Background: Flat head syndrome (FHS) sometimes occurs when a baby maintains the same head position during the first several months of life, causing a skull deformity. FHS usually improves with time and natural growth, although some show aggravation against conservative treatment. We reviewed pathologically proved early closure of skull suture that may be seen secondary to FHS.
View Article and Find Full Text PDFSagittal suture synostosis is one of the most common craniosynostoses and is often diagnosed by characteristic narrow and long skull shape, scaphocephaly. However, some patients with sagittal suture synostosis do not present with typical scaphocephaly, making early diagnosis difficult. In this study, five cases of characteristic skull deformity showing a narrowing of the cranium posterior to the coronal suture on computed tomography (CT) are presented.
View Article and Find Full Text PDFFetal Pediatr Pathol
October 2022
Background: Meckel's diverticulum (MD) is a remnant of the omphalomesenteric duct. Although the majority of MD are asymptomatic, it can present with severe hematochezia. Hematochezia is generally considered to result from a peptic ulcer caused by ectopic gastric mucosa in MD.
View Article and Find Full Text PDFCongenital central hypoventilation syndrome is a disorder of respiratory control caused by mutations in the paired-like homeobox 2B gene. Mutations in the paired-like homeobox 2B gene are also responsible for Hirschsprung's disease. Variant Hirschsprung's disease is a rarer disorder that does not meet the diagnostic criteria of Hirschsprung's disease, although severe functional bowel obstruction persists.
View Article and Find Full Text PDFReports of hepatoblastoma (HB) in preterm infants are quite rare. Herein, we report the clinical management of a preterm infant with inoperable congenital HB. A female fetus that had been diagnosed with a large liver tumor consistent with hemangioma was delivered by emergency cesarean section at 33 weeks of gestation because of fetal distress.
View Article and Find Full Text PDFBackground: Succinyl-coenzyme A ligase (SUCL) is a mitochondrial enzyme that catalyses the reversible conversion of succinyl-coenzyme A to succinate. SUCL consists of an α subunit, encoded by SUCLG1, and a β subunit, encoded by either SUCLA2 or SUCLG2. Recently, mutations in SUCLG1 or SUCLA2 have been identified in patients with infantile lactic acidosis showing elevated urinary excretion of methylmalonate, mitochondrial respiratory chain (MRC) deficiency, and mitochondrial DNA depletion.
View Article and Find Full Text PDFJ Pediatr Surg
November 2007
We report a case of gastric adenomyoma in a 1-month-old girl. This patient presented with gastric outlet obstruction simulating infantile hypertrophic pyloric stenosis. Histologic examination of the excised specimen showed irregularly arranged glands and interlacing smooth muscle bundles surrounding the glandular elements.
View Article and Find Full Text PDFWorld J Gastroenterol
September 2007
A 3-year-old boy developed transient protein-losing gastroenteropathy associated with cytomegalovirus (CMV) infection. Both IgG and IgM antibodies to CMV were positive in a serologic blood test. Upper gastrointestinal endoscopy showed multiple erosions throughout the body of the stomach, without enlarged gastric folds.
View Article and Find Full Text PDFWe describe a case of Hodgkin lymphoma developing in a 9-year-old girl with polyarticular, rheumatoid factor-positive juvenile idiopathic arthritis treated with methotrexate (MTX), prednisone, and naproxen for 5 years. Pathologic and molecular analyses revealed that the Hodgkin cells contained Epstein-Barr virus and the viral DNA was monoclonal. She achieved complete remission after MTX withdrawal, chemotherapy, and radiation.
View Article and Find Full Text PDFWe describe 2 siblings who had interleukin-1 receptor-associated kinase 4 deficiency with a novel mutation in exon 2. They had delayed separation of the umbilical cord. The flow cytometric analysis of monocytic intracellular tumor necrosis factor-alpha production in response to lipopolysaccharide may be a useful method to screen for the disease.
View Article and Find Full Text PDFHypercalcemia in childhood acute lymphoblastic leukemia (ALL) is rare and occasionally associated with parathyroid hormone-related protein (PTHrP). However, the pathogenesis of PTHrP-independent hypercalcemia remains unclear. We report two children with precursor B ALL who had marked hypercalcemia (15.
View Article and Find Full Text PDFWe present a rare case of subcutaneous lesions arising in the palm of a 4-year-old girl. Histologic examination of the biopsy specimens showed granulomatous inflammation with focal necrobiosis, which was consistent with subcutaneous granuloma annulare. Subcutaneous granuloma annulare is a self-limited disease and treatment is not required, although recurrence and/or multiple lesions are frequent.
View Article and Find Full Text PDFObjects: The aims of the study were (1) to review the pathological findings of spinal lipomatous masses associated with congenital spinal dysraphism and (2) to discuss the pathological diagnosis.
Methods: The pathological records of 47 patients at our institution were reviewed, and three illustrative cases were presented.
Conclusion: Spinal tumorous lesions associated with spinal dysraphism have been traditionally described as lipoma since they are composed mostly of fatty tissue.