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.

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.

Electrical cardioversion of atrial fibrillation in a case of dextrocardia.

Although atrial fibrillation is one of the most frequent and widespread cardiac arrhythmias, there is not sufficient data on frequency and electrical cardioversion of this arrhythmia in cases of dextrocardia. The present case report describes a 66-year-old woman with atrial fibrillation and dextrocardia who was admitted to hospital with a complaint of palpitations; no cause of the atrial fibrillation was found. Electrical cardioversion was performed for termination of the arrhythmia. By placing the anterior paddle in the right parasternal area and the lateral paddle in the area where the apex of the left ventricle palpated at the right side of the chest, cardioversion was performed and sinus rhythm was achieved.

Airway foreign bodies in childhood.

OBJECTIVE: To define clinical spectrum of airway foreign body aspiration in children and to evaluate the outcome and complications. METHODS: A total of 53 patients (27 girls, 26 boys) with a mean age of 30.0+/-32.7 months, who aspirated foreign bodies were treated with bronchoscopy were divided into two groups with respect to the time they were diagnosed as early (Group 1, n=22,

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.

Evaluation of lymphatic drainage of cold thyroid nodules with intratumoral injection of Tc-99m nanocolloid.

PURPOSE: The lymphatic system may show variations throughout the entire body. Knowledge of the variations and aberrant lymph drainage are important when planning surgical treatment and radiotherapy. The aim of this study was to evaluate the intratumoral injection technique in the detection of lymphatic drainage of proved or possibly malignant cold thyroid nodules. MATERIALS AND METHODS: The study group consisted of 13 patients with palpable solitary cold thyroid nodules. None of the patients had cystic nodules on ultrasound examination. After fine-needle aspiration biopsy (at least 3 days later), 15 MBq (0.4 mCi) Tc-99m nanocolloid particles in a small volume (0.2 ml) were injected into the nodule. Dynamic images (60 frame x 1 minute) were acquired during the first hour, followed by static anterior and lateral images at 90 and 120 minutes. RESULTS: Radiopharmaceutical was present in the systemic circulation in two patients, possibly as a result of paratumoral injection. Eleven patients had intratumoral accumulation in early frames. Lymph nodes draining the thyroid nodule were visualized in 10 of 11 patients. In the dynamic acquisition period of 7 of 10 patients, the first draining lymph node could also be identified. Only 5 of 13 patients had malignant nodules. Lymphatic metastases were detected in one patient's specimens. CONCLUSIONS: Preoperative visualization of lymphatic pathways may be used when planning for thyroid cancer surgery. Sentinel node detection could yield valuable additional information in these patients.

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.

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.

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.

Hemostatic problems and thromboembolic complications in nephrotic children.

A hypercoagulable state and the risk of thromboembolism in both arterial and venous circulation is a relatively frequent and serious feature of nephrotic syndrome (NS) in children and adults. The aim of this study was to evaluate the coagulation states of children with NS before and after corticosteroid (CS) therapy and to compare the results with a healthy control group. The first group consisted of 49 nephrotic children (30 boys and 19 girls) with a mean age of 6. 5+/-4.9 years (range 1-16 years). The control group included 17 healthy children (9 boys and 8 girls). At the time of admission, all patients were evaluated for the presence of clinical thromboembolism, hematological and biochemical indicators of a hypercoagulative state, and renal disease. This was repeated after CS treatment. Deep vein thrombosis was observed in 2 nephrotic patients who had very low plasma antithrombin III (AT III) levels and fibrinogen levels above 750 mg/dl. Thus, the prevalence of thromboembolism was 4% in our pediatric nephrotic population. The mean AT III level of the study group was 68.2+/-23.4% at the onset of the disease, which was significantly lower than the level of the control group (84.0+/-7. 6%). Plasma AT III levels increased to 74.4+/-15.3% after CS treatment, which correlated with the serum albumin levels. However, there was no correlation with urinary protein excretion. Protein C levels were higher than controls during all stages of the disease in both steroid-responsive and -unresponsive patients. The mean protein S level was similar in both groups. Plasma fibrinogen and cholesterol levels were significantly higher in the study group but decreased to within normal limits with remission. Our study suggests that thromboembolic complications are not infrequent in children with NS, and may be related to low plasma AT III and albumin and high fibrinogen and cholesterol levels.