spielberger’s State-Trait Anxiety Inventory for children, in both groups. Certain stressful life events, suicidal thoughts, depression, and anxiety were more commonly observed in adolescents with non-cardiac chest pain compared with the control group. Moreover, binary logistic regression analysis showed that trouble with bullies, school-related problems, and depression may trigger non-cardiac chest pain in adolescents. Non-cardiac chest pain on the surface may point to the underlying psychosocial health problems such as depression, suicidal ideas, or important life events such as academic difficulties or trouble with bullies. The need for a psychosocial evaluation that includes assessment of negative life events and a better management have been discussed in light of the results.

The rapid rise in the global prevalence of obesity suggests that environmental factors may be responsible. The increased use of technology is associated with increased rates of obesity due to declines in physical activity and significant sedentary life style. Internet addiction is also a growing health issue associated with diminished physical activity and poor sleep quality as well as various health problems. The purpose of this study was to determine associations between Internet addiction and adolescent obesity-related problems. In this case–control study, 71 adolescents with obesity were recruited from the outpatient clinic at Tepecik Teaching Hospital and Katip Celebi University Hospital, Department of Pediatric Endocrinology in Izmir, Turkey. The control group consisted of 64 non-obese adolescents that were matched with patients in the study group by age and gender. All subjects completed socio-demographic forms, an Internet addiction scale, the Pediatric Quality of Life Inventory, the Pittsburgh Sleep Quality Index, and the Epworth Sleepiness Scale. Adolescents with obesity were significantly more likely to have Internet addiction (p = 0.002), lower quality of life (p

Objective Mothers of individuals with breath-holding spells (BHS) suffer more often from anxiety and experience more stressors in their everyday life. The purpose of this study was to examine the efficacy of psychoeducational intervention in reducing BHS and coping with these spells. Participants and Methods Mothers who have children with BHS were randomly assigned to one of the two groups: an intervention group receiving psychoeducational therapy in addition to the routine follow-up (n = 31) and a control group who did not receive psychoeducation in their routine follow-up (n = 28). The data collected at the beginning of the study and at the end of 3rd and 6th months about the frequency of the spells per month, maternal anxiety, and depression levels and mothers' perceived self-knowledge about coping BHS of both groups were compared. Results Mothers in psychoeducation group, compared with controls, improved significantly on state anxiety, depression, perceived anticipation anxiety level for BHS of their children and self-knowledge about coping with the spells. Conclusion The intervention program had a positive effect on anxiety-depression levels of the mothers and the frequency of BHS among the children. The possible link between emotional and autonomic dysregulation in children with BHS and maternal mental health were discussed.

Keywords Henoch–Scho¨nlein purpura Terminal ileitis Acute abdomen ChildrenIntroductionHenoch–Scho¨nlein purpura (HSP) is a leukocytoclasticvasculitis characterized by a classic tetrad of nonthromb-ocytopenic palpable purpura, arthritis or arthralgias, andgastrointestinal and renal involvement [1]. HSP most oftenoccurs in children and its incidence between 4 and 6 yearsof age has been reported to be 20.4 cases per 100,000children [2]. Ninety percent of affected individuals are lessthan 10 years of age. Etiology is still obscure but somefactors such as vaccination, some foods, infection, andinsect stings have been thought to play a role in the path-ogenesis of HSP [3, 4].Gastrointestinal system symptoms such as abdominalpain, vomiting, or bleeding are observed in 50–75 % of thepatients [5, 6]. Abdominal pain precedes the rash in12–19 % of cases [6, 7]. Cases of HSP presenting as ter-minal ileitis are rarely encountered in childhood andtherefore this condition makes initial HSP diagnosis diffi-cult. Terminal ileitis has rarely been recognized in patientswith HSP. In the literature, to our knowledge, only nineadult HSP patients have been reported to date [8–11]. Inthis paper, due to its rarity, we present two cases of pedi-atric-onset HSP revealed by gastrointestinal involvement.We also intended to emphasize that the HSP diagnosis canbe more difficult when abdominal pain precedes the cuta-neous rash.Case 1An otherwise healthy 4-year-old boy applied to ouremergency service with complaints of vomiting andabdominal pain over the preceding 4 days. On physicalexamination, the patient was pale and mildly dehydrated.His blood pressure, body temperature, heart rate, andrespiratory rate were 110/60 mmHg, 37.5 C, 94 and26/min, respectively. Abdominal examination revealedtenderness, right lower quadrant pain upon palpation, andrebound tenderness. The rest of his physical examination

WOS: 000398204700002, PubMed ID: 28266187, This study aimed to investigate the effects of celiac disease (CD) on cardiac function in children by using conventional transthoracic echocardiography (TTE) and tissue Doppler echocardiography (TDE). Forty-nine patients diagnosed with CD were enrolled into the study. Group 1 consisted of 26 (53%) patients who had recently been diagnosed and had not been on glutenfree diet whereas Group 2 consisted of 23 (47%) patients who had been on regular gluten-free diet for at least 10 months. 20 healthy children were enrolled into the study as the control group. The deceleration time (DT) and the left ventricle (LV) isovolumetric relaxation time (IVRT) were significantly shorter in Group 1 compared to Group 2 and the control group (p=0.002, p=0.015). Mitral valve E/E' ratio was significantly lower in Group 1 and 2 when compared to the control group (p

