Jarcho-Levin syndrome presenting with diaphragmatic hernia.

Jarcho-Levin syndrome (spondylothoracic or spondylocostal dysostosis) is an eponym that is used to define individuals with a short neck, short trunk, and short stature and multiple vertebral anomalies. The prognosis is directly related to respiratory complications. Reported findings associated with Jarcho-Levin syndrome include congenital heart defects, abdominal wall malformations, genitourinary malformations, upper limb anomalies, and neural tube defects. We report on a 6-day-old girl who presented with an incomplete form of Jarcho-Levin syndrome with late-presenting congenital diaphragmatic hernia and congenital heart disease.

Fatal acidosis in a neonate with Pearson syndrome.

We report a neonate who presented with hypotonia, hypoglycemia, and severe lactic acidosis. The patient's acidosis did not respond to bicarbonate replacement and dialysis. Postmortem liver samples revealed portal dilatation, fibrosis, canalicular proliferation, cholestasis, and hepatocellular hemosiderosis. Vacuolization of bone marrow precursors suggested a diagnosis of Pearson syndrome. A common mitochondrial DNA deletion of 4,978 bp was found. We emphasize that Pearson syndrome should be considered in neonates with lactic acidosis despite absence of anemia.

Pulmonary hemosiderosis with juvenile rheumatoid arthritis: a case report.

Pulmonary hemosiderosis may rarely be associated with juvenile rheumatoid arthritis or can develop during the course of the disease. We present a three-year-old boy with severe iron deficiency anemia (without any pulmonary symptoms) and arthralgia at the time of diagnosis. Two years after the initial diagnosis he developed pulmonary hemosiderosis and pauciarticular type of juvenile rheumatoid arthritis which progressed to seronegative polyarticular juvenile rheumatoid arthritis. He responded very well to prednisolone and was maintained well on low-dose alternate-day prednisolone and naproxen sodium treatment. This is the only case of association of these two diseases in our experience in both the Pediatric Rheumatology and Pediatric Respiratory Diseases Departments.

Efficacy of oxybutynin, pseudoephedrine and indomethacin in the treatment of primary nocturnal enuresis.

The efficacy of oxybutynin, pseudoephedrine and indomethacin treatment was investigated in 29 patients with primary nocturnal enuresis. Patients were randomly assigned to either oxybutynin (1st group, n = 9), pseudoephedrine (2nd group, n = 11) or indomethacin (3rd group, n = 9) treatments. Oxybutynin and indomethacin did not cause a statistically significant difference in the number of dry nights (p > 0.05), but patients treated with pseudoephedrine had a significant increase in the number of dry nights (p < 0.05). Five patients in the oxybutynin and one patient in the indomethacin group experienced side effects. None of the patients in the pseudoephedrine group had any complaints with the drug. We therefore conclude that pseudoephedrine can be an alternative in the treatment of primary nocturnal enuresis.

Gaucher disease with communicating hydrocephalus and cardiac involvement.

A 14-year-old female with Gaucher disease presented with hydrocephalus, corneal opacities, cirrhosis, and cardiac valvular involvement. A homozygous D409H mutation was identified. She underwent surgery for aortic and mitral valve replacement. Because of severe calcification of the aortic root, no successful valve replacement was performed. She died on the third day after the explorative cardiac surgery. Cardiac abnormalities represent a life-threatening presentation of the homozygous D409H mutation. Identification of this type is essential prior to initiating appropriate therapy with enzyme replacement and cardiac corrective surgery.

[Papilloedema and brain abscess associated with isolated left superior vena cava draining in to the left atrium]. / Stauungspapille bei Gehirnabszess assoziiert mit isolierter persistierender linker Vena cava superior mit Drainage in den linken Vorhof.

BACKGROUND: Papilloedema and brain abscess associated with persistent left superior vena cava draining into the left atrium without sinus coronarius and atrium septum defect is rare and until now in only few cases have been reported. PATIENT: A 12 year-old girl was admitted because she had suffered from headache and blurred vision for 2 weeks. Fundus examination revealed papilloedema with peripapillary intraretinal haemorrhages. Pupillary reaction to light was normal. An afferent pupillary defect was negative. Neurological examination was without any focal neurological signs. Cerebral magnetic resonance imaging showed the characteristic features of a brain abscess in the left frontal lobe (3.5 x 3.0 x 2.8). Cardiological examination showed the presence of an isolated left superior vena cava draining into the left atrium in the absence of coronary sinus and atrial septum defect. CONCLUSION: Congenital heart disease such as LSVC is rare. The association of LSVC with papilloedema and brain abscess is very rarely seen. However, the complications of LSVC can be life-threatening. Therefore in children with papilloedema, intraocular and intraorbital reasons as well as congenital heart disease as the underlying reason should be included in the differential diagnosis.

