Outcome of infants presenting rectal bleeding: a retrospective study in a single institution.

BACKGROUND: Although rectal bleeding in infancy (RBI) is not a rare phenomenon, the clinical course of RBI is not fully understood. METHODS: To investigate the outcome and pathogenesis of RBI, especially when concomitant with food-protein-induced proctocolitis (FPIP) and neonatal transient eosinophilic colitis (NTEC), 22 neonates with rectal bleeding with FPIP and NTEC from January 2008 to June 2012 were enrolled and their clinical course and mechanisms of inflammation were examined. RESULTS: Thirteen infants showed rectal bleeding after feeding and were diagnosed with FPIP, and nine infants showed rectal bleeding before feeding and were diagnosed with NTEC. Elevated peripheral white blood cell (12,685 ± 3754/µl and 30,978 ± 16,166/µl) and eosinophil (1084 ± 816/µl and 4456 ± 3341/µl) were confirmed in FPIP and NTEC, respectively. Colonoscopy revealed nodular lymphoid hyperplasia, a pale mucosal surface and oozing with diffuse infiltration of neutrophils, lymphocytes, and eosinophils in both groups. Reverse transcription polymerase chain reaction analysis revealed enhanced expression of the interleukin-6, CCL11, and CXCL13 genes, where CXCL13 expression was more prominent in FPIP. Mucosal infiltration by CD3- and immunoglobulin-A- but not immunoglobulin-E-positive cells was confirmed. Among them, only one infant with FPIP developed milk allergy, whereas none with NTEC had developed milk allergy at the age of 1 year. CONCLUSIONS: FPIP in infancy and NTEC are similar diseases and interleukin-6, CCL11, and CXCL13 may play a major role in the pathogenesis of rectal bleeding. Although the involvement of allergic reaction is possible, milk allergy was not a common outcome after 1 year of follow up.

Duplicate testicular veins accompanied by anomalies of the testicular arteries.

Duplicate testicular veins associated with other anomalies of the testicular arteries were observed during dissection of the posterior abdominal wall in a 90-year-old Japanese male cadaver. The right testicular vein was composed of the medial and lateral testicular veins. The medial testicular vein drained into the inferior vena cava, whereas the lateral testicular vein drained into the confluence of the inferior vena cava and right renal vein. Several anastomosing branches were seen between the medial and lateral testicular veins. The left testicular vein was formed after the medial and lateral venous trunks joined and drained into the ipsilateral renal vein. The right testicular artery originated from the anterior surface of the abdominal aorta at the level of the left renal artery, passed posterior to the inferior vena cava, and accompanied the right lateral testicular vein running downwards. The left testicular artery arose from the abdominal aorta at a level of 5 cm below the origin of the right testicular artery, and then ran downwards accompanied by the medial trunk of the left testicular vein.

A boy with a severe phenotype of succinic semialdehyde dehydrogenase deficiency.

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive disorder affecting γ-aminobutyric acid degradation. We describe here a boy with a severe phenotype of SSADH deficiency. He was referred because of a developmental delay at 4 months of age. At the age of 8 months, severe seizures developed. The diagnosis of SSADH deficiency was confirmed by an increase in 4-hydroxybutyric acid and heteroallelic mutation in the ALDH5A1 gene. His seizures were successfully treated with high-dose phenobarbital, and the electroencephalogram (EEG) abnormalities were ameliorated. However, the patient showed a degenerative clinical course with severe neurological deficits. A magnetic resonance imaging (MRI) scan revealed abnormal high intensities in the putamina and caudate nuclei on T2-weighted images, followed by marked atrophic changes. The clinical manifestation of our patient indicates the wide variety of SSADH deficiency phenotypes.