This study compares 2 sampling methods for urine cultures in young infants. We analyzed data on urine samples obtained from 83 infants using 2 sources of urine: suprapubic bladder aspiration (SPA) and bladder catheterization. All specimens were subjected to both urinalysis and culture, and the results compared. Eighty-three infants with positive urine culture results obtained by bladder catheterization were subjected to SPA. Of these, only 24 (28.9%) and 20 (24%) yielded positive urine culture and abnormal urinalysis data, respectively. Samples obtained via catheterization had a high false-positive rate (71.1%). The sensitivity and specificity of urinalysis were 66.7% (95% CI, 44.68% to 84.33%) and 93.22% (95% CI, 83.53% to 98.08%), respectively. In infants younger than 12 months, SPA is the best method to avoid bacterial contamination, showing better results than transurethral catheterization.

In this study, we aimed to determine the frequency of red cell allo- and autoimmunization and analyze the factors responsible for the development of antibodies in patients with transfusion-dependent thalassemia. This crosssectional study was conducted on 139 patients with thalassemia major and intermedia who received leukodepleted RBC transfusions on a regular basis. Patients with a positive antibody screen were further tested for antibody identification by a gel method. Red cell alloantibodies were found in 9 (6.4%) patients, and autoantibodies were found in 17 (12.2%) patients. The most common alloantibodies detected were those against Rh and Kell antigen systems. The alloantibody development rate was higher in thalassemia intermedia patients, in Rh(-) patients, in patients with an initial transfusion age2 years and in patients with a transfusion interval3 weeks (p0.05). The autoantibody development rate was found to be higher in adult and splenectomized patients (p0.05). Data from this study demonstrate that the RBC antibody development rate is high in our region. RBC antigen phenotyping and crossmatching with Kell and Rh subgroups may reduce alloimmunization in chronically transfused beta-thalassemia patients.

AIM This study evaluated the clinical and economic outcomes of ventriculoperitoneal shunt infections. MATERIAL AND METHODS Patients diagnosed with ventriculoperitoneal shunt infections for the first time between 1 January 2007 and 31 December 2011 were included in this study. Demographic, clinical, and economic data were analyzed retrospectively. A cost coefficient (total cost/follow-up period) and hospitalization coefficient (duration of hospitalization/follow-up period) were calculated for each patient. RESULTS In total, 132 shunt infections (mean follow-up, 734 ± 367 days) were evaluated in 51 patients (mean age, 16.6 ± 9.22 months; median age, 3 months; range, 1-88 months; 28 females, 21 males). In 23 patients (45%), shunt infections were seen in the first 2 months following shunt placement. Seven patients died during the follow-up. There was a negative correlation between the age at diagnosis and the hospitalization duration (p = 0.005, r = -0.381). The average cost of hospitalization per patient was 6397 ± 4338 TL. There was a negative correlation between the cost index and the age at diagnosis (p = 0.04, r = -0.292). CONCLUSION Ventriculoperitoneal shunt infections have significant medical and economic impacts. Younger the diagnosis of patients, the hospitalization duration and treatment cost were higher.

Ozet– Sol koroner arterin pulmoner arterden koken almasi (ALCAPA) nadir gorulen bir dogustan anomali ve miyokart iskemi nedenlerinden biridir. Bu ozellikle cocukluk doneminde, atipik belirti ve bulgularla gorulur. Bu yazida, son bes yildir klinigimizde dilate kardiyomiyopati tanisiyla izlenen 11 yasinda bir kiz sunuldu. Ekokardiyografisinde interventrikuler septum uzerinde cok sayida sol-sag sant akimi saptandi. Cok kesitli koroner bilgisayarli tomografi ve koroner anijiyografi ile tani dogrulandi. Dilate kardiyomiyopati tanisi ile izlenen genc olgularda ALCAPA’nin ayirici tanida akilda tutulmasi gerektigi vurgulanmak istenmistir. Summary– Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital anomaly and one of the causes of myocardial ischemia. It often presents with atypical signs and symptoms, especially in childhood. In this case report, an 11-year-old girl presented with dilated cardiomyopathy in our clinic and was followed for five years. Echocardiography showed multiple left-to-right shunts on the interventricular septum, the confirmation of which was done by multi-slice computed tomography and coronary angiography. Therefore, we suggest that ALCAPA should be suspected in young patients diagnosed with dilated cardiomyopathy. 448

