Investigation of the presence of atopy in children visiting the paediatric cardiology department due to chest pain.

BACKGROUND: The cases of chest pain in children are usually not of cardiac origin. OBJECTIVES: To investigate asthma and other atopic diseases in children with chest pain not of cardiac origin. PATIENTS AND METHODS: Children aged 6-18 years who were seen for chest pain were included in the study. Haematologic parameters, pulmonary function tests, and skin prick tests were performed. Atopic diseases and environmental factors were investigated. RESULTS: The non-cardiac chest pain group (Group 1) included 88 children (female: 53.4%) with a mean age of 11.9 ± 3.4 years; the control group (Group 2) included 29 children (female: 53.8%) with a mean age of 11.4±2 years (p > 0.05). A family history of atopy (22.7%) and skin prick test positivity (28.4%) was more common in Group 1 than Group 2 (p = 0.006 and p = 0.017, respectively). The rate of presence of all environmental factors except stove use and mould was significantly higher in Group 1 (54.5%) than Group 2 (3.4%) (p < 0.001). Asthma was diagnosed in 44.3% and allergic rhinitis in 9.1% of patients in Group 1. Idiopathic chest pain, musculoskeletal system disorders, gastroesophageal reflux, and pneumonia were identified in 23.9%, 11.4%, 8%, and 3.4% of patients in Group 1, respectively. CONCLUSIONS: In this study, the most common cause of non-cardiac chest pain was asthma. The local prevalence of asthma is higher than normal, and this may have affected the results of this study. A detailed history and physical examination will accurately establish the cause of chest pain in most children.

PHACE Syndrome in a Child with Structural Malformations of the Brain.

PHACE syndrome is an acronym that describes a neurocutaneous condition, consisting of posterior fossa malformations that coexist with large facial hemangiomas, eye anomalies, and cardiac/aortic defects. The prognosis of the disease has not been clearly identified. There appears to be a risk of stroke in children with arterial anomalies. Radiological examinations play a considerable role in determining the degree of intracranial, cardiac involvement and the probable complications. In this article, we reported a 4-month-old boy with PHACE syndrome that has been diagnosed through a large segmental infantile hemangioma involving the eye and over the left half of the face in brain magnetic resonance imaging and magnetic resonance angiography findings. One month after starting propranolol therapy, there was a noticeable reduction in the size of the lesions. Almost complete resolution of the hemangioma was seen after a 6 months of propranolol therapy.

A successful treatment with intravenous lipid emulsion therapy in a child with verapamil poisoning.

In recent years, intravenous lipid emulsion therapy (ILE) was used for lipophilic drug intoxications, and successful results were obtained. In the literature, there is a small number of reported cases about verapamil intoxication and ILE therapy in the pediatric age group. We used ILE therapy in a 14-year-old girl with verapamil intoxication in the 2nd h of the pediatric intensive care unit stay, before using traditional treatments such as glucagon and hyperinsulinemic euglycemia. She had resistant bradycardia and hypotension which was unresponsive to inotropic agents and a successful result was obtained after using ILE treatment. We believe our report may contribute to the early use of ILE therapy for toxicity with calcium channel blockers such as verapamil in pediatric patients.

Mild congenital myopathy due to a novel variation in SPEG gene.

Centronuclear myopathies (CNMs) are a subgroup of congenital myopathies (CMs) characterized by muscle weakness, genetic heterogeneity, and predominant type 1 fibers and increased central nuclei in muscle biopsy. Mutations in CNM-causing genes such as MTM1, DNM2, BIN1, RYR1, CACNA1S, TTN, and extraordinary rarely SPEG (striated muscle preferentially expressed protein kinase) have been identified for about 60-80% of patients. Herein, we report a case of CM due to a novel variation in the SPEG gene, manifested by mild neonatal hypotonia, muscle weakness, delayed motor milestones, and ophthalmoplegia, without dilated cardiomyopathy. We identified a novel variation [c.153C>T (p.Asn51=) in exon 1] in the SPEG gene with whole-exome sequencing and confirmed by Sanger sequencing. Mild intellectual disability has not been associated with SPEG-related CM in the previous reports. We suggest that this report expands the phenotypic spectrum of SPEG-related CM, and further case reports are required to expand the genotype-phenotype correlations.

