A severe form of non-classic Pompe's disease with normal creatinine kinase level.

A 24-month-old boy was referred to our pediatric intensive care unit because of difficulty in weaning from artificial ventilation. He had 2 bronchopneumonia attacks in 2 months; the diagnosis of Pompe's disease was confirmed by low glucosidase activity in lymphocytes and cultured fibroblasts without abnormality in the serum creatine kinase level. Our patient's creatine kinase levels were permanently normal. To the best of our knowledge, our Pompe's case is the first in the literature who has normal creatinine kinase levels despite earlier onset and rapidly progressive disease.

Evaluation of laboratory tests in dehydrated children with acute gastroenteritis.

OBJECTIVE: The aim of the present study was to demonstrate the utility of laboratory tests in predicting dehydration severity. METHODOLOGY: We evaluated retrospectively 168 dehydrated children aged 1-21 months with acute gastroenteritis. The degree of dehydration in each patient was calculated as the percentage change in weight from admission to after rehydration. The associations between degree of dehydration, urea, bicarbonate and serum sodium were examined. RESULTS: Dehydration severity was significantly related to concentrations of urea (P < 0.00001) and bicarbonate (P = 0.01), but not to serum sodium or age. Children were divided into three groups on the basis of blood urea: (i) normal (< 6.7 mmol/L or < 40 mg/dL); (ii) intermediate (6.8-16.6 mmol/L); and (iii) high (>or=16.7 mmol/L or >or=100 mg/dL). Groups 1 and 3 had statistically significant associations with the degree of dehydration and combining the urea groups with plasma bicarbonate levels enhanced the accuracy of predictions. Group 1 had only mild to moderate dehydration, but if bicarbonate was 15 mmol/L or higher, there was a positive predictive value (PPV) of 93% for mild dehydration. Group 3 had moderate to severe dehydration, but if bicarbonate was 15 mmol/L or higher, moderate dehydration could be predicted (PPV 100%). Sixty per cent of mildly dehydrated children (32/53) had low bicarbonate, but only 7% (2/29) with bicarbonate 15 mmol/L or higher had severe dehydration. Serum sodium did not have any significant association with the degree of dehydration, or the levels of bicarbonate or urea. CONCLUSIONS: The results suggest that serum urea and bicarbonate concentrations can be helpful in the estimation of fluid deficit independently from serum sodium concentration, and may be considered to be adjuncts to clinical evaluation in assessing the degree of dehydration.

Efficacy of long duration resuscitation and magnesium sulphate treatment in amitriptyline poisoning.

A single dose of cyclic antidepressants leads to death in childhood. Myocardial depression and ventricular arrhythmia are the severe side effects in cyclic antidepressant overdose. A 23-month-old boy was brought to hospital because 36 mg/kg of amitriptyline had been taken. Cardiopulmonary resuscitation was applied for 70 minutes due to cardiac and respiratory arrest. Circulation was restored after resuscitative efforts. However, ventricular tachycardia was detected which did not respond to lidocaine, bicarbonate and cardioversion treatment. Magnesium sulphate treatment was started and cardiac rhythm normalized. No side effects were observed. The duration of resuscitation should be extended in cases of cardiopulmonary arrest secondary to tricyclic antidepressants intoxication. It should be continued at least for 1 hour. Magnesium sulphate was found to be extremely effective in a case of amitriptyline intoxication refractory to treatment.

Ceftriaxone-induced haemolytic anaemia in a child with no immune deficiency or haematological disease.

A 5-year-old girl, with no underlying immune deficiency or haematologic disease, was treated with ceftriaxone for a urinary tract infection. After receiving ceftriaxone intramuscularly, massive haemolytic anaemia developed. Laboratory studies showed the presence of an antibody against ceftriaxone, and the findings reflected immune complex type haemolysis. High-dose corticosteroids appeared to be effective therapeutically.

A rare cause of intracranial hemorrhage: factor X deficiency.

Congenital factor X deficiency is a rare inherited coagulation disorder, characterized by prolonged prothrombin time and partial thromboplastin time. For the definite diagnosis, specific factor X level should be investigated. We describe a patient with factor X deficiency who had intracranial hemorrhage. Hematologic tests showed prolonged prothrombin time, partial thromboplastin time, and a factor X level of 5%. The patient's hemorrhage resolved with fresh frozen plasma replacement. In this article, we discuss the clinical features and management of factor X deficiency.

Bacterial nosocomial infections in mechanically ventilated children.

Of 480 patients admitted to the Pediatric Intensive Care Unit of the Institute of Child Health Children's Hospital in Istanbul, 97 required mechanical ventilation (MV). Sixty of these children were included in a retrospective analysis aiming to determine the frequency of and factors contributing to the development of nosocomial infections (NI). NI rate was 45 percent, ventilator-associated pneumonia (VAP) accounted for the greater part (66.7%) of the NI, followed by urinary tract infections (16.7%), septicemia (13.3%), and meningitis (3.3). Pseudomonas aeruginosa was the most frequent cause of VAP. The duration of the MV and invasive interventions were important risk factors for the development of VAP.

Acute childhood hemiplegia associated with chickenpox.

Although primary varicella-associated central nervous system complications and herpes zoster ophthalmicus with delayed hemiplegia are well known, and chickenpox is a common infection, cerebral vasculopathy associated with chickenpox has only been described recently. We report the case of an 18-month-old girl who developed a right hemiplegia 10 days after the onset of a primary varicella infection. She has the shortest latent interval in the literature. Cranial computed tomography and magnetic resonance imaging suggest an infarction involving the left putamen and internal capsule. Magnetic resonance angiography is normal. Possible causes of acute infantile hemiplegia are excluded. Neurologic signs gradually improve without any specific treatment. A review of the literature is also presented.