Özyurt G, Çağan-Appak Y, Karakoyun M, Eliaçık K, Baran M. Father`s role in infantile anorexia. Turk J Pediatr 2018; 60: 608-611. Organic diseases account for only 16-30% of early feeding disorders. During the infancy period, mother-child relationship is in the center of feeding and disturbances in this relationship can also cause feeding disorders. Infantile anorexia (IA) usually begins within the first three years of age, but it has most commonly been observed to emerge between 9 and 18 months of age, a time during which babies transition to spoon and self-feeding. It is also worth noting that babies start to gain autonomy during this time frame. The present study discusses the case of an 8-month-old girl diagnosed with IA after ruling out food allergies, gastro-esophageal reflux disease, malrotation, and neurological problems. The patient was diagnosed with IA was treated with the relational regulation of parents and active participation of her father during the treatment process. It is found that mother-child relational disturbances and conflicts decreased dyadic reciprocity and non-appropriate affects in feeding times are associated with IA. Effective treatment strategies for non-organic feeding disorders might be developed by giving importance to maternal mental health and providing paternal involvement in baby caregiving.

Aim We aimed to investigate the significance of faecal calprotectin (FC) levels in children diagnosed with Henoch-Schonlein purpura (HSP) and examine its relationships with gastrointestinal system (GIS), renal involvement and with clinical findings. Patients and methods In total, 66 children diagnosed with HSP for the first time and a control group of 25 healthy children were included. The cases were divided into mild and severe groups on the basis of GIS findings. FC was measured twice in all patients with HSP: within 3 days of onset of disease (FC1) and on day 15 (FC2). These results were compared with those of the control group. Faecal occult blood, gastric wall thickness and duodenal wall thickness were measured at the same time as FC1 in all patients, and the presence of renal involvement was recorded. Results Of the 66 patients, 37 (56%) were females (mean age, 7.5±2.9 years; range, 2.5-14.5 years) and were diagnosed with HSP. Renal involvement was detected in 19 (28%) cases and GIS involvement was found in 28 (43%) cases. GIS involvement was mild in 16 (53%) cases and severe in 12 (43%). A significant difference was detected in FC1 levels between the groups with and without GIS involvement (P=0.01). A marked difference was observed in FC1 levels between the groups with and without renal involvement (P=0.017). Conclusion FC may be a reliable marker for HSP, particularly for identifying GIS and renal involvement as well as disease severity.

Objectives The aim of this study was to determine whether plasma levels of amino-terminal brain natriuretic peptide (BNP) could differentiate between heart failure and lung disease among infants with acute bronchiolitis. Methods Sixty-eight infants (age range, 1-26 months; median age, 5.9 ± 5.0 months) who presented with respiratory distress underwent physical examination, plasma BNP measurement, and echocardiography within 24 hours after admission. Nineteen (28%) patients had congenital heart disease. The control group was consisted of 30 healthy infants. Results Although mean plasma BNP levels were 118.9 ± 219.5 pg/mL in patients with isolated bronchiolitis (n = 49), it was 841.2 ± 1475.8 pg/mL in patients with congenital heart disease (n = 19). Plasma BNP levels were significantly higher in infants with congenital heart disease ( P = .001). Conclusion It was shown that plasma BNP levels were affected much more in cardiac disease rather than lung disease. Among infants with respiratory distress, plasma BNP measurements can differentiate congenital heart disease and lung disease and can be used to monitor the effects of treatment for infants with heart failure. Response to reviewers The comments were taken for consideration. The patient groups control BNP levels were attached to the results. As it was a clinical study and multiple factors (respiratory score, respiratory rate, treatment, etc) may effect on BNP levels, the tables could not be decreased to 1 table.

Congenital erythropoietic porphyria is a rare autosomal recessive disorder of porphyrin metabolism in which the genetic defect is the deficiency of uroporphyrinogen III cosynthase (UIIIC). Deficiency of this enzyme results in an accumulation of high amounts of uroporphyrin I in all tissues, leading to hemolytic anemia, splenomegaly, erythrodontia, bone fragility, exquisite photosensitivity, and mutilating skin lesions. We discuss a female infantile case who was admitted for jaundice; bullous lesions appeared on her trunk during phototherapy in the neonatal period. The skin biopsy findings were consistent with epidermolysis bullosa. Due to persistent hepatosplenomegaly and cholestasis, metabolic tests and liver biopsy were performed. During the follow-up, hemolytic anemia and red urine were detected. The levels of porphyrin metabolites were determined at high concentrations in plasma, stool and urine analysis, which were suggestive of congenital erythropoietic porphyria.

Oculocerebrorenal syndrome, also known as Lowe syndrome, is an X-linked recessive disorder that predominantly affects males and is characterized by growth and mental retardation, congenital cataract and renal Fanconi syndrome. OCRL1 is the gene responsible for Lowe syndrome and encodes an inositol polyphosphate-5-phosphatase. We present an 11-year-old boy with Lowe syndrome, who had a de novo frameshift mutation in exon 22 that resulted in amino acid substitution and premature codon termination at position 788. This is a new mutation involving the OCRL1 gene in a patient with Lowe syndrome of Turkish origin and expands the mutation spectrum in this disorder.