Neurofibromatosis Type 1 and Vitamin B12.

The aim of this study was to evaluate vitamin B12 levels in the patients diagnosed with neurofibromatosis type 1 (NF1) and to compare them with a healthy group. In this study, the files of the patients, who were admitted to the pediatric neurology outpatient clinic of a tertiary university hospital and were followed up after being diagnosed with neurofibromatosis type 1 during the 15-month period, were evaluated retrospectively (Study group). Demographic data, and laboratory test results (complete blood count, iron, iron-binding capacity, ferritin, vitamin B12 and folate) were recorded from the patient files. The cases admitted to the hospital for routine child health examination in the same period were taken as the control group. Vitamin B12 levels were statistically significantly lower in the study group compared to the control group (p=0.012). This study is the first study evaluating vitamin B12 levels in NF1 patients. Key Words: Neurofibromatosis type 1, Neurofibromin, Nutrition, Vitamin B12.

Rare Giant Angiokeratoma of the Vulva: A Case Report.

BACKGROUND: Angiokeratoma of fordyce occurring over on the vulva is a rare condition. Fordyce angiokeratoma is observed more frequently among men than women. In women, it is generally observed in later life, and appears as multiple dark purple papules, measuring 2-4 mm, on the vulva. CASE REPORT: We present the case of a 17-year-old white teenage girl with giant Fordyce angiokeratoma on the right vulva. The angiokeratoma was removed and a V-Y advancement flap was made. CONCLUSION: In the literature, this is the first childhood case reported in which a reconstruction of the vulva was performed.

Risk Factors Related to Caregivers in Hospitalized Children's Falls.

PURPOSE: This study aimed to evaluate the risk factors for falls in hospitalized children in relation to their caregivers. METHODS: This was a case control study to evaluate the risk factors for falls in hospitalized children in relation to their caregivers. The children included in our study were at the hospital between June 2014 and June 2015. Demographic data of patients, caregivers, some habits; education level; and number of siblings were recorded. RESULTS: The data of 117 patients were evaluated, and there were 39 patients with a fall event and 78 patients who did not experience a fall. The mean age for the fall group and the non-fall group were 14.71±9.36 and 15.62±10.65months, respectively. The mean age for the caregivers of the fall group and the non-fall group were 29.33±5.89 and 29.53±5.56years, respectively. There was a statistically significant difference in fall risk related to the caregivers' education level (p<0.01) and caregivers' habit of smoking (p<0.01). The analysis of risk factors related to caregivers for pediatric inpatient falls, by multivariate logistic regression, showed that low educational level of caregivers (OR=0.361; CI=0.196-0.665; p<0.01), caregivers' smoking (OR=4.863; CI=1.058-22.358; p<0.05) and increased length of stay for the children (OR=1.994; CI=1.475-2.696; p<0.01) carried a higher risk for pediatric inpatient falls. CONCLUSIONS AND PRACTICE IMPLICATIONS: The data obtained in our study have shown that caregivers play a key role in fall events in hospitalized children. Nurses and other health workers should consider children's caregivers educational level and habits for prevention of hospitalized children falls.

Evaluation of Choroidal Thickness in Children With Iron Deficiency Anemia.

PURPOSE: The purpose of this study was to determine whether there are differences in choroidal thickness in children with iron deficiency anemia (IDA). METHODS: Fifty-two patients with IDA and 54 healthy children between 3 and 16 years of age were enrolled in this study. After complete eye examinations were conducted for each participant, the choroidal thickness was measured using optical coherence tomography. Correlations between the choroidal thickness and clinical and laboratory parameters were also evaluated. RESULTS: There were no statistically significant differences between the two groups in terms of visual acuity, intraocular pressure, central corneal thickness, or axial length (P > 0.05). The choroidal thicknesses at the foveal center were 303.13 ± 27.14 µm in the IDA patients and 333.67 ± 39.77 µm in the healthy control children (P < 0.001); additionally, the choroidal thicknesses at each point within the horizontal nasal and temporal quadrants were thinner in the IDA group. There were positive correlations between the choroidal thickness and hemoglobin (r = 0.337; P < 0.001), mean corpuscular volume (r = 0.305; P = 0.001), iron (r = 0.264; P = 0.006), and ferritin (r = 0.287; P = 0.003) levels; however, there were no correlations between the clinical or ocular characteristics and the choroidal thickness. CONCLUSIONS: The patients with IDA had significantly thinner choroidal thicknesses than those of the healthy children. Choroidal thinning in childhood may be an early sign of deterioration in the ocular blood circulation, without any risk of atherosclerosis in advanced age in the patients with IDA.