Vitamin K deficiency--late onset intracranial haemorrhage.

A retrospective study is presented of the clinical features and outcome of late onset haemorrhagic disease due to vitamin K deficiency in 11 babies who were admitted to the emergency or child neurology unit during a 4-year period (January 1994-December 1997). The disease occurred in infants between 30 and 119 days of age (mean: 56+/-24 days). None of them received vitamin K after birth and all were breastfed. The presenting complaints were seizures (91%), drowsiness (82%), poor sucking (64%), vomiting (46%), fever (46%), pallor (46%), acute diarrhoea (27%), irritability and high-pitched cry (18%). On examination, tense or bulging fontanelle (73%), anisocoria (36%), weak neonatal reflexes (18%), cyanoses (18%) were the most frequent findings. The localizations of the intracranial haemorrhage were as follows: intracerebral (91%), subarachnoid (46%), subdural (27%), and intraventricular (27%). No fatality was observed. However, after a follow-up period ranging from 6 to 48 months (mean: 21+/-13 months), only three (27%) infants remained neurologically normal. Seizure disorders (73%), severe psychomotor retardation (46%), cerebral palsy (46%) and microcephaly (46%) were observed in the remainder. Hydrocephalus developed in three (27%) babies but none of them required shunt replacement. The value is emphasized of vitamin K prophylaxis in the newborn to reduce the incidence of late onset intracranial haemorrhage and handicap in children.

Analysis of patients admitted to the emergency unit of a university children's hospital in Turkey.

A retrospective analysis of the computerized data of patients admitted to our Emergency Unit Inpatient Service in 1991 was conducted to obtain data about age, sex, referred sources, admission period, monthly admission rates, diagnoses and eventual outcome. More than 47% of patients were younger than one year of age. The most common causes for hospital admission were infectious, respiratory and neurological diseases. The mean hospitalization period was 3.26 days. More than 60% of patients were treated by the Emergency Unit staff. The net mortality rate was 2.9%, infectious diseases being the most common cause of mortality. We conclude that demographic and diagnostic data regarding admissions to the Emergency Unit can be utilized to develop new strategies for patient care and to reorganize education programs for pediatric residents.

Renal replacement therapies for critically ill pediatric patients.

It could be a great challenge for a nephrologist to prescribe a renal replacement therapy for a critically ill, hemodynamically unstable pediatric patient. Intermittent hemodialysis and peritoneal dialysis frequently fall short of being an optimal renal replacement therapy for such a patient. Continuous hemofiltration is offering new alternatives that can deliver sufficient clearance to meet the needs of a critically ill child. High fluid intake required for total parenteral nutrition and medications can easily be fulfilled by these modalities without compromising the cardivascular system. Of these techniques, continuous veno-venous hemofiltration is superior to continuous arterio-venous hemofiltration because it delivers a consistent ultrafiltration rate dependent on pump-driven blood flow and does not require the insertion of a large-bore catheter into an artery. Thus, various modalities of hemofiltration can offer an alternative to the critically ill child with acute renal failure.

Noncardiogenic pulmonary edema in childhood.

Pulmonary edema is caused by transudation of fluid from pulmonary capillaries into the alveolar spaces and the bronchiolus. It is most frequently secondary to either increased pulmonary capillary hydrostatic pressure (cardiogenic pulmonary edema) or increased pulmonary capillary permeability (noncardiogenic pulmonary edema). Numerous systemic and pulmonary insults are capable of damaging the capillary endothelium and/or alveolar epithelium, resulting in noncardiogenic pulmonary edema. Although clinically similar, the presence of noncardiogenic pulmonary edema requires a different therapeutic approach from that of cardiogenic pulmonary edema.

Carbohydrate malabsorption in acute diarrhea.

A group of 245 well nourished infants with acute diarrhea were screened for carbohydrate malabsorption by evaluating stool pH and reducing substances in the stools. Carbohydrate malabsorption was diagnosed in 28 cases (11%). Clinical features of carbohydrate intolerance were present in only one case. The duration of diarrhea after admission ranged from 1 to 13 days (mean 3.9 days). An oral lactose tolerance test was consistent with lactase deficiency in 32% of all cases. Thin layer chromatography showed many carbohydrates including monosaccharides in the stools, indicating that the defect in intestinal absorption was not specific for lactose.

Case of spontaneous haemothorax associated with an endodermal sinus tumour.

Spontaneous haemothorax is rare in infants. A case is reported of a nine month old infant who was found to have an endodermal sinus tumour.

Development of Kasabach-Merritt syndrome following needle aspiration of a hemangioma.

A case of Kasabach-Merritt syndrome that developed following needle aspiration in an infant with hemangioma is presented. Enlargement of the tumor leading to severe respiratory distress accompanied by hemorrhages occurred within six to eight hours after this simple intervention. The symptoms continued despite repeated thrombocyte transfusions and prednisolone therapy. Radiotherapy and local intraarterial corticosteroid therapy were attempted and led to some improvement. It took approximately three months for the platelet count and one year for the clinical state to revert to normal. This case illustrates that minor trauma may lead to life-threatening symptoms in a young infant with congenital hemangioma.

Pericardial mesothelioma. A pediatric case report.

A nine and a half year old boy was brought to the hospital because of a cough, dyspnea and mild fever. He was well-nourished and had an uneventful history. His chest X-ray and electrocardiographic findings suggested pericarditis but further examinations and an open pericardial biopsy revealed a mass histologically diagnosed as pericardial mesothelioma, a very rare tumor in this age group.