Akio Kubota

Handlebar hernia: case report and review of pediatric cases

Abstract The authors describe a rare case of handlebar hernia in a 9-year-old-boy. All layers of his abdominal wall were disrupted by a fall on a bicycle; however, his skin and intra-abdominal organs were completely intact. Computed tomography demonstrated subcutaneous intestinal loops protruding through the rent. Surgical repair was performed, and his postoperative course was uneventful.

Infantile myofibromatosis of the triceps detected by prenatal sonography

A routine prenatal sonographic examination at 36 weeks menstrual age revealed a solid and slightly inhomogeneous soft‐tissue tumor on a fetuss left upper arm. The mass in the left triceps brachii muscle measured 8 × 7 × 5 cm at birth. Because of progressive flexion contracture of the left elbow joint, at 2 months of age the infant underwent radical resection of the tumor, sparing some muscle fibers. Light microscopic and immunohistochemical studies revealed myofibromatosis. Neither tumor nor functional disorder of the arm was evident 3 years after surgery.

Congenital ileal atresia presenting as a single cyst-like lesion on prenatal sonography.

A routine prenatal sonographic examination at 37 weeks menstrual age revealed a large sonolucent lesion with peristaltic movement in the abdomen of a fetus. After birth, the female infant showed progressive abdominal distention, and radiography showed a bubble‐like dilatation of the small intestine. Exploratory laparotomy revealed ileal atresia with nearby partial torsion of the dilated small bowel. The incomplete torsion may have functioned as a check valve, inducing segmental dilatation of the ileum without proximal dilatation.

An unusual presentation of congenital infantile myofibromatosis arising from the interspinous ligament

Abstract The authors describe an extremely rare presentation of congenital infantile myofibromatosis. A full-term newborn boy presented with a thumb-sized subcutaneous mass on the mid-spinal line between the 2nd and 3rd lumbar spinous processes. A solid tumor arising from the interspinous ligament was resected. Microscopic and immunohistochemical studies revealed myofibromatosis.

Congenital esophageal atresia with tracheoesophageal fistula occurring in both members of dizygotic twins

Abstract The authors present a pair of dizygotic twins with congenital esophageal atresia with tracheoesophageal fistula who underwent successful single-stage surgical repair. To our knowledge, this is the second set of dizygotic twins with this congenital anomaly in the literature.

Giant purulent mesenteric cyst.

Infected intra-abdominal cystic lymphangiomas are very rare. We report a case of a purulent mesenteric cyst, histologically a cystic lymphangioma, w which developed in a 1-year-old girl who presented with marked abdominal distension and high fever. Magnetic resonance imaging revealed that the huge cystic lesion occupied the entire peritoneal cavity. It originated from the mesocolon. It was removed completely, and contained sticky pus at the base where the right fallopian tube penetrated it, which indicated the focus of infection. This may be the first report of a purulent mesenteric cyst in which the route of infection was suspected.

Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome.

Approximately 20% of Beckwith–Wiedemann syndrome (BWS) cases are caused by mosaic paternal uniparental disomy of chromosome 11 (pUPD11). Although pUPD11 is usually limited to the short arm of chromosome 11, a small minority of BWS cases show genome‐wide mosaic pUPD (GWpUPD). These patients show variable clinical features depending on mosaic ratio, imprinting status of other chromosomes, and paternally inherited recessive mutations. To date, there have been no reports of a mosaic GWpUPD patient with an autosomal recessive disease caused by a paternally inherited recessive mutation. Here, we describe a patient concurrently showing the clinical features of BWS and autosomal recessive cystinuria. Genetic analyses revealed that the patient has mosaic GWpUPD and an inherited paternal homozygous mutation in SLC7A9. This is the first report indicating that a paternally inherited recessive mutation can cause an autosomal recessive disease in cases of GWpUPD mosaicism. Investigation into recessive mutations and the dysregulation of imprinting domains is critical in understanding precise clinical conditions of patients with mosaic GWpUPD.

Subcapsular hemorrhage of the liver in a very-low-birth-weight neonate: survival after decompression laparotomy.

Abstract Subcapsular hemorrhage of the liver in a very-low-birth-weight neonate was successfully treated by decompression laparotomy. This may be the second smallest survivor after surgery in the literature.

Fibroadenoma in Beckwith–Wiedemann syndrome with paternal uniparental disomy of chromosome 11p15.5

Herein is described a case of breast fibroadenomas in a 16‐year‐old girl with Beckwith–Wiedemann syndrome (BWS) and uniparental disomy (UPD) of chromosome 11p15.5. She was clinically diagnosed with BWS and direct closure was performed for an omphalocele at birth. Subtotal and 90% pancreatectomy were performed for nesidioblastosis at the ages 2 months and 8 years, respectively. Bilateral multiple breast fibroadenomas were noted at the age of 16 and 17 years. In this case, paternal UPD of chromosome 11p15.5 was identified on microsatellite marker analysis. The relevant imprinted chromosomal region in BWS is 11p15.5, and UPD of chromosome 11p15 is a risk factor for BWS‐associated tumorigenicity. Chromosome 11p15.5 consists of imprinting domains of IGF2, the expression of which is associated with the tumorigenesis of various breast cancers. This case suggests that fibroadenomas occurred in association with BWS.

Application of a drug delivery system in a novel rat model of chronic hyperendotoxemia.

Abstractu2002There has not been an ideal reproducible small-animal model of chronic hyperendotoxemia to date. Our drug delivery system (DDS) is a new technology that can deliver a drug conveniently to a target organ at an optional rate. 2-Hydroxyethyl methacrylate (HEMA) was used as a carrier of lipopolysaccharide (LPS), and diethylene glycol and polyethylene glycol dimethacrylates (2G, 4G, 9G) were used as cross-linking agents. A mixed solution of HEMA and di(poly)ethylene glycol dimethacrylate was charged into a glass tube with or without LPS and polymerized by ultraviolet irradiation. This polymer was cut into DDS tablets of the same size with or without LPS. A mixture with HEMA:4G=1:3 was the most suitable composition to release a constant concentration of LPS. We also developed a novel rat model of chronic hyperendotoxemia. Four DDS tablets, each containing 15u2009mg LPS, were implanted into the abdominal cavity of rats in the LPS group. The control group was implanted with four DDS tablets without LPS. Plasma levels of LPS in the study group were maintained at more than 2,000u2009pg/ml for 72u2009h after implantation. Weight gain was lower and body temperature was higher in the LPS group than in the control group. Plasma levels of inter leukin (IL)-6 in the LPS group were higher than in the control group only during the initial 12u2009h after implantation of DDS tablets. The white blood cell count at 24u2009h and platelet counts at 24, 48, and 72u2009h in the LPS group were lower than those in the control group. These results indicate that chronic hyperendotoxemia was maintained for 72u2009h by continuous release of LPS from the DDS. Moreover, the intensity of endotoxemia could be varied by varying the number of DDS tablets. It is concluded that our new rat model using LPS–DDS will be applicable and useful as a model of chronic hyperendotoxemia.