Nutritional status and body composition in children with inflammatory bowel disease: a prospective, controlled, and longitudinal study.

BACKGROUND: Malnutrition and growth retardation (GR) are major extraintestinal presentations of inflammatory bowel disease (IBD) in childhood and are especially prevalent among those with Crohn's disease (CD). We aimed to evaluate nutritional and growth status and body composition (BC) of children with IBD during a 1-year follow-up. METHODS: Thirty-eight children with IBD and 57 age- and sex-matched controls were recruited prospectively. Anthropometry (weight, height, body mass index (BMI), and triceps skinfold thickness (TSFT) indicated as z scores for age and sex and mid-arm circumference) and bioelectrical impedance analysis were performed at baseline (T0) and after 1 year (T1). Disease activity was evaluated by clinical scoring systems. GR was defined as HAZ < -2, undernutrition as WAZ < -2, severe malnutrition (SM) as BMIZ < -2, and obesity was defined as BMIZ > +2. A p value of <0.05 was considered statistically significant. RESULTS: Thirty-six children with IBD (22 ulcerative colitis, 12 CD, and 2 indeterminate colitis) and 43 controls completed the study. Most patients were in remission during the study period (T0:71.4%; T1:72.2%). No significant differences were found regarding the frequency of GR (5.6%/8.3%), undernutrition (11.1%/2.8%), and SM (11.1%/5.6%) between T0 and T1 in the IBD group. The changes in anthropometrics and BC measurements during the study period did not differ between the groups except for the TSFT z score. CONCLUSION: Most patients with IBD were well nourished and grown, although some children were underweight and had GR. Our results suggest that, in IBD patients, the fat mass (FM) showed a gradual increase over time compared with controls.

INFLAMMATORY BOWEL DISEASE-LIKE PHENOTYPE IN A YOUNG GIRL WITH PROLIDASE DEFICIENCY: A NEW SPECTRUM OF CLINICAL MANIFESTATION.

Prolidase deficiency (PD) is an inherited disorder associated with cutaneous ulcers, intellectual disability, unusual facial appearance, skeletal deformities, hematological anomalies, splenomegaly, and chronic infections. We report a girl with PD who presented with early inflammatory bowel disease (IBD). A 2-month-old girl with a dysmorphic face presented with recurrent respiratory tract infections, vomiting, diarrhea and hepatosplenomegaly. She had steatorrhea, abnormal liver enzymes, hypergammaglobulinemia, autoantibody positivity and steatohepatitis in liver biopsy. On follow-up, skin lesions, pruritus and developmental delay were added. At the age of 21 months, IBD was diagnosed with persistent diarrhea, fever, hypoalbuminemia, elevated inflammatory markers, fecal leukocytes and aphthous ulcers in colon. Remission was achieved with prednisone and continued with mesalasine. Thrombocytopenia developed after 3 years. Her findings prompted us to further investigations. PD as the underlying molecular cause of the disease was detected by exome sequencing. In conclusion, PD should be considered in the differential diagnosis of some IBD patients.

Crigler-Najjar syndrome type I in a Turkish newborn caused by a novel mutation and Gilbert type genetic defect.

Crigler-Najjar syndrome (CNS), caused by deficiency of bilirubin uridine diphosphate glucuronosyltransferase (UGT) 1A1, is a rare and autosomal recessive inherited disorder characterized by severe unconjugated nonhemolytic hyperbilirubinemia since birth. We present a girl with CNS type I caused by a novel mutation and Gilbert type genetic defect. Gilbert's Syndrome (GS) and CNS type I both involve abnormalities in bilirubin conjugation secondary to deficiency of bilirubin UGT. The combined defects even in benign genetic forms were shown to cause more serious clinical disease. The patient has been treated with daily home-based phototherapy for more than nine months and considered as a candidate for liver transplantation.

Hypertrophic osteoarthropathy in a child with biliary atresia.

Hypertrophic osteoarthropathy is a syndrome characterized by clubbing of the digits of the hand/foot, periosteal reaction and arthralgia or arthritis which is usually secondary to cyanotic congenital heart disease and chronic pulmonary infections. This syndrome rarely occurs in association with chronic liver disease in childhood. Here, we report on a child with biliary atresia who developed arthralgia and arthritis during follow-up and which was diagnosed as hepatic hypertrophic osteoarthropathy. It is emphasized that hypertrophic osteoarthropathy should be considered in the differential diagnosis of arthralgia and arthritis in children with long-standing chronic liver diseases, especially if finger clubbing is also present.

Hemorrhagic shock and encephalopathy syndrome: neurologic features.

Hemorrhagic shock and encephalopathy syndrome (HSES) is a severe disease that affects previously healthy infants of less than 1 year of age and is associated with significant mortality and neurologic morbidity. It is characterized by sudden onset of shock, convulsions and coma, bleeding due to severe coagulopathy, fever, diarrhea, metabolic acidosis, and hepatorenal dysfunction. Central nervous system involvement with recurrent seizures and brain edema is the most common cause of high mortality and neurological morbidity. In this report, we describe four patients of HSES and review the initial and follow-up neurological features, electroencephalography findings, and the results of neuroradiological examinations of this catastrophic illness.