Parental Attitudes and Knowledge About Lumbar Puncture in Children.

OBJECTIVES: Lumbar puncture (LP) is fundamental for diagnosis and treatment; however, some parents do not provide consent for their children to undergo the procedure, which can make diagnosis and determination of the optimal treatment difficult. The present study aimed to describe the level of knowledge and attitudes toward LP of parents whose children were scheduled to undergo the procedure. METHODS: A prospective cross-sectional descriptive study of a convenience sample of parents of 84 children aged 2 months to 17 years scheduled for LP at a single academic children's hospital between 2015 and 2017. Parents were administered a written survey and interviewed by a physician other than the person who did the LP. Data on parental level of knowledge and attitudes regarding LP, in addition to reasons for refusal, were collected.The parents of 84 patients scheduled for LP due to various indications were administered a face-to-face survey interview. The survey was used to collect parental demographic data, as well as opinions and knowledge about LP and postinterventional complications. RESULTS: The mean age of the 84 patients (57% male and 43% female) was 6.4 ± 5.17 years. Lumbar puncture was planned for the presumptive diagnosis of neurological disease in 45.25% of the patients, central nervous system infection in 45.25%, and acute encephalopathy in 9.5%. Among the parents, 65% (n = 55) had no knowledge or attitude about LP prior to the survey interview. The most common parental concern related to LP was paralysis (25%), followed by infertility (2%), mental retardation (1%), and disease progression (1%). Only 4.7% of the parents did not provide consent for their child to undergo LP. CONCLUSIONS: We found that most parents had little knowledge about LP, and the most common parental concern was paralysis. Despite this, in our study, only 5% of parents did not consent to LP.

Chronic recurrent multifocal osteomyelitis: a case report.

Chronic recurrent multifocal osteomyelitis is a rare autoinflammatory, immunologic disorder. It may involve recurrent inflammatory bone pain associated with aseptic osteomyelitis. If the diagnosis is delayed, it negatively influences quality of life by leading to persistent symptoms or joint damage. Herein, we report a 16-year-old male patient who presented with left hip and right knee pain lasting for the last two months and was diagnosed as having chronic recurrent multifocal osteomyelitis as a result of further evaluation. Improvement was achieved with prednisolone and methotrexate treatment that was initiated when no response to ibuprofen treatment could be obtained. Chronic recurrent multifocal osteomyelitis must be considered in the differential diagnosis in patients presenting with joint symptoms when clinical and radiologic bone lesions are found, no microorganism growth is observed, and no response to antibiotic treatment is obtained.

An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment.

Kasapkara ÇS, Yilmaz-Keskin E, Özbay-Hosnut F, Akçaboy M, Polat E, Olgaç A, Zorlu P. An infant with an extremely rare cobalamin disorder: Methionine synthase deficiency and importance of early diagnosis and treatment. Turk J Pediatr 2019; 61: 282-285. Functional methionine synthase deficiency can be separated into two classes, cobalamin (Cbl) deficiency type E (CblE) and type G (CblG), which are the result of mutations that affect methionine synthase reductase or methionine synthase, respectively. Deficiency of methionine synthase activity may result in megaloblastic anemia without methylmalonic aciduria and neuromuscular abnormality of varying severity. Delayed milestones, ataxia, cerebral atrophy, muscular hypotonia, neonatal seizures, and blindness have been reported as the associated clinical findings. Early diagnosis and treatment are crucial for a more favorable diagnosis of the affected cases. Herein we report a three-month-old boy with CblG disease who presented with failure to thrive, chronic diarrhea, feeding intolerance, oral ulcers, microcephaly and hypotonia, and showed a dramatic response to treatment. In the first few months of life, megaloblastic anemia accompanied by apparent neurological involvement should direct physicians to order examinations like measurement of total homocysteine and methylmalonic acid levels to detect possible forms of inherited Cbl intracellular metabolism disorders.

Kikuchi-Fujimoto disease triggered by Salmonella enteritidis in a child with concurrent auto-immune thyroiditis and papilloedema.

