Neonatal hemolytic anemia does not always indicate thalassemia: a case report.

BACKGROUND: Congenital erythropoietic porphyria is a rare autosomal recessive disorder that affects heme-porphyrin synthesis. This disorder is due to the genetic defect of uroporphyrinogen III cosynthase. This defect results in the accumulation of high amounts of uroporphyrin I in all tissues, leading to clinical manifestations ranging from mild to severe chronic damage of the skin, cartilage and bone. Hypertrichosis, erythrodontia and reddish-colored urine are often present, as well as hemolytic anemia accompanied by hepatosplenomegaly. CASE PRESENTATION: Here, we present a case of a 5-year-old male child of Middle Eastern origin who had been diagnosed as having alpha thalassemia and was undergoing chronic blood transfusions. He later presented with hypopigmented skin lesions and atrophy post-photosensitivity, persistent red-colored urine and hepatosplenomegaly. Laboratory investigations showed a high level of porphyrin metabolites in his plasma and erythrocytes. As a result, he was diagnosed as having Congenital erythropoietic porphyria. CONCLUSION: Here, we diagnose a case of congenital erythropoietic porphyria which was initially missed, although the clinical features were clear (red-colored urine, hepatosplenomegaly and hemolytic anemia were present since birth, and skin manifestations appeared at the age of 22 months after being exposed to sunlight). After a DNA test was performed, the patient was initially diagnosed as having alpha thalassemia. We identified two causes of hemolytic anemia (congenital erythropoietic porphyria and alpha thalassemia) in this patient. The diagnosis of congenital erythropoietic porphyria was missed up until the child turned 5 years old. To our knowledge, this is the first case of hemolytic anemia to be reported with a diagnosis of both congenital erythropoietic porphyria and alpha thalassemia.

Laparoscopic ventral hernia repair: defining the learning curve.

Between 2004 and June 2011, 181 patients underwent laparoscopic ventral hernia repair. Three main surgeons, all experienced in laparoscopic procedures, performed all the cases. After analyzing the operative time (OT) for 3 main surgeons, within the first 20 cases the overall performance plateaued. Data from 60 patients (50F, 10M), with a mean age of 42.3 years (range, 26 to 88 y) and a mean hernia defect size of 6.5 cm (range, 4 to 18 y), were evaluated. No significant differences were recorded among the 3 surgeons in OT and intraoperative or postoperative complications. But 3 (5%, P<0.03) patients had complications, and the recurrence rate was 6.6% with a mean follow-up of 54 months (range, 42 to 70 mo). One had prolonged postoperative ileus, the second had bowel serosal tear, and the last had port-site incarcerated hernia. Our results showed that the OT of 98.9 minutes (range, 48 to 205 min) stabilized in 12 cases.