Biomedical subjects
Tamer Gunes
Publications and source records attributed to Tamer Gunes.
Arrhythmogenic right ventricular cardiomyopathy (Naxos disease): report of a Turkish boy.
Naxos disease is a recessively inherited arrhythmogenic right ventricular cardiomyopathy in which the cardiac phenotype is associated with palmoplantar keratoderma and woolly hair. This disease is a heart muscle disorder causing life-threatening ventricular arrhythmias, heart failure, and sudden cardiac death. The pathological hallmark of the disease is the progressive replacement of myocardial cells by fat and fibrous tissue. It appears in families descending from the Hellenic island of Naxos. We presented a 13-year-old Turkish boy with Naxos disease associated with ventricular tachycardia because of its rarity, and reviewed the literature.
Werdnig-Hoffmann disease with congenital hypothyroidism.
Congenital hypothyroidism is often associated with other congenital anomalies. In some instances it is difficult to differentiate congenital hypothyroidism from Werdnig-Hoffmann's disease. We report a case of congenital hypothyroidism associated with Werdnig-Hoffmann's disease that appears to be the first of its kind in the literature.
Congenital hypothyroidism associated with Rubinstein-Taybi syndrome.
Rubinstein-Taybi syndrome is a genetic syndrome characterized by broad thumbs and big toes, growth retardation, mental deficiency and dysmorphic facies. We report the association of Rubinstien-Taybi syndrome with congenital hypothyroidism.
Transient proteinuria in an infant born to a mother with HELLP syndrome.
UNLABELLED: The syndrome of haemolysis, elevated liver enzymes and low platelet count (HELLP syndrome) is a severe form of pre-eclampsia and eclampsia associated with poor maternal and neonatal outcome. We report here the case of an infant born to a mother with HELLP syndrome. The infant was initially diagnosed as having nephrotic syndrome but after a follow-up period of 25 days proteinuria and oedema had disappeared. CONCLUSION: to our knowledge, transient proteinuria with maternal HELLP syndrome has not been previously described in the literature.
TRMA syndrome (thiamine-responsive megaloblastic anemia): a case report and review of the literature.
Thiamine-responsive megaloblastic anemia syndrome (TRMA) is an autosomal recessive disorder with features that include megaloblastic anemia, mild thrombocytopenia and leukopenia, sensorineural deafness and diabetes mellitus. In this disease, the active thiamine uptake into cells is disturbed. Treatment with pharmacological doses of thiamine ameliorates the megaloblastic anemia and diabetes mellitus. Previous studies have demonstrated that the disease is caused by mutations in the SLC19A2 gene encoding a high-affinity thiamine transporter. We present a 5-yr-old-boy with TRMA and, because of its rarity, we review the literature.
Congenital neuroblastoma with cutaneous metastases.
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Collodion baby associated with asymmetric crying facies: a case report.
Collodion baby is a distinct subset of neonatal erythroderma that can be a clinical marker for a variety of underlying abnormalities. The phenotype includes parchment-like hyperkeratosis, pseudocontractures, ectropion, eclabium, absence of eyebrows, and sparse hair. Asymmetric crying facies is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle. Associations of this facial defect with major congenital anomalies have been reported, most commonly in the cardiovascular system, less frequently involving the genitourinary, musculoskeletal, cervicofacial, and respiratory systems, and rarely the endocrine system. We report a newborn with a collodion membrane and asymmetric crying facies. To the best of our knowledge, this association has not been previously published.
Harlequin baby with ecthyma gangrenosum.
Pseudomonas aeruginosa bacteremia or sepsis often occurs in hospitals, affecting mainly children with underlying disease. Ecthyma gangrenosum is classically considered a pathognomonic sign of sepsis by P. aeruginosa. The harlequin baby, a severe variant of ichthyosis, occurs rarely, and these infants are at high risk of cutaneous infections and sepsis. We herein report a harlequin baby who developed ecthyma gangrenosum.