A rare subtelomeric deletion syndrome: Wolf Hirschhorn syndrome.

Wolf-Hirschhorn syndrome is caused by a deletion of the distal portion of the short arm of chromosome 4, and is characterized by psychomotor retardation, seizures, congenital malformations, and typical facial appearance including 'Greek warrior helmet' appearance of the nose. The form and the severity of clinical manifestations vary according to the size and location of the deletion. Major complications are severe growth retardation, developmental delay, seizures, feeding difficulties due to hypotonia, and predisposition to respiratory infections. Patients will benefit from supportive therapy and special education. It is important in terms of prognosis to provide counseling to families in this respect. We present here a case with Wolf-Hirschhorn Syndrome in order to remind its rarity and the ability of the patients' progress in the areas of motor skills, speech, social interaction.

Nasal midazolam effects on childhood acute seizures.

Sixteen children, aged from 2 months to 14 years, with a diagnosis of acute seizures and seen at Dr. Sami Ulus Child Health and Disease Center, were included in this study. Midazolam (5 mg/mL) 0.2 mg/kg was administered intranasally in 30 seconds by an injector. The heart rate, respiratory rate, blood pressure, and oxygen saturation were recorded at 0, 5, and 10 minutes after administration. The seizures of three (18.7%) patients terminated within 1 minute, of seven (43.7%) patients in 1 to 2 minutes, and of three (18.7%) patients in 2 to 5 minutes. However, three (18.7%) patients did not respond to treatment. As a result, it was concluded that intranasal midazolam administration is easy and effective. The half-life of midazolam is shorter than diazepam, and midazolam has fewer complications when compared with diazepam. It is easier to use in nasal drop and spray forms.

A new case of Balci's syndrome (corneal opacity, microphthalmia, microcephaly, mental retardation, and generalized muscular spasticity associated with congenital heart disease).

The association of corneal opacity, microphthalmia, microcephaly, mental retardation, and generalized muscular spasticity with hyperglycinemia was presented for the first time by Balci and colleagues in 1974. After this report, some similar cases in the literature were referred to as Balci's syndrome. In this paper we describe a new case of Balci's syndrome, a 2.5-month-old female patient with corneal opacity, microphthalmia, microcephaly, mental retardation, and generalized muscular spacticity. All of these findings are acceptable as Balci's syndrome, and in addition she had congenital heart disease (ventricular septal defect) and renal anomalies. In this paper other syndromes associated with corneal opacity and mental retardation are discussed.

Can zinc deficiency be used as a marker for the diagnosis of celiac disease in Turkish children with short stature?

BACKGROUND: It is generally accepted that celiac disease (CD) must always be considered when dealing with growth failure in children. Therefore, it is important to develop screening tests for detecting patients that need an intestinal biopsy. The aim of the present study was to investigate the value of plasma zinc levels for the diagnosis of monosymptomatic CD in short-statured children. METHODS: Fourty-nine children with a short stature and 34 healthy controls were investigated. Plasma zinc levels were assayed by atomic absorption spectrophotometry in short-statured children and controls. All patients with short stature underwent endoscopic small intestinal biopsy. RESULTS: Duodenal mucosal histopathology was normal in 25 children. Low plasma zinc values were observed in 54.2% of patients with CD, 32.0% of patients with idiopathic short stature and 14.8% of controls. The mean values of plasma zinc levels were not significantly different among the three groups. Sensitivity, specificity and the positive and negative predictive values for plasma zinc were 45.8, 76.0, 64.7 and 59.4%, respectively. CONCLUSIONS: These results indicate that zinc deficiency is an important problem in CD children with short stature; however, plasma zinc levels are not useful as a screening test for selecting patients for jejunal biopsy.

Echocardiographic evaluation of cardiac functions and left ventricular mass in children with malnutrition.

OBJECTIVE: This study was undertaken to assess the left ventricular mass (LV Mass) and systolic and diastolic functions of the left ventricle in children with protein energy malnutrition (PEM). METHODOLOGY: Thirty children, aged between 2 months and 2 years with PEM (four kwashiorkor, seven marasmic- kwashiorkor, 19 marasmus), and 17 healthy, age-matched children, using Doppler echocardiography were studied. RESULTS: The mean LV Mass in the patients was lower than that in the controls (14.5 +/- 5.2 vs 19.8 +/- 4.7 g, P < 0.05). However, the LV Mass/body surface area was not different in the patients with PEM and in the control group (52 +/- 9.2 vs 53.9 +/- 8.2g/m(2), P > 0.05), indicating that LV Mass was reduced in proportion to decrease in body size in malnutrition. Left ventricular septal and posterior wall thickness in PEM were also lower than that in the controls, and the most significant reduction in the LV Mass, septal and posterior wall thickness were found in the kwashiorkor group. Cardiac output was reduced in proportion to decrease in body size in the patient group (1.6 +/- 0.5 vs 2.1 +/- 0.8 L/min, P < 0.05), therefore cardiac index was not significantly different between the patients and the control subjects (5.9 +/- 1.4 vs 5.7 +/- 1.6 L/min/m(2), P > 0.05). Systolic function indices including ejection fraction, fractional shortening, and diastolic function indices were not significantly different in the groups. CONCLUSIONS: We demonstrated that LV Mass and cardiac output were reduced in proportion to decrease in body size in patients with PEM, and LV systolic and diastolic functions were preserved in atrophic hearts.