TTC7A mutation must be considered in patients with repeated intestinal atresia associated with early inflammatory bowel disease: Two new case reports and a literature review.

TTC7A mutations cause multiple neonatal intestinal atresias with early inflammatory bowel disease and severe combined immunodeficiency. There are no treatment protocols for this rare disease. Two new cases are described for which radical early treatment measures - total enterectomy, home parenteral nutrition, immunoglobulin therapy and intravenous antibiotic prophylaxis - have allowed both patients to develop optimally.

[Cytomegalovirus colitis in an immunocompetent child]. / Colite à cytomégalovirus chez un enfant immunocompétent.

Cytomegalovirus (CMV) colitis is uncommon in young infants. Here we report a case of a 10-week-old breastfed infant admitted to the emergency room for rectal bleeding. He had had stools streaked with red blood for four days, was in good general condition, and was apyretic. Blood count, C-reactive protein, stool bacteriology and virology, abdominal X-ray examination, and abdominal ultrasounds did not reveal any abnormality. Cow's milk protein allergy was suggested despite the negativity of specific immunoglobulins E (IgE) and a diet excluding cow's milk protein was initiated in the mother. In a context of persistent rectal bleeding and good general condition, an endoscopic examination found diffuse hemorrhagic colitis and an erythematous aspect of the fundus. CMV was revealed by histological examination (typical cytopathic effect and immunostaining) and high viral load in the blood. The patient's immune balance was normal and the mother did not have any form of CMV infection. The diagnosis of primary CMV infection was retained in this immunocompetent child. Rectal bleeding disappeared without specific antiviral treatment. This observation points out that with rectal bleeding in an infant, cow's milk protein allergy should not be the only cause considered.

Prevalence of liver complications in children receiving long-term parenteral nutrition.

BACKGROUND/OBJECTIVES: The hepatic prognosis of long-term home total parenteral nutrition (TPN)-dependent children is poorly documented. The objective was to study outcome data in home TPN-dependent children and to describe precisely their liver biopsies in the attempt to analyze risk factors for biochemical and histological hepatic abnormalities. SUBJECTS/METHODS: Medical records of 42 children receiving home TPN for more than 2 years between January 1998 and December 2007 in a single approved home total parenteral center were reviewed. Hepatic biochemical abnormalities were analyzed. Hepatic biopsies were classified by two independent pathologists. RESULTS: Duration of TPN was 7.9±0.8 years (mean±s.e.m.), with an average age at onset of 1.5±0.5 years. A total of 24 patients (57%) developed biochemical liver abnormalities in an average of 2.9±0.4 years after starting TPN. Risk factors for biochemical abnormalities were younger age at TPN commencement, longer duration of TPN, higher rate of catheter-related infections and higher volume and energy content of TPN. Liver biopsies were carried out in 43% of patients (mean age 3.2±0.9 years). Almost all patients had fibrosis (94%). Risk factors were dependent on each histological abnormality: fibrosis was significantly associated with a shorter length of bowel and a longer duration of TPN; cholestasis correlated with a lower percentage of total parenteral energy intake due to lipids; and steatosis had no risk factor identified. CONCLUSION: Our study reports a high rate of histological liver abnormalities and analyzes risk factors in children who underwent very long-term home TPN.

[Inflammatory pseudotumor of the larynx in children]. / Tumeur pseudo-inflammatoire du larynx chez l'enfant.

OBJECTIVE: Describe the management of laryngeal pseudotumor in a young boy with exclusive endoscopic resection with laser CO2 resection. MATERIAL AND METHOD: Case report. RESULTS: We report a rare case of a laryngeal pseudotumor in a child that was successfully treated with endoscopic resection with laser CO2 vaporization. The last follow-up at 12 months revealed no evidence of recurrence and no voice sequelae. This is the first case reported that was successfully treated after a single procedure. It is the second one where tracheotomy was avoided. CONCLUSION: Endoscopic resection with laser CO2 vaporization is a safe and effective treatment in cases of limited laryngeal inflammatory pseudotumor in a pediatric population, but close follow-up is necessary because of the risk of local recurrence.