A homozygous mutation in the POMT2 gene in four siblings with limb-girdle muscular dystrophy 2N.

Mutations in protein O-mannosyltransferase 2 can cause a wide spectrum of clinical phenotypes from severe congenital muscular dystrophy such as Walker-Warburg syndrome to milder limb-girdle muscular dystrophy 2N. We aimed to describe the clinical and paraclinical features, laboratory tests, and molecular findings of four siblings with a homozygous mutation in the protein O-mannosyltransferase 2 gene. There were two sisters and two brothers, aged 4 to 17 years, with an age of onset symptoms at 3 to 12 years. The main neurologic findings were mild intellectual disability, hypoactive deep tendon reflexes, symmetrical weakness of the proximal lower and/or upper limbs, and difficulties in walking on heels and/or toes. The scoliosis found in two siblings has not been associated with protein O-mannosyltransferase 2 gene mutations related to limb-girdle muscular dystrophy 2N in previous reports. This report expands the phenotypic spectrum of protein O-mannosyltransferase 2 gene mutation-related limb-girdle muscular dystrophy 2N.

The Psychopathology, Depression, and Anxiety Levels of Children and Adolescents With Vasovagal Syncope: A Case-Control Study.

ABSTRACT: Vasovagal syncope constitutes 61% to 80% of syncope cases in the pediatric age group. Syncope is frequently associated with psychopathologies such as depressive disorders, anxiety disorders, somatization disorders, etc. Our study aims to evaluate vasovagal syncope cases in terms of additional psychopathologies, depression, and anxiety levels with a control group. A total of 97 people were included in the study (47 cases and 50 controls). After conducting a cardiological examination, the participants were evaluated for psychopathologies using Kiddie-Sads-Present and Lifetime Version, Child Depression Inventory, and Screen for Child Anxiety Related Emotional Disorders. The case group had a higher rate of psychopathology compared with the control group. Depression, social anxiety disorder, generalized anxiety disorder, separation anxiety, and conversion disorder were significantly higher in the case group than in the control group. Syncope in children can be an underlying psychopathology or the clinical manifestation of a psychosomatic condition. Psychological assessment, which could offer beneficial contributions to the diagnosis and treatment of syncope, was considered necessary for a holistic evaluation of patients.

What is the safe approach for neonatal hypernatremic dehydration? A retrospective study from a neonatal intensive care unit.

OBJECTIVES: The aims of this study were to evaluate the prevalence, complications, and mortality of hypernatremic dehydration in neonates and to compare the effect of correction rate at 48 hours on mortality and on neurological outcome in the short term. METHODS: This retrospective study was conducted between January 2007 and 2011 in the neonatal intensive care unit. Term neonates were included. The patients were grouped as follows: group 1 = 150 to 160 mmol/L, group 2 = 161 to 170 mmol/L and group 3 = 171 to 189 mmol/L. RESULTS: Among 4280 neonates, 81 cases (1.8%) had hypernatremic dehydration. Groups 1, 2, and 3 consisted of 55, 23, and 3 patients, respectively. Mortality rates were as follows: 3.6%, 17.3%, and 66.6%. Mean serum sodium (Na) correction rates at 0 to 24 hours and 24 to 48 hours were 0.48 ± 0.2 versus 0.38 ± 0.31 mmol/L per hour (group 1) and 0.49 ± 0.21 versus 0.52 ± 0.28 mmol/L per hour (group 2), respectively. In 32 patients (58.1%) from group 1 and in 13 patients (56.5%) from group 2, correction rate of 0.5 mmol/L per hour or less was achieved. Twenty-two patients developed convulsions, which was the most common complication during therapy. Serum Na greater than 160 mmol/L at admission (odds ratio, 1.9; 95% confidence interval, 1.3-3.7) and serum Na correction rate of greater than 0.5 mmol/L per hour (odds ratio, 4.3; 95% confidence interval, 1.2-6.5) were independent risk factors for death or convulsion. There was a significant difference between groups 1 and 2 in Denver Developmental Screening Test II results (64.1% vs 30.7 %, P = 0.001). CONCLUSION: Hypernatremic dehydration is an important problem that should be managed properly to avoid adverse outcomes.