Prevention of recurrent febrile urinary tract infection in infants: Ultrasonography-oriented approach is more practical than a top-down approach.

BACKGROUND: We previously reported that the top-down approach (TDA) for infants with febrile urinary tract infections (fUTI) could prevent recurrent fUTI (r-fUTI) but produced a high number of false-positives on acute-phase 99m Tc dimercaptosuccinic acid (DMSA) renal scintigraphy. Therefore we compared the ultrasonography-oriented approach (USOA) with TDA from the viewpoint of prevention of r-fUTI. METHODS: The TDA was applied between July 2010 and February 2014 and the USOA was applied between March 2014 and April 2017 in infants with first fUTI. In the USOA group, voiding cystourethrography (VCUG) was performed in the case of abnormality on acute-phase renal bladder ultrasonography (RBUS) or on chronic- phase DMSA, which were performed in all cases. The frequency of r-fUTI was compared between the TDA group and USOA group retrospectively. RESULTS: Seventy-four infants (52 male) and 79 infants (60 male) received TDA or USOA, respectively. No significant differences were found between the TDA and USOA groups in male : female ratio, age in months at initial onset of fUTI, observation period, or number of cases of r-fUTI (TDA group, n = 4; USOA group, n = 5). Seventy-four DMSA scintigraphy and 25 VCUG were carried out in the USOA group, and 111 DMSA scintigraphy and 34 VCUG in the TDA group. CONCLUSIONS: Both USOA and TDA were valid for prevention of r-fUTI, but USOA was superior to TDA with regard to the reduced number of patients undergoing VCUG and DMSA.

New radiographic standards for age at appearance of the ossification center of the femoral head in Japanese: Appearance at ≤12 months of age is normal in Japanese infants.

BACKGROUND: The ossification center of the femoral head reportedly appears at 7-8 months in 95% infants in the radiographs, but its appearance often delays in Japanese normal infants. The purpose of this study was to survey the age at appearance of the femoral head in the radiographs, evaluate the normal standards of its appearance in Japanese infants, and determine whether the acetabular state affects the time of its appearance. MATERIALS AND METHODS: The patients comprised 436 infants consulted with our institution because of a limitation of abduction in flexion (LA), acetabular dysplasia, or suspected developmental dysplasia of the hip (DDH). Among these patients, 111 infants (222 hips) without radiographic appearance of the femoral head at the first visit were reviewed. The 222 hips were classified into three groups: α angle ≥30° (DDH + group), <30° with LA (DDH-/LA + group), or < 30° without LA (DDH-/LA-group). The age at appearance of the femoral head was investigated in the radiograph in each group. RESULTS: The 50th percentile of the age at appearance of the femoral head was 6 months in the DDH-/LA- and DDH-/LA + groups and 8 months in the DDH + group. The femoral head significantly appeared earlier in the DDH-/LA- and DDH-/LA + groups than in the DDH + group (P < 0.01). The 95th percentile was 12 months in all groups. CONCLUSIONS: Radiographic appearance of the ossification center of the femoral head by 12 months of age is normal in Japanese infants. When the α angle is ≥ 30°, the age at appearance of the femoral head is sometimes delayed.

A case of severe Alexander disease with de novo c. 239 T > C, p.(F80S), in GFAP.

Alexander disease (AxD) is a progressive neurodegenerative disease caused by a mutation in the glial fibrillary acid protein (GFAP) gene. A 4-year-old boy presented several times with hemiclonic seizures with eye deviation for a few minutes at 28 days after birth. Electroencephalogram showed independent sharp waves in the right and left temporal area. Magnetic resonance imaging showed high intensity T1-weighted images in the white matter of the frontal lobe and basal ganglia. He showed no head control at 4 years of age, and his weight gain was insufficient. He did not show macrocephaly. At 4 years of age, he died of bacterial pneumonia and septic shock. He was diagnosed with AxD, and direct sequencing revealed a de novo known mutation, c. 239 T > C, p.(F80S), in GFAP. Hela and U2-OS cells transfected with GFAP cDNA with c. 239 T > C showed dot-like cytoplasmic aggregation, similar to R239C, a common mutation found in severe infantile AxD. Aggregation in the cytoplasm caused by a GFAP mutation is a hallmark of AxD. Although there is only one previous report of a patient with an F80S mutation, our data support that F80S can cause the severe, infantile form of AxD.

Top-down approach is possible strategy for predicting breakthrough fUTIs and renal scars in infants.

