Diagnostic Significance of Absence of Post-Feeding Contraction of the Gallbladder in Biliary Atresia: Two Case Reports.

Ultrasonography is an essential part of the diagnostic process of biliary atresia (BA). The characteristic findings of BA include a hilar hyperechoic zone, the triangular cord sign (TCS), an absence of gallbladder contraction after feeding, and gallbladder atrophy. However, approximately 10% of patients with BA have a normal gallbladder.

Combined Single Nucleotide Variants of and in a Child with Refractory Kawasaki Disease.

Kawasaki disease (KD) is a systemic vasculitis with an unknown etiology affecting young children. Although intravenous immunoglobulin (IVIG) plus acetylsalicylic acid is effective in most cases, approximately 10-20% of patients do not respond to this therapy. An 8-month-old boy was admitted to a local hospital with the presumptive diagnosis of KD.

Shwachman-Diamond syndrome: Nationwide survey and systematic review in Japan.

Background: Shwachman-Diamond syndrome (SDS) is a rare multisystem disorder associated with exocrine pancreatic insufficiency. The present study reports the results of a nationwide survey and a systematic review on SDS to develop consensus guidelines for intractable diarrhea including SDS.

Methods: Questionnaires were sent to 616 departments of pediatrics or of pediatric surgery in Japan in a nationwide survey.

The Diagnostic Significance of Comorbidities of Congenital Heart Diseases, Low-Set Ears, and Intrauterine Growth Restriction in Neonates With Trisomies 13 and 18.

Background: Trisomies 13 and 18 (T13/18) are autosomal trisomy syndromes with dismal prognoses. Deciding whether to perform a chromosomal analysis for the definitive diagnosis is often difficult (even for experienced pediatricians) because representative clinical signs may not be found in all T13/18 neonates.

Objectives: This study aimed to investigate any clinical signs that could be useful for screening for T13/18 in participants without the representative clinical signs traditionally found in odd-looking neonates with malformation syndromes.

Significance of twinkling artifact on ultrasound in the diagnosis of cystine urolithiasis.

Twinkling artifact (TA) refers to the finding characterized by both a high-echoic mass upon B-mode ultrasound (US) and turbulence-like signals over the entire mass without significant blood flow on color Doppler US. TA is a characteristic sign of urolithiasis, and there has been no previous report on this finding in the digestive tract. The authors recently encountered a 2-year 9-month-old boy with cystinuria presenting with an opacified abdominal mass.

Novel mutation (L157X) in the succinate dehydrogenase B gene (SDHB) in a Japanese family with abdominal paraganglioma following lung metastasis.

Recently, nuclear genes encoding two mitochondrial complex II subunit proteins, SDHD and SDHB, have been found to be associated with the development of familial pheochromocytomas and paragangliomas (hereditary pheochromocytoma/paraganglioma syndrome: HPPS). Growing evidence suggests that the mutation of SDHB is highly associated with abdominal paraganglioma and the following distant metastasis (malignant paraganglioma). In the present study, we report the case of a novel SDHB mutation (L157X) in a Japanese patient with abdominal paraganglioma following malignant lung metastasis.

Cecal volvulus in children with mental disability.

Two cases of cecal volvulus in children with mental disability are described. Case 1: a 3-year-old girl with trisomy 18 was admitted with abdominal pain and vomiting. She had received left lateral segmentectomy 6 months earlier because of hepatoblastoma.

Usefulness of magnetic resonance cholangiopancreatography in biliary structures in infants: a four-case report.

In this paper, we report the usefulness of magnetic resonance cholangiopancreatography (MRCP) in excluding biliary atresia (BA) as the cause of neonatal cholestasis. MRCP with a 1.5-T magnetic resonance (MR) imaging unit was performed on four jaundiced neonates and infants aged from 38 days to 106 days.

The role of a mutation of the CXCR4 gene in WHIM syndrome.

We investigated the role of a mutation of the CXCR4 gene in 11-year-old twin sisters with WHIM syndrome. The mutated gene may result in production of the mutant CXCR4 protein causing abnormal apoptosis and migratory function, which are thought to be related to the cause of chronic neutropenia in WHIM syndrome.