Unusual and early hyperglycemia following amiodarone infusion in two infants.

Amiodarone is an effective antiarrhythmic agent that is widely used for tachyarrhythmias, especially ventricular tachycardia and supraventricular tachycardia. It has some mild short-term (e.g., skin rashes, gastrointestinal symptoms, and corneal microdeposits) and long-term side effects (thyroid dysfunction, visual disturbances, pulmonary infiltrates, ataxia, and hepatitis). We present two infants who had hyperglycemia following amiodarone infusion during the early postoperative period.

Malnutrition and growth failure in cyanotic and acyanotic congenital heart disease with and without pulmonary hypertension.

AIM: To investigate the effect of several types of congenital heart disease (CHD) on nutrition and growth. PATIENTS AND METHODS: The prevalence of malnutrition and growth failure was investigated in 89 patients with CHD aged 1-45 months. They were grouped according to cardiac diagnosis: group aP (n = 26), acyanotic patients with pulmonary hypertension; group ap (n = 5), acyanotic patients without pulmonary hypertension; group cp (n = 42), cyanotic patients without pulmonary hypertension; and group cP (n = 16), cyanotic patients with pulmonary hypertension. Information on socioeconomic level, parental education status, birth weight and nutrition history, number of siblings, and the timing, quality, and quantity of nutrients ingested during weaning period and at the time of the examination were obtained through interviews with parents. RESULTS: There was no significant difference between groups in terms of parental education status, socioeconomic level, duration of breast feeding, and number of siblings (p > 0.05). Group cP patients ingested fewer nutrients for their age compared to other groups. 37 of the 89 patients were below the 5th centile for both weight and length, and 58 of 89 patients were below the 5th centile for weight. Mild or borderline malnutrition was more common in group aP patients. Most group cp patients were in normal nutritional state, and stunting was more common than wasting. Both moderate to severe malnutrition and failure to thrive were more common in group cP patients. CONCLUSION: Patients with CHD are prone to malnutrition and growth failure. Pulmonary hypertension appears to be the most important factor, and cyanotic patients with pulmonary hypertension are the ones most severely affected. This study shows the additive effects of hypoxia and pulmonary hypertension on nutrition and growth of children with CHD.

Spontaneous hemothorax in a hemodialysis patient.

An 8-year-old girl who had undergone chronic hemodialysis for 1 year presented with respiratory distress 24 h after a hemodialysis session. She had a massive pleural effusion of the left chest that was shown to be hemothorax by thoracentesis. After chest tube insertion, drainage was maintained for 2 days. Pleural effusion recurred after withdrawal of the chest tube. The antecubital arteriovenous fistula on the left arm was found to have an excessive flow with a thrill which was felt all over her left shoulder and left hemithorax. The pleural effusion resolved spontaneously a week after ligation of the fistula. Excessive flow in the arteriovenous fistula was thought to be the cause of the hemothorax and should be included in the differential diagnosis of hemothorax in hemodialysis patients.

Intranasal budesonide spray as an adjunct to oral antibiotic therapy for acute sinusitis in children.

We investigated the clinical value of intranasal budesonide in acute sinusitis in 52 children with acute maxillary sinusitis. We randomly divided them into two groups: group 1 received oral pseudoephedrine (2 x 30 mg) and cefaclor (40 mg/kg) for 10 days, and group 2 received intranasal budesonide (2 x 100 microg) and cefaclor (40 mg/kg) for 10 days. Symptoms of headache, cough, and nasal stuffiness and signs of nasal discharge were graded before and after treatment. The patients whose symptoms and signs completely normalized after treatment were considered to have recovered, and those with persisting symptoms and signs after treatment as having not recovered. The results of the two treatment groups were compared. The recovery rate of the children in group 2 were significantly higher than those in group 1 (P < 0.05). No adverse drug effects were determined during the study period. These findings suggest that topical steroids may be a useful adjunctive agent in the treatment of acute sinusitis of children without apparent side effects and can possibly hasten the resolution of symptoms.

Subcutaneous fat necrosis of the newborn associated with anemia.

Subcutaneous fat necrosis (SFN) of the newborn characteristically affects full-term infants who have experienced perinatal distress, such as hypothermia, obstetric trauma, or asphyxia. We report a newborn who had pallor, deep breathing, and severe anemia immediately after birth. She developed SFN on the fourth postnatal day. Her condition improved after blood transfusions and the skin lesions resolved in 6 weeks. This appears to be the first report of SFN associated with anemia.

One center's experience with remifentanil infusions for pediatric cardiac catheterization.

