Turk Pediatr Arsivi
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Turk Pediatr Arsivi · Jun 2018
Case ReportsA rare cause of sudden cardiac arrest: Catecholaminergic polymorphic ventricular tachycardia.
Catecholaminergic polymorphic ventricular tachycardia is a rhythm disorder that develops due to genetic reasons in the absence of structural cardiac abnormalities. Ventricular tachycardia, ventricular fibrillation, cardiac arrest, and death may occur. Two-year-old patient presented to the Emergency Department with sudden cardiac arrest. ⋯ Gly3037Asp)) in exon 64 of the RYR2 gene, which is compatible with catecholaminergic polymorphic ventricular tachycardia. This mutation has been reported in the literature for the first time. This case is presented with the purpose of highlighting catecholaminergic polymorphic ventricular tachycardia.
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Turk Pediatr Arsivi · Dec 2017
Case ReportsA case of Donohue syndrome "Leprechaunism" with a novel mutation in the insulin receptor gene.
Donohue syndrome (Leprechaunism) is characterized by severe insulin resistance, hyperinsulinemia, postprandial hyperglycemia, preprandial hypoglycemia, intrauterine and postnatal growth retardation, dysmorphic findings, and clinical and laboratory findings of hyperandrogenemia due to homozygous or compound heterozygous inactivating mutations in the insulin receptor gene. A female newborn presented with lack of subcutaneous fat tissue, bilateral simian creases, hypertrichosis, especially on her face, gingival hypertrophy, cliteromegaly, and prominent nipples. Her laboratory tests revealed hyperandrogenism, postprandial hyperglycemia and preprandial hypoglycemia, and very high concurrent insulin levels. ⋯ One of these mutations was a p. R813 (c.2437C>T) mutation, which was defined previously and shown also in her father, the other mutation was a novel p.777-790delVAAFPNTSSTSVPT mutation, also shown in her mother. The parents were heterozygous for these mutations.
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Turk Pediatr Arsivi · Sep 2016
Evaluation of the patients diagnosed with Stevens Johnson syndrome and toxic epidermal necrolysis: a single center experience.
Stevens Johnson syndrome and toxic epidermal necrolysis are severe acute mucocutaneous diseases. In this study, we evaluated the clinical aspects of Steven Johnson syndrome, toxic epidermal necrolysis and Stevens-Johnson syndrome/toxic epidermal necrolysis overlap patients who admitted to our clinics in the last five years. ⋯ Anticonvulsants, antibiotics and non steroid anti-inflammatory drugs play a major role in the etiology of Stevens-Johnson syndrome and toxic epidermal necrolysis. Anticonvulsants are associated with severe disease. The patients with proper wound care and treatment with immunosuppressive drugs can be recovered without or with minimal sequelae.
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Turk Pediatr Arsivi · Mar 2016
ReviewUpdate on diagnosis of acute rheumatic fever: 2015 Jones criteria.
In the final Jones criteria, different diagnostic criteria were established for the diagnosis of acute rheumatic fever for low risk and moderate-high risk populations. Turkey was found to be compatible with moderate-high risk populations as a result of regional screenings performed in terms of acute rheumatic fever and rheumatic heart disease. The changes in the diagnostic criteria for low-risk populations include subclinical carditis found on echocardiogram as a major criterion in addition to carditis found clinically and a body temperature of 38.5°C and above as a minor criterion. ⋯ In the final Jones criteria, it has been recommended that patients who do not fully meet the diagnostic criteria of acute rheumatic fever should be treated as acute rheumatic fever if another diagnosis is not considered and should be followed up with benzathine penicilin prophylaxis for 12 months. It has been decided that these patients be evaluated 12 months later and a decision for continuation or discontinuation of prophylaxis should be made. In countries where the disease is prevalent, it is very important for physicians to make an accurate diagnosis of acute rheumatic fever with their own logic and assessment in addition to the criteria proposed.
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Turk Pediatr Arsivi · Dec 2015
Percutaneous endoscopic gastrostomy in children: a single center experience.
The aim of this study was to evaluate the demographic data and complication rates in children who had undergone percutaneous endoscopic gastrostomy in a three-year period in our Division of Pediatric Gastroenterology and to interrogate parental satisfaction. ⋯ Percutaneous endoscopic gastrostomy is a substantially successful and reliable method in infants as well as in children and adolescents. The parents had positive views related with percutaneous endoscopic gastrostomy after the procedure.