Kikuchi-Fujimoto disease (KFD) is a histiocytic necrotising lymphadenitis characterised by painful cervical lymphadenopathy, fever, malaise and weight loss. Infections, auto-immune pathogenesis and a genetic association have been implicated. A 12-year-old boy presented with a 1-month history of fever, abdominal pain, constipation and weight loss, and a painful lymph node was detected in the right axilla. Chest CT demonstrated multiple lymph nodes, especially in the left mediastinum. Salmonella enteritidis group D was detected in a blood culture and he was treated with ceftriaxone, followed by meropenem. An axillary lymph node biopsy demonstrated necrotising histiocytic lymphadenitis and KFD was diagnosed. He was discharged 35 days after admission. He was re-admitted 3 weeks later with recurrence of symptoms and headache and was found to have papilloedema of the left eye and auto-immune thyroiditis. Intravenous immunoglobulin (IVIG) 400 mg/kg/day was administered for 5 days. The fever and papilloedema slowly resolved and, subsequently, the thyroiditis, and he has remained well on follow-up. This is the first report of an association of S. enteritidis infection and papilloedema with KFD. IVIG may be required in prolonged or recurrent cases and in those with an auto-immune association.

Ranitidine-induced black tongue: A case report.

Black tongue is a rare, benign, self-limiting disorder caused by certain conditions and some medications. We report the first case of a child diagnosed with black tongue associated with ranitidine use. We report our case to emphasize the rare side effect of this frequently used drug. Health care professionals should be aware of the likelihood of ranitidine-induced black tongue in clinical practice.

First manifestation of citrullinemia type I as Sandifer syndrome.

Kiliç M, Altinel-Açoglu E, Zorlu P, Yüksel D, Bülbül S, Haeberle J. First manifestation of citrullinemia type I as Sandifer syndrome. Turk J Pediatr 2017; 59: 696-698. We report an eleven-month-old infant girl who presented as Sandifer syndrome clinically but was later diagnosed with citrullinemia type I. Metabolic evaluation and molecular analysis confirmed the correct diagnosis. Despite the fact that many patients are already known in the literature, this is the first report of a Sandifer syndrome-like presentation of citrullinemia type I. This paper suggests that suspicion of Sandifer syndrome should also lead to inclusion of urea cycle disorders in the list of differential diagnoses.

Effects of cigarette smoking on cortical thickness in major depressive disorder.

Findings of surface-based morphometry studies in major depressive disorder (MDD) are still inconsistent. Given that cigarette smoking is highly prevalent in MDD and has documented negative effects on the brain, it is possible that some of the inconsistencies may be partly explained by cigarette use. The aim of the current study was to examine the influence of cigarette smoking on brain structure in MDD. 50 MDD patients (25 smokers and 25 non-smokers) and 22 age, education, gender and BMI matched non-smoker healthy controls underwent structural magnetic resonance imaging. Thickness and area of the cortex were measured using surface-based morphometry implemented with Freesurfer (v5.3.0). The non-smoker MDD patients had significantly increased cortical thickness, including in the left temporal cortex (p < 0.001), right insular cortex (p = 0.033) and left pre- and postcentral gyrus (p = 0.045), compared to healthy controls. We also found decreased cortical thickness in MDD patients who smoked compared to non-smoking patients in regions that overlapped with the regions found to be increased in non-smoking patients in comparison to controls. Non-smoker MDD patients had increased surface area in the right lateral occipital cortex (p = 0.009). We did not find any region where cortical thickness or surface area significantly differed between controls and either smoker MDD patients or all MDD patients. The findings of the current study suggest that cigarette smoking is associated with cortical thinning in regions found to be increased in patients with MDD. However, these results should be considered preliminary due to methodological limitations.

Systemic Manifestation of Rotavirus Infection in Children: A Report of Three Cases.

INTRODUCTION: Rotavirus is a leading cause of acute gastroenteritis in children. Although the clinical complaints associated with rotavirus are generally gastrointestinal, including vomiting and diarrhea, data suggest that it can also cause symptoms that extend beyond the gastrointestinal tract. CASE PRESENTATIONS: We report three pediatric cases of rotavirus infection: one accompanied by encephalopathy and two with elevated hepatic transaminase activity. The patients were admitted to Dr. Sami Ulus maternity and children's health and diseases training and research hospital, Ankara, Turkey, from 2012 - 2014. The presented patients' aspartate aminotransferase (AST) (1765-2614 IU L-1) and alanine aminotransferase (ALT) (1448-3558 IU L-1) levels are, to date, the highest reported levels associated with rotavirus infections, and suggest that the rotavirus can cause severe hepatic transaminase elevation. CONCLUSIONS: This report aimed to increase awareness of the occurrence of extra-intestinal systemic manifestations of rotavirus infection. Although such cases may be rare, they still suggest that that rotavirus is a systemic viral infection.

Hypoalbuminemia and Malnutrition Associated With Cow's Milk Allergy: A Case Report.

INTRODUCTION: Cow's milk allergy is the most common food allergy in children. Symptoms usually involve the skin and the gastrointestinal and respiratory tracts. Gastrointestinal tract manifestations of cow's milk allergy are nonspecific, and are the only type that can be diagnosed in all age groups. Here, we report a rare case of cow's milk allergy in an infant with hypoalbuminemia and malnutrition. CASE PRESENTATION: A nine-month-old girl was admitted to Dr. Sami Ulus maternity and children's health and diseases training and research hospital, Ankara, Turkey, in September 2013, for weakness and swelling of the legs that had endured for two days. She had bilateral pretibial pitting (+2) edema. Laboratory data revealed albumin at 1.7 g/dL; serum Na, K, urea, creatinin, and alanine-aspartate aminotransferase levels were normal. Her urinary analysis did not reveal proteinuria. Stool samples were normal, and stool steatocrite was negative. Anti-gliadin, anti-endomysium, and anti-tissue transglutaminase antibodies were negative. Cow's milk allergy was diagnosed due to cow's milk-specific IgE and skin prick test results. CONCLUSIONS: On rare occasions, cow's milk allergy presents with hypoalbuminemia. When diagnosis is delayed, this allergy may impair the growth and quality of life and may even be life-threatening.

Vitamin B12 Deficiency in Infants.

OBJECTIVE: To determine different clinical presentations of vitamin B12 deficiency in infants. METHODS: Infants at the age of 1-20 mo admitted to infancy clinic of authors' hospital between January 2011-2013 with various clinical presentations due to vitamin B12 deficiency were included in the study. Hospital records of all the patients were evaluated by means of history, physical, laboratory, imaging examinations and treatment. The diagnosis was based on a nutritional history of mothers and infants, clinical findings, hematological evaluation, and low level of serum vitamin B12. RESULTS: A total of 20 patients with a mean age of 6.65 ± 4.5 mo were included in the study. The weight and height were below the third percentile in four patients. The most common symptoms of the patients were; infections in 30 %, pallor in 25 %, hypotonia and neuro-developmental delay in 25 %, refusal to solid food or to suck in 20 %, failure to thrive in 15 %, fatigue in 10 %. Twenty-five percent of patients had neurologic signs and symptoms. Anemia was found in 16/20 (80 %) patients. Three (15 %) patients had leukopenia, 7 (35 %) had neutropenia, 2 (10 %) patients had thrombocytopenia. All of the mothers had vitamin B12 deficiency. All of the patients were fed with breast milk. Cyanocobalamin was administered to all the patients and mothers. After the treatment, clinical and laboratory findings of all the patients improved. CONCLUSIONS: Vitamin B12 deficiency should be considered in the differential diagnosis of some hematological, neurological, and gastrointestinal disturbances of infants.

Abnormal white matter integrity and impairment of cognitive abilities in adolescent inhalant abusers.

Inhalant abuse represents a major health problem especially among adolescents and young adults. However, less is known about white matter (WM) microstructure in adolescent inhalant abusers. In the present study, we used diffusion tensor imaging (DTI) to study WM changes in adolescent inhalant abusers compared with healthy controls. We also tested whether there was any relationship between WM integrity and neuropsychological measures in adolescent inhalant abusers. The study included 19 adolescent inhalant abusers and 19 healthy control subjects. Whole brain analysis of WM microstructure was performed using tract-based spatial statistics (TBSS) to detect abnormal WM regions between groups. Wisconsin card sorting test (WCST) and Stroop test were used to measure neuropsychological performance. We found that adolescent inhalant abuser group had significantly higher axial diffusivity (AD) values in left parietal, occipital and temporal WM than in healthy control group. Inhalant abuser and control groups did not differ significantly on fractional anisotropy (FA) and radial diffusivity (RD) values. Adolescent inhalant abusers showed worse performance when compared with control group in WCST and Stroop test. There was no significant correlation of AD values in significant clusters with neuropsychological test performances within the two groups. We only found discrete impairments in neuropsychological test performance and WM integrity in adolescent inhalant abusers compared with healthy control subjects and we were not able to demonstrate a direct correlation between WM alterations and neurocognitive performance. Future work is required to longitudinally evaluate brain abnormalities through methods assessing brain structure, function and connectivity.

Abnormal white matter integrity in long-term abstinent alcohol dependent patients.

A number of diffusion tensor imaging (DTI) studies have reported substantial white matter (WM) abnormalities in alcohol-dependent patients. These studies were usually performed in recovering alcohol-dependent patients who had been abstinent for days to several weeks. The current study was designed to examine WM microstructure and decision-making in a sample of long-term abstinent alcohol-dependent patients. The study included 12 subjects with alcohol dependence who had been abstinent for at least 6 months before testing and scanning and 13 healthy control subjects. The Iowa Gambling Task (IGT) was used to measure decision-making. We found that the long-term abstinent alcohol-dependent group had significantly higher radial and axial diffusivity (RD and AD, respectively) values in frontal, temporal and parietal WM than was found in the healthy control group despite showing no difference in fractional anisotropy (FA) values in comparison to controls. In conclusion, we found widespread WM changes in long-term abstinent alcohol-dependent patients compared with healthy controls. Our findings suggested that AD and RD should be included in analyses of DTI data in addition to the more commonly studied FA. In the current study, FA values of the detoxified alcoholics had recovered and were comparable to those of the controls, whereas significant changes in AD and RD were still observed in some clusters in the frontal, parietal and temporal lobes of detoxified alcoholics even after 27.8 months.

Hamartoma of the larynx: an unusual cause of stridor.

BACKGROUND: Hamartoma of the larynx is a very rare lesion, and the number of reported cases is limited. Signs and symptoms include stridor, changes in voice, eating and respiratory complaints. Stridor is a sign of upper airway obstruction. Patients presenting with stridor and severe respiratory distress necessitate urgent otolaryngologic evaluation. CASE REPORT: Herein, we report a case of laryngeal hamartoma presenting with recurrent pneumonia and persistent stridor in a 7-month-old patient. He was admitted to hospital with the initial diagnosis of recurrent pneumonia and persistent stridor. Stridor was not responsive to cool mist, nebulised epinephrine or dexamethasone. Cervical computed tomography (CT) revealed a solid, nodular mass on the posterolateral wall of larynx. The mass was excised surgically. After surgical removal of the hamartoma, the child was relieved of the obstruction. CONCLUSION: We want to emphasise that patients presenting with persistent stridor and severe distress necessitate urgent otolaryngologic evaluation.

Abusive head trauma: report of 3 cases.

Abusive head trauma (AHT) is perpetrated when an infant or young child is shaken violently by an abuser, resulting in injuries to various intracranial structures, historically called "shaken baby syndrome" (SBS). Three cases of AHT with different constellations of clinical symptoms are presented here. Case 1- Three-month-old female infant was admitted with recurrent seizures, drowsiness, and low grade fever. Ophthalmologic examination revealed retinal hemorrhages (RH) in the left eye. Computed tomography of cranium showed left frontal intra-parenchymal subdural hematoma (SDH). Case 2- Twelve-month-old male infant was admitted with a history of favoring left leg. Ophthalmologic examination revealed RH in the right eye. Cranial magnetic resonance imaging (MRI) revealed subacute SDH in the right frontoparietal region. Case 3- Three-month-old male infant was admitted with irritability and seizures. Ophthalmologic examination revealed bilateral disseminated RH. Cranial MRI scan showed bilateral frontoparietal subacute SDH. All cases were reported to Child Protective Services, who decided not to remove children from homes, but evaluated psychosocial risks and developed a safety plan, including home visits and family education. Physicians must be aware of possibility of AHT in infants presenting both subtle and overt neurologic symptoms. It is important to provide training on AHT to staff involved in the management of these cases.

The relationship between pediatric nonalcoholic fatty liver disease and cardiovascular risk factors and increased risk of atherosclerosis in obese children.

To investigate the relationship between nonalcoholic fatty liver disease and cardiovascular risk factors and increased risk of atherosclerosis in obese children. The study included 80 consecutive obese children who were stratified into group 1 [ultrasonographically diagnosed with NAFLD (n = 50)] and group 2 [not diagnosed with NAFLD (n = 30)]. The control group included 30 healthy children. The groups were compared in terms of clinical cardiovascular risk factors and carotid intimal medial thickness (CIMT) (as a marker of atherosclerosis) measured using B-mode ultrasound. Mean body mass index (BMI) and blood pressure (BP), as well as the frequency of dyslipidemia, metabolic syndrome (MetS), and insulin resistance (IR), were similar in groups 1 and 2. Mean BMI and triglyceride (TG) levels, and the frequency of IR and MetS, increased significantly as the grade of steatosis increased. Mean CIMT in group 1 was significantly greater than that in the control group (P < 0.01). There was a positive correlation between CIMT and age, BP, and BMI in groups 1 and 2. In addition, CIMT was correlated with TG, low high-density lipoprotein (HDL) cholesterol, MetS, and IR only in group 1. Linear regression analysis between CIMT and age, BP, BMI, TG level, HDL cholesterol level, IR, MetS, and grade of steatosis yielded a significant difference only for grade of steatosis. Cardiovascular risk factors are more impressive and CIMT was significantly higher in group 1 than in group 2 and the control group, indicating that they are associated with greater risk of atherosclerosis and future adverse cardiovascular events.