BACKGROUND: Acute-phase technetium-99 m dimercaptosuccinic acid (DMSA) scintigraphy is recommended for initial imaging in children with febrile urinary tract infection (fUTI). Recently, the importance of identifying patients at risk of recurrent fUTI (r-fUTI) has been emphasized. To clarify the effectiveness of DMSA scintigraphy for predicting r-fUTI in infants, we investigated the relationship between defects on DMSA scintigraphy and r-fUTI. METHODS: Seventy-nine consecutive infants (male: female, 60:19) with fUTI were enrolled in this study. DMSA scintigraphy was performed in the acute phase, and patients with defect underwent voiding cystourethrography and chronic-phase (6 months later) DMSA scintigraphy. Patients were followed on continuous antibiotic prophylaxis (CAP). RESULTS: Defects on acute-phase DMSA scintigraphy were observed in 32 children (40.5%) of 79. The mean follow-up observation period was 17.0 ± 10.1 months. Four patients had r-fUTI (5%). Two of them had defects on DMSA scintigraphy in both the acute phase and chronic phase, and had bilateral vesicoureteral reflux (VUR) grade IV. Two others had r-fUTI without defects on DMSA and did not have VUR. Twelve patients had defect on chronic-phase DMSA scintigraphy and four of them had no VUR. CONCLUSIONS: The top-down approach is a possible method for predicting r-fUTI in infants and does not miss clinically significant VUR. Also, given that the prevalence of r-fUTI was 5% regardless of the presence of defects on acute-phase DMSA, then, in conjunction with genital hygiene and CAP, acute-phase DMSA might be unnecessary if chronic-phase DMSA is performed for all patients to detect renal scar.

The changes of urethral morphology recognized in voiding cystourethrography after endoscopic transurethral incision for posterior urethral valve in boys with intractable daytime urinary incontinence and nocturnal enuresis.

PURPOSE: Endoscopic transurethral incision (TUI) of posterior urethral valve (PUV) can improve daytime urinary incontinence (DUI) and nocturnal enuresis (NE). However, the underlying mechanism has not been elucidated. In this study, we retrospectively examined the mobility of the urethra before and after TUI by measuring the urethral angle with voiding cystourethrography (VCUG), to clarify the effects of TUI on the morphology of the urethra during voiding. METHODS: Between July 2010 and December 2014, 29 boys with intractable DUI and/or NE were diagnosed as PUV and underwent endoscopic TUI. VCUG during voiding phase was performed at sequential radiographic spot images (1 image per second) at a 45° angle in oblique standing position. The point at which the angle of the urethra was the smallest during urination was regarded as the minimum urethral angle. The maximum urethral angle during early voiding phase was compared with the minimum urethral angle, and the percentage by which this angle changed was calculated as the flexion rate. Then changes in minimum urethral angle and flexion rate were analyzed before and 3-4 months after TUI. RESULTS: After TUI, the minimum urethral angle on VCUG became more obtuse (before vs. after TUI, respectively: 112.7 vs. 124.5°, p < 0.001), the flexion rate decreased (before vs. after TUI, respectively: 11.8 vs. 4.1%, p < 0.001). CONCLUSIONS: This study demonstrated a significant difference in the degree of change. The findings may contribute to understanding of the mechanism of improvement in symptoms after TUI in patients with PUV.

Long-term follow-up results of the observation program for neuroblastoma detected at 6-month mass screening.

We conducted an observation program of neuroblastoma in infants, detected by mass screening at 6 months of age; we followed up with them for 15 years. No recurrence was observed after disappearance of tumors, and persistent tumors showed no malignant transformation or metastasis. Histology of the resected tumors showed age-related differentiation.

Langerhans cell histiocytosis case with dense metaphyseal band sign.

Eosinophilic granuloma, a type of Langerhans cell histiocytosis, exhibits a classic vertebral collapse, which is called vertebra plana (Calve's disease) and it manifests as a solitary bony lesion. Vertebra plana can cause severe pain in patients. Bisphosphonates (clodronate, pamidronate and zoledronic acid) have been recently used to treat osteolytic bone lesions of LCH. Zoledronic acid has 100 times relative potency that of pamidronate. We report a case of a 10-year-old girl who had zoledronic acid treatment for severe back pain due to vertebra plana. X-ray photographs of the patient's body showed dense metaphyseal band sign, which can be found in lead poisoning, treated leukemia, healing rickets, recovery from scurvy, vitamin D hypervitaminosis, congenital hypothyroidism and hypoparathyroidism. Increased biological potent zoledronic acid deprived her of severe back pain due to vertebra plana and might cause dense metaphyseal band sign of her skeleton. Conclusion; We have cured the severe back pain of a 10-year-old girl case of eosinophilic granuloma with zoledronic acid. After that treatment, X-ray photographs of the patient's body showed dense metaphyseal band sign. There have been few such cases reported until now.

Congenital high airway obstruction syndrome without tracheoesophageal fistula and with in utero decrease in relative lung size.

Congenital high airway obstruction syndrome (CHAOS) is diagnosed by characteristic features on US and MRI including fetal upper airway occlusion, lung hyperinflation with an inverted diaphragm, and sometimes massive ascites and hydrops. We describe a case of CHAOS in which improvement in the fetal condition was observed on three sequential fetal MRIs. Such an improvement was thought to represent decrease in intrathoracic pressure caused by a spontaneous perforation such as a tracheoesophageal fistula. However, a fistula was not observed in the present case. Therefore, we suggest that imaging improvements in patients with CHAOS do not always correspond to the presence of a fistula and other factors might contribute to decreasing fetal intrathoracic pressure.

