Severe renal tubulopathy in a newborn due to BCS1L gene mutation: effects of different treatment modalities on the clinical course.

Very early onset Toni-Debré-Fanconi Syndrome, a disorder of proximal renal tubules of the kidney which results in the increased urinary excretion of glucose, amino acids, uric acid, phosphate and bicarbonate, could be the manifestation of various inborn errors. Defects of oxidative phosphorylation are a heterogeneous group of disorders with various clinical presentations. Recently, patients with early liver failure, renal tubulopathy and encephalopathy due to the mutations in the BCS1L gene coding for a structural protein in mitochondrial complex III have been described. Ten-day-old female newborn was referred to our clinic because of intractable acidosis. Physical examination revealed severe hypotonia, and hepatomegaly. The laboratory examinations revealed lactic acidosis, increased blood alanine, alanine aminotransferase and aspartate aminotransferase levels, generalized aminoaciduria and glucosuria. The tubular reabsorption of phosphate was reduced. Because of multisystem involvement, mitochondrial disease was suspected and the mutational analysis of the BCS1L gene revealed homozygous P99L mutation. As the patient was unresponsive to bicarbonate replacement, oral dichloroacetate and peritoneal dialysis, continuous high dose intravenous sodium bicarbonate therapy with a dose up to 1.25 mEq/kg/h was started. The patient got on well until the age of 9 months when she died of sepsis. It was stressed that high dose intravenous continuous sodium bicarbonate therapy could be an alternative treatment option in patients with severe acidosis and renal tubulopathy resistant to dichloroacetate and peritoneal dialysis. Patients with BCS1L mutations should be considered in the differential diagnosis of severe tubulopathy in the newborn period.

Life-threatening intracranial bleeding in a newborn with congenital cytomegalovirus infection: late-onset neonatal hemorrhagic disease.

The authors present a case of a 36-day-old infant with intracranial and intramuscular hemorrhage due to vitamin K deficiency bleeding, who received intramuscular vitamin K prophylaxis at birth. In this case, laboratory tests showed anemia, liver dysfunction with cholestasis, and coagulopathy, consistent with vitamin K deficiency abnormality. Serological analyses showed that cytomegalovirus immunoglobulin (Ig)M and IgG avidity were both positive. The infant was treated successfully with intravenous ganciclovir and blood products. This case suggests that it is imperative to meticulously investigate the etiology in neonates with late-onset hemorrhagic disease of the newborn. Cholestatic liver disease caused by congenital cytomegalovirus infection should be in mind in term infants who presented with late-onset hemorrhagic disease.

Debridement via collagenase application in two neonates.

Slow-healing wounds contain insufficient amounts of intrinsic collagenases to provide sufficient wound debridement, so that the use of products containing synergistic collagenases and proteases may be helpful. We report the successful use of collagenase clostridipeptidase A in two newborns, a premature infant with 3rd degree burns, and a term neonate with an extravasation necrosis caused by calcium gluconate. Surgical excision of necrotic tissue is a serious intervention and prolongs the duration of hospitalization. Enzymatic eschar removal may have an advantage over surgery especially in newborns with a high risk for surgery, with its possible complications, need for anesthesia, and perhaps for blood transfusion.

Inflammatory pseudotumor of the sigmoid colon mesentery: US and CT findings (2004:12b).

The concept of inflammatory pseudotumor has evolved from meticulous pathological studies; some of its histological features resemble a spindle-cell sarcoma. Despite the fact that it usually affects children and young adults, only limited numbers of childhood cases have been reported in the pediatric literature. Recognition of this rare entity is important because the clinical manifestations and radiological features may be indistinguishable from a malignant lymphoproliferative disorder. This entity has been reported to be anywhere in the body, including a variety of intra-abdominal organs. Although one of the most common intra-abdominal sites is the mesentery, localization within the mesentery of the sigmoid colon is particularly rare. We present a case of abdominal inflammatory pseudotumor of the sigmoid colon mesentery, defining its radiological and primarily ultrasound and Doppler ultrasound findings, with a review of additional examples from the literature.

The probiotic effect of Saccharomyces boulardii in a pediatric age group.

The aim of this study was to determine the efficacy of S. boulardii in diarrhea associated with commonly used antibiotics such as sulbactam-ampicillin (SAM) and azithromycin (AZT). Four hundred and sixty-six patients were assigned to four different groups as follows: group 1:117 patients receiving SAM alone; group 2:117 patients receiving SAM and S. boulardii, group 3:105 patients receiving AZT alone; group 4:127 patients receiving AZT and S. boulardii. Antibiotic-associated diarrhea was seen in 42 of the 222 patients (18.9 per cent) receiving an antibiotic without the probiotic, and in 14 of the 244 patients (5.7 per cent) who received both the probiotic and the antibiotic (p < 0.05). In the group receiving SAM where S. boulardii use was found to be significant, the use of S. boulardii decreased the diarrhea rate from 32.3 to 11.4 per cent in the 1-5 years age group (p < 0.05). This is a pioneering study investigating combined antibiotic and probiotic use in pediatric diarrhea patients.

Neuron-specific enolase levels and neuroimaging in asphyxiated term newborns.

The study was designed to investigate the cerebrospinal fluid and serum levels of neuron-specific enolase, along with cranial ultrasonography, magnetic resonance imaging (MRI), and electroencephalography (EEG), for predicting the clinical state and neurologic outcome of 26 asphyxiated term newborns. The babies were graded according to the Sarnat and Sarnat classification. Cerebrospinal fluid neuron-specific enolase levels of the 18 babies in the whole hypoxic-ischemic encephalopathy group were higher than the 8 babies in the "no encephalopathy" group. Cerebrospinal fluid neuron-specific enolase levels of 13 cases in the hypoxic-ischemic encephalopathy grade 2 and 3 groups (high-risk group) were higher than both the no encephalopathy and hypoxic-ischemic encephalopathy grade 1 groups when pooled. Cerebrospinal fluid neuron-specific enolase levels of the 7 newborns in the hypoxic-ischemic encephalopathy grade 3 group were also significantly higher than the 5 in the hypoxic-ischemic encephalopathy grade 1 group. The findings of cranial MRI, EEG, and cerebrospinal fluid neuron-specific enolase levels were correlated with each other and the clinical grade of the patients and also were predictive of the neurologic outcome at 1 year of age. Cerebrospinal fluid neuron-specific enolase levels, cranial MRI, and EEG are predictive of outcome of hypoxic-ischemic brain damage in asphyxiated newborns, and this predictivity would increase with the combination of these diagnostic parameters.