Mustafa Taskesen

Clinical and Cranial Magnetic Resonance Imaging (MRI) Findings of 21 Patients With Serious Hyperbilirubinemia

This study aims to compare neurological examination and cranial magnetic resonance imaging (MRI) findings in patients with serious hyperbilirubinemia. Twenty-one serious hyperbiluribinemic term neonates (6 girls, 15 boys) who underwent exchange transfusions were included in the study. Neurological examination findings, body weight, age at admission, blood culture, urine culture, urine analysis, C-reactive protein, thyroxine, thyroid-stimulating hormone, total and indirect bilirubin levels, causes of hyperbilirubinemia (blood group typing, glucose-6-phosphate dehydrogenase, blood smear, tandem mass), treatment and duration of follow-up, auditory test results, and cranial MRI findings were evaluated. All patients were term neonates with an average body weight of 2943 ± 533 g. The mean age at admission was 4.47 ± 2.22 days, and the mean bilirubin level was 35.0 ± 10.8 mg/dL. Exchange transfusion was performed once in all, except 4 patients who needed 2 transfusions. Kernicterus findings were found in 76% of patients on neurological examination, and cranial MRI detected a pathological finding in 71% of patients. In 2 patients, cranial MRI showed kernicterus findings, despite normal neurological examination. In contrast, in 3 patients, despite kernicterus findings in neurological examination, cranial MRI was normal. Although cranial MRI has an important place in the diagnosis of kernicterus, it does not always correlate with clinical findings. We believe that studies with larger series are warranted.

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.

Correction to: Journal of Human Genetics (2015) 60, 1–9; doi:10.1038/jhg.2014.85; published online 9 October 2014 Since the advance online publication of this article, the authors of the above paper have noticed errors in the list of authors and affiliations. Article with correct authors informationnow appears in this issue.

Novel Alu retrotransposon insertion leading to Alström syndrome.

Alström syndrome is a clinically complex disorder characterized by childhood retinal degeneration leading to blindness, sensorineural hearing loss, obesity, type 2 diabetes mellitus, cardiomyopathy, systemic fibrosis, and pulmonary, hepatic, and renal failure. Alström syndrome is caused by recessively inherited mutations in the ALMS1 gene, which codes for a putative ciliary protein. Alström syndrome is characterized by extensive allelic heterogeneity, however, founder effects have been observed in some populations. To date, more than 100 causative ALMS1 mutations have been identified, mostly frameshift and non-sense alterations resulting in termination signals in ALMS1. Here, we report a complex Turkish kindred in which sequence analysis uncovered an insertion of a novel 333 basepair Alu Ya5 SINE retrotransposon in the ALMS1 coding sequence, a previously unrecognized mechanism underlying the mutations causing Alström syndrome. It is extraordinarily rare to encounter the insertion of an Alu retrotransposon in the coding sequence of a gene. The high frequency of the mutant ALMS1 allele in this isolated population suggests that this recent retrotransposition event spreads quickly, and may be used as a model to study the population dynamics of deleterious alleles in isolated communities.

A Rare Cause of Poisoning in Childhood: Yellow Phosphorus

BACKGROUND Yellow phosphorus poisoning is rare, but when it occurs, it may result in pathological changes in almost all organs of the body, especially the liver, heart, kidney, spleen, and brain, and it has a significant mortality rate. OBJECTIVES This report presents two cases of poisoning by yellow phosphorus in children. Yellow phosphorus ingestion rarely has been reported among the pediatric population. CASE REPORT This report presents two cases of yellow phosphorus poisoning in children. The patients were admitted with upper abdominal pain, vomiting, lethargy, and respiratory distress. Laboratory testing revealed hepatotoxicity and coagulation disorder. Yellow phosphorus poisoning was treated with conservative therapy in both patients, and one patient died. CONCLUSION Yellow phosphorus poisoning is a rare clinical entity and should be considered a dangerous toxic ingestion in children.

Cranial magnetic resonance imaging findings of nutritional vitamin B12 deficiency in 15 hypotonic infants.

BACKGROUND Nutritional vitamin B(12) deficieny is common among infants in the developing and underdeveloped countries. There is limited information concerning neuroimaging findings in infants with vitamin B(12) deficiency in the literature. AIMS The aim of this study is to evaluate the cranial magnetic resonance imaging (MRI) changes and clinical characteristics of hypotonic infants due to vitamin B(12) deficiency. MATERIALS AND METHODS A total of 15 infants with neuroradiologic investigations were diagnosed with nutritional B(12) vitamin deficiency. Cranial MRI was performed on all infants. RESULTS Five infants were female (33%) and the mean age of infants was 12.3 ± 5.5 months. Hypotonia and neurodevelopmental retardation were present in all patients. MRI demonstrated thinning of the corpus callosum in 6 (40%), cortical atrophy in 5 (33.3%), large sylvian fissures in 5 (33.3%), ventricular dilatation in 3 (20%), asymetric large lateral ventricle in 2 (13.3%) and delayed in myelination in 2 (13.3%) patients. Four infants had normal MRI findings. CONCLUSION Because of the importance of vitamin B(12) in the development of the brain, MRI findings may be detected and useful in infants with vitamin B(12) deficiency.

Role and Clinical Significance of Plasma N-Terminal Brain Natriuretic Peptide Measurement in Children with Brain Edema.

OBJECTIVE Brain natriuretic peptide (BNP) is a potent natriuretic and vasodilator factor. BNP plasma concentrations were found to be elevated in patients with brain edema. The purpose of the present study is to evaluate the relationship between plasma NT-proBNP concentration and the presence of brain edema in patients with intracranial pathology. MATERIALS AND METHODS The plasma NT-proBNP levels of 50 patients and 25 healthy subjects were measured. The NT-proBNP levels of the patient group were measured during admission and after 7 days of treatment. RESULTS NT-proBNP plasma concentrations were found to be significantly higher in the patient group with brain edema than in the control group (p < 0.005). There were no significant differences in the NT-proBNP plasma concentrations between patients with intracranial pathology without brain edema and the control group (p > 0.005). NT-proBNP plasma concentrations were found to be significantly higher in patients with brain edema as compared with patients without brain edema before treatment (p < 0.005). CONCLUSION These results suggest that excessive secretion of plasma NT-proBNP is related to brain edema. Plasma NT-proBNP levels may serve as a marker to guide the early-diagnostic and therapeutic management in children with brain edema. Further studies are required to evaluate the role of BNP in brain edema pathophysiology.

Naloxone use in a newborn with apnea due to tetrahydrozoline intoxication.

Tetrahydrozoline is an imidazoline compound found in over-thecounter eye drop solutions and nasal decongestants. The ingestion of even small doses of topical imidazolines can lead to significant morbidity. It may cause lethargy, hypotension, bradycardia, respiratory depression and coma. In the present report we describe the first newborn case of symptomatic tetrahydrozoline ingestion in which the clinical signs and symptoms were reversed with naloxone.

An Unusual Cause of Gastrointestinal Bleeding and Severe Anemia in a Child: Leech Infestation

A 1-year-old boy with epistaxis, gastrointestinal bleeding and severe anemia that caused cardiorespiratory distress presented to our unit. The results of coagulation tests were normal. An erythrocyte suspension transfusion was given to the patient. On the second day of his hospitalization, a leech was removed from his nose. In developing countries, leech infestation should be considered in cases where epistaxis, hematemesis, gastrointestinal bleeding and severe anemia are of unknown origin.