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  • 1
    In: Frontiers in Pediatrics, Frontiers Media SA, Vol. 11 ( 2023-4-17)
    Abstract: cardio-facio-cutaneous syndrome is a rare genetic disorder affecting less than 900 people in the world. It is mainly characterized by craniofacial, dermatologic and cardiac defects, but also gastroenterological symptoms may be present, ranging from feeding difficulties to gastroesophageal reflux and constipation. In this report we describe a case of this syndrome characterized by severe feeding and growth difficulties, with a particular focus on the management of gastroenterological complications. Case presentation the patient was a caucasian male affected by Cardio-Facio-Cutaneous syndrome who presented feeding difficulties already a few hours after birth. These symptoms worsened in the following months and lead to a complete growth arrest and malnutrition. He was first treated with a nasogastric tube placement. Subsequently, a laparoscopic Nissen fundoplication and a laparoscopic Stamm gastrostomy were performed. The child was fed with nocturnal enteral nutrition and diurnal oral and enteral nutrition. Eventually the patient resumed feeding validly and regained adequate growth. Conclusion this paper aims to bring to light a complex rare syndrome that infrequently comes to the attention of the pediatricians and whose diagnosis is not always straightforward. We also highlight the possible complications under a gastroenterologic point of view. Our contribution can be helpful to the pediatrician in the first diagnostic suspect of this syndrome. In particular, it is worth highlighting that -in an infant with Noonan-like features- symptoms like suction or swallowing problems, vomiting and feeding difficulties should orient towards the diagnosis of a Cardio-facio-cutaneous syndrome. It is also important to stress that its related gastroenterological issues may lead to severe growth failure and therefore the role of the gastroenterologist is key to manage supplemental feeding and to establish whether a nasogastric or gastrostomic tube placement is necessary.
    Type of Medium: Online Resource
    ISSN: 2296-2360
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2023
    detail.hit.zdb_id: 2711999-3
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  • 2
    In: Journal of Crohn's and Colitis, Oxford University Press (OUP), Vol. 15, No. Supplement_1 ( 2021-05-27), p. S485-S486
    Abstract: Nutrition is involved in several aspects of pediatric IBD, ranging from disease etiology to induction and maintenance of disease. Presence of nutritional deficiencies can influence clinical outcomes and affect the immune system, growth and sexual maturation in children. Few studies assessed the dietary intake of IBD’s pediatric patients and investigated whether their dietary intakes meet the recommended daily allowances (RDA). Methods Children and adolescents with a diagnosis of IBD ( & gt; 1 year) and healthy controls (age and gender matched) were prospectively enrolled in 5 pediatric Italian IBD units. Daily dietary intake in the previous 6 months was assessed using a Food Frequency Questionnaire (FFQ). Energy intake (EI) and macro and micronutrients intakes were compared to the national RDA (LARN) and EI to the predicted total energy expenditure (TEE) based on the Schofield equation. Adherence to the Mediterranean diet was measured through the KIDMED score. Clinical and auxological data were recorded Results 110 IBD subjects and 110 controls (median age±SD: 14,6 ±2,2 and 13,8±2,8 years, p= 0,45) were enrolled. Weight and height z-