Clinical characteristics and outcomes of primary antibody deficiency: a 20-year follow-up study.

BACKGROUND/PURPOSE: Primary antibody deficiency is the most common disorder among primary immunodeficiencies. Recurrent infection and chronic lung change often lead to mortality and morbidity. METHODS: This study focused on the clinical presentation, molecular diagnosis, and outcomes of primary antibody deficiency in Taiwan pediatric group. Medical records of patients with primary antibody deficiency during the period 1990-2010 were retrospectively reviewed in one medical center. RESULTS: Among the 34 patients evaluated, X-linked agammaglobulinemia (XLA) (29.4%) and common variable immunodeficiency diseases (CVIDs) (29.4%) were the most common disorders presented with respiratory and skin infections. Some genotype/phenotype discordance was found in one family. Patients with XLA, CVID, and hyper-IgM syndrome without complications had higher trough and initial IgG levels, and shorter delays in diagnosis. Patients with trough IgG levels >700 mg/dL had less occurrence of bronchiectasis. CONCLUSION: These results summarized clinical manifestations of primary antibody deficiency in pediatric group in Taiwan. Clinicians should strive to shorten delays in diagnosis and maintain higher trough IgG levels to decrease subsequent mortality and morbidity.

Differential manifestations of prepubescent, pubescent and postpubescent pediatric patients with systemic lupus erythematosus: A retrospective study of 96 Chinese children and adolescents.

BACKGROUND: Children represent 10-20% of all systemic lupus erythematosus (SLE) patients. Their clinical manifestations and outcomes vary with age. We aim to clarify the relationship between pubescent status and the clinical manifestations of pediatric SLE. METHODS: In this study, pediatric SLE patients were divided into three groups, based on age at disease onset (≦8, 8-13 & 13-18 years), defined as prepubescent, pubescent and postpubescent, respectively. Initial clinical manifestations and laboratory characteristics at diagnosis were analyzed. RESULTS: Ninety-six patients were entered into the study: 8 had disease onset before age 8, while 49 were between 8-13 and 39 of them were 13-18. Female predominance was noted in all three groups (2.5-7.0:1). Postpubescents showed significantly more renal involvement and lymphopenia, along with lower levels of C3 and C4, when compared with prepubescents. They also showed significantly more lymphopenia when compared with pubescents. Pubescents showed significantly more renal involvement, leukopenia and lupus anticoagulant (LAC) positivity, along with lower C3 and C4 levels, when compared with prepubescents. Pubescents also showed significantly higher anti-Sm antibody positivity when compared with postpubescents. Prepubescents showed significantly more splenomegaly and anti-Jo-1 antibody positivity when compared with those of pubescents. The results showed that the disease activity (SLEDAI-2K score) correlated positively with age at disease onset and negatively with disease duration before diagnosis (p = 0.011). CONCLUSIONS: Age at disease onset is related to initial manifestations in pediatric SLE patients at our center. Certain parameters such as renal involvement, splenomegaly, low C3 level, low C4 level, lymphopenia, leukopenia, and anti-Sm & anti-Jo-1 antibody were found to be significantly different among the age groups. Renal involvement might be the key symptom that varies with age.

Transanal repair of colonic perforation due to ventriculoperitoneal shunt--case report and review of the literature.

Colonic perforation is an extremely rare complication following ventriculoperitoneal (VP) shunting. Laparotomy to repair the perforation site is usually required for patients with peritonitis. Here we report colonic perforation due to VP shunt in a 4-year-old girl, presenting with a distal catheter protruding out of the anus as well as symptoms and signs of peritonitis. The distal catheter was removed and the perforation site was repaired successfully via the anus. Postoperative course was uneventful. Trans-anal repair of the colonic perforation after removal of the distal shunt may be considered an alternative choice for managing this kind of complication.

Treatment of duodenal duplication by trans-umbilical exploratory minimal laparotomy.

Duodenal duplication cysts are rare congenital lesions usually diagnosed in infancy, although they may present in adulthood. Prenatal diagnosis is difficult, and postnatal diagnosis relies on ultrasonography, barium swallow, contrast-enhanced computerized tomography, magneticresonance imaging (MRI), and magnetic resonance cholangiopancreatography. A female newborn was diagnosed with an abdominal cyst (size around 6 x 5 x 4 cm) at gestational age (GA) 24 weeks, by regular prenatal examination. After her birth at GA 37 weeks, we performed abdominal ultrasonography and RI, but there was no definite diagnosis. The usual management of an abdominal cyst involves resection by laparotomy (requiring a large incision) or laparoscopy (requiring several small incisions). We performed an exploratory trans-umbilical minimal laparotomy excision for surgery, and the pathology revealed duodenal duplication. In our case, there was no recurrence of the cyst after 18 months follow-up, and the operation scar was almost undetectable. Trans-umbilical minimal laparotomy excision may be considered as an alternative choice for the management of abdominal and duodenal duplication cysts.

Management of sigmoid volvulus based on Ladd's procedure: a case report.

Sigmoid volvulus is a rare but potentially life-threatening condition in childhood. Colectomy is usually required to prevent recurrent volvulus, which carries a high risk of morbidity and mortality. Here, we report a non-resection method based on the concept of Ladd's procedure to treat a sigmoid volvulus in a 15-year-old boy. After reduction of the volvulus, the distance between the sigmoid-rectal junction and the sigmoid-descending colon junction was widened by dissecting the meso-sigmoid colon along the course of the long axis. No colon resection was performed. The total operation time was less than an hour. The post-operative recovery was uneventful. There was no recurrent volvulus during a follow-up of 1 year. Widening the base of the mesosigmoid according to the concept of Ladd's procedure may be considered as a more simple and safe alternative treatment to prevent recurrent sigmoid volvulus in children.