Mesenteric venous thrombosis in a child with type 2 protein S deficiency.

A 5-year-old girl presented with abdominal pain and bloody stools 2 weeks after suffering from influenza A infection. Enhanced computed tomographic scan showed widespread splanchnic venous thrombosis and small intestine necrosis. She recovered after the necrotic bowel was resected. The patient continues to receive anticoagulant therapy. Thrombophilia screening after the complete resolution consistently showed mildly decreased protein S (PS) activity with normal PS antigen levels. Sequence analysis detected a heterozygous K196E mutation in the PROS1 gene. Type 2 PS deficiency was diagnosed. This is the first report of mesenteric vein thrombosis in a child with a type 2 PS deficiency.

Hypothyroxinemia and effectiveness of thyroxin supplementation in very low birth weight infants with abdominal distension and poor weight gain.

BACKGROUND: Very low birth weight (VLBW) infants sometimes develop abdominal distension and poor weight gain. The influence of thyroid function on these symptoms in VLBW infants has not been reported. METHODS: In a retrospective study, 18 VLBW infants whose abdominal distension and poor weight gain did not improve with standard treatment were enrolled as subjects. Serum levels of free thyroxin (fT(4)) and thyroid stimulating hormone (TSH) were measured. Subjects with serum fT(4) levels less than 1.3 ng/dl received thyroxin supplementation. Another 18 VLBW infants were recruited as age- and weight-matched controls. We compared degree of intestinal dilation on X-ray, weight gain, and quantity of milk tolerated before and after starting thyroxin supplementation in the subjects and the controls. RESULTS: All subjects had serum fT(4) levels less than 1.3 ng/dl (mean, 0.72 ng/dl). TSH values varied widely and were less than 8 microU/ml in 12 subjects. Therefore, all subjects received thyroxin supplementation; after starting this, mean serum fT(4) level increased significantly to 1.31 ng/dl. In parallel with fT(4) increase, intestinal dilation improved in 16 of 18 subjects (mean grade of dilation decreased from 2.8 to 1.6). Weight gain and quantity of tolerated milk were significantly increased with thyroxin supplementation in all and 17 of the 18 subjects, respectively. CONCLUSIONS: Thyroxin supplementation was effective in improving abdominal symptoms in VLBW infants whose serum fT(4) level was less than 1.3 ng/dl.

Elevated CSF IL-6 in a patient with respiratory syncytial virus encephalopathy.

The patient was an 11-month-old boy who developed encephalopathy associated with respiratory syncytial virus bronchiolitis. Right hemispheric encephalopathy was indicated by left hemiparesis and a diffuse right hemispheric lesion detected with magnetic resonance imaging. Elevated levels of interleukin-6 in the cerebrospinal fluid during the acute phase suggested the involvement of increased production of one or more cytokines in the pathogenesis of viral related encephalopathy, similarly to that proposed for influenza encephalopathy.

Magnetic resonance venography of achondroplasia: correlation of venous narrowing at the jugular foramen with hydrocephalus.

In achondroplasia, venous narrowing associated with a small skull base leads to elevated venous pressure which impairs cerebrospinal fluid (CSF) absorption, resulting in communicating hydrocephalus. We correlated venous narrowing at the jugular foramina and collateral circulation on magnetic resonance venography (MRV) with ventricular size in 17 patients. Patients were divided into three groups: Group I: progressive hydrocephalus; Group II: nonprogressive hydrocephalus; and Group III: normal ventricular size. The grades of venous narrowing and types of collaterals were well correlated with hydrocephalus groups.

Endosurgical procedures for pediatric solid tumors.

The aim of this study was to evaluate the advantages and complications of endosurgical procedures for benign and malignant pediatric solid tumors. Endosurgical techniques of biopsy and excision were used for diagnosis and treatment of solid tumors, respectively. Since July 1997, a total of 24 biopsies and 24 excisions have been performed laparoscopically for neuroblastoma ( n=24), ovarian solid tumors ( n=10) and other tumors. Seventeen biopsies and six excisions were performed for abdominal neuroblastoma, while ten excisions were performed for ovarian tumor. In these patients, the length of the operation, blood loss, time to start postoperative feeding, time to start postoperative chemotherapy and length of hospital stay were evaluated and compared to the those of the open surgery group. Furthermore, intra- and postoperative complications were analyzed in all patients of both groups. The length of the hospital stay and time to start postoperative feeding were significantly shorter in the group of patients who underwent endosurgical procedures for either abdominal neuroblastoma or ovarian tumor when compared to the open procedure group. The time to start postoperative chemotherapy was shorter only in the abdominal neuroblastoma group. The procedure for two patients undergoing endosurgical tumor excision had to be converted to open surgery due to large tumor size. Two weeks after thoracoscopic excision of a dumb bell-type neurofibroma, one patient underwent open repair of the dura mater because of leakage of cerebrospinal fluid. There were no port-site recurrences in any tumor types. Endosurgical procedures for solid tumors are effective and minimally invasive. However, better indicators are needed for their implementation in order to prevent complications and subsequent conversions to open procedures.