OBJECTIVE: To investigate the efficacy of a remifentanil infusion for pediatric cardiac catheterization. DESIGN: Prospective. SETTING: University hospital. PARTICIPANTS: Children undergoing cardiac catheterization (n = 55). INTERVENTIONS: All patients (age range, 2 months to 12 years) were premedicated with an oral mixture of hydroxyzine and midazolam 60 minutes before the procedure. A remifentanil infusion was initiated at 0.1 microg/kg/min before the start of cardiac catheterization. Noninvasive systolic blood pressure, heart rate, oxygen saturation (SpO(2)), respiratory rate, and sedation score were recorded before the remifentanil infusion and every 15 minutes thereafter throughout the procedure. Episodes of apnea, vomiting, pruritus, and muscle rigidity and recovery time were noted. MEASUREMENTS AND MAIN RESULTS: There were no significant changes in systolic blood pressure, heart rate, SpO(2), or respiratory rate during the procedure. The sedation scale scores at 30, 45, 60, 75, and 90 minutes of remifentanil infusion were significantly lower than the scores recorded at baseline and 15 minutes. In 23 patients, the remifentanil infusion maintained a satisfactory level of sedation, but 32 patients required additional drugs (18 received midazolam, and 14 received midazolam plus ketamine). Recovery was rapid after the remifentanil infusion was discontinued, with a mean time of 2.04 +/- 2.32 minutes to reach a recovery score of > or =5. Three patients experienced apnea after bolus doses of remifentanil, 1 patient vomited, and 1 patient complained of pruritus. CONCLUSION: In pediatric cases in which other intravenous analgesics and sedatives are contraindicated, remifentanil infusion appears to be a suitable alternative based on its associated rapid recovery and stable hemodynamics.

Gastroduodenal lesions and Helicobacter pylori in children with end-stage renal disease.

Thirty-seven children with end-stage renal disease were evaluated for gastroduodenal lesions by upper gastrointestinal endoscopy between January 1993 and January 1998. The mean (+/-SD) age of the patients was 14.3+/-2.4 years (range 9-17 years). Endoscopic examination was abnormal in 17 patients (46%). The lesions were antral gastritis plus bulbitis (n=6), nodular bulbitis (n=4), antral gastritis (n=4), and duodenal ulcer (n=3). Fifteen patients had symptoms related to gastroduodenal disease, whereas 22 patients were asymptomatic at the time of endoscopic examination; 80% of the symptomatic and 23% of the asymptomatic patients had gastroduodenal lesions on endoscopy. Antral mucosal biopsy was taken from 26 of 37 children for the detection of Helicobacter pylori by the urease test. H. pylori was detected in 10 of 16 patients with gastroduodenal lesions (8 symptomatic, 2 asymptomatic). None of the patients with normal endoscopic examination were positive for H. pylori. Thus, we have demonstrated a significant number of gastroduodenal lesions and their frequent association with H. pylori in our pediatric renal transplant candidates. Our results emphasize the importance of gastrointestinal evaluation in these patients. Endoscopic examination should be considered in symptomatic patients and in areas where H. pylori is endemic.

Systemic inflammatory response related to cardiopulmonary bypass and its modification by methyl prednisolone: high dose versus low dose.

The objective of our study was to investigate the safety and efficacy of high-dose methyl prednisolone (MP) in modifying the systemic inflammatory response (SIR) to cardiopulmonary bypass (CPB) and to compare its efficacy with low-dose MP in children undergoing cardiac surgery for congenital heart disease. Thirty children with congenital heart disease undergoing CPB were randomly assigned to two groups: group 1 (n = 15) received 30 mg/kg MP by an intravenous infusion for 30 minutes and group 2 (n = 15) received 2 mg/kg intravenously, before the onset of CPB. Postoperative clinical parameters were recorded, and serum interleukin (IL)-6 and 8 levels, acute phase reactants, and blood biochemistry were determined serially for both groups. In both groups plasma IL-6 and 8 levels were elevated above the preoperative levels at 2 and 24 hours after declamping. The peak levels were obtained at 2-hour samples. The difference between the two groups in terms of postoperative IL-6 and 8 levels was not statistically significant. C-reactive protein (CRP) levels and polymorphonuclear leukocyte counts, postoperative core temperature, duration of mechanical ventilation, period of stay in intensive care unit, oxygenation indices, and biochemical parameters of patients did not significantly differ in the two groups. Only 1 patient in group 1 had elevated liver enzymes, blood urea nitrogen, and creatinine in the postoperative period. No significant complications were observed due to treatment with high-dose MP. Although postoperative IL and CRP levels indicated a SIR in our patients, the clinical picture was apparently affected in only 1 patient and she was in the high-dose MP group. CPB initiates a SIR that is associated with an increase in neutrophil count, CRP, and IL-6 and 8 levels. High-dose (30 mg/kg) MP was not superior to low-dose (2 mg/kg) in blunting the SIR to CPB in pediatric patients undergoing open-heart surgery.