Congenital epidermoid cyst results in muscle fusion defect in the upper lip.

Epidermoid cysts are rarely detected malformations in the oral cavity. Their development sites are the sublingual, submaxillary, and submandibular spaces. In this paper, we report a three-month-old infant who was admitted to our hospital due upper lip swelling. Magnetic resonance imaging showed that she had a two-centimeter cystic lesion and fusion defects of orbicularis oris muscle. The cyst was surgically removed and histopathological diagnosis was "epidermoid cyst." In recent literature, we could not find reports related to orbicularis oris muscle fusion defects because of epidermoid cyst.

Diagnosis of chromosomal abnormalities in a patient with thanatophoric dysplasia (TD) type I: The first report describing an important association between cytogenetic findings and TD.

BACKGROUND: Thanatophoric dysplasia (TD) is the most lethal and most severe type of dysplasia. It has distinct features, the most important of which is short tubular bones and short ribs with platyspondyly, allowing a precise radiologic and prenatal ultrasonographic diagnosis. It has been reported to be caused by mutations in the FGFR3 gene, but exactly how cytogenetic abnormalities might lead to TD is unclear. CASE REPORT: We report a case of TD with different prenatal sonographic features compatible with the classification of type I. In the result of cytogenetic examination, we found de novo CAs in 28% of cells analyzed from the affected infant; 75% of the abnormalities were numerical, and of those, 25% were structural aberrations; 21% of cells revealed predominantly numerical aberrations. Monosomy 18, 21 and 22 was observed in 4% of cells, monosomy 20 in 2%, and monosomy 7, 8, 14, 17 and 19 in 1%. Structural changes were observed in 7% of cells. CONCLUSIONS: It appears that these chromosomes may be preferentially involved in and important for TD development.

Ecthyma gangrenosum in a previously healthy pediatric patient and associated facial paralysis and persistent hyperplastic primary vitreous.

BACKGROUND: Ecthyma gangrenosum is an infective lesion of the skin and mucosal membranes. It is most commonly caused by Pseudomonas aeruginosa, and the most important risk factors are malignancy and neutropenia. However, it has rarely been reported in children who were previously healthy. Persistent hyperplastic primary vitreous has been described as the persistence of the fetal hyaloid vascular system. Acute otitis media with facial paralysis is an infrequent association. CASE REPORT: We report the case of a 5-month-old boy hospitalized because of fever, otorrhea and necrosis on his body. He had peripheral facial paralysis on the same side as otorrhea. Leukocoria was determined in the right eye. He had many gangrenous ulcers on the extremities and body. CONCLUSIONS: We present a previously healthy pediatric patient diagnosed with persistent hyperplastic primary vitreous, ecthyma gangrenosum (by the septicemia of P. aeruginosa), and peripheric facial paralysis (a complication of acute otitis media), admitted to hospital.

Clinical and epidemiological features of Turkish children with 2009 pandemic influenza A (H1N1) infection: experience from multiple tertiary paediatric centres in Turkey.

BACKGROUND: In April 2009 a novel strain of human influenza A, identified as H1N1 virus, rapidly spread worldwide, and in early June 2009 the World Health Organization raised the pandemic alert level to phase 6. Herein we present the largest series of children who were hospitalized due to pandemic H1N1 infection in Turkey. METHODS: We conducted a retrospective multicentre analysis of case records involving children hospitalized with influenza-like illness, in whom 2009 H1N1 influenza was diagnosed by reverse-transcriptase polymerase chain reaction assay, at 17 different tertiary hospitals. RESULTS: A total of 821 children with 2009 pandemic H1N1 were hospitalized. The majority of admitted children (56.9%) were younger than 5 y of age. Three hundred and seventy-six children (45.8%) had 1 or more pre-existing conditions. Respiratory complications including wheezing, pneumonia, pneumothorax, pneumomediastinum, and hypoxemia were seen in 272 (33.2%) children. Ninety of the patients (11.0%) were admitted or transferred to the paediatric intensive care units (PICU) and 52 (6.3%) received mechanical ventilation. Thirty-five children (4.3%) died. The mortality rate did not differ between age groups. Of the patients who died, 25.7% were healthy before the H1N1 virus infection. However, the death rate was significantly higher in patients with malignancy, chronic neurological disease, immunosuppressive therapy, at least 1 pre-existing condition, and respiratory complications. The most common causes of mortality were pneumonia and sepsis. CONCLUSIONS: In Turkey, 2009 H1N1 infection caused high mortality and PICU admission due to severe respiratory illness and complications, especially in children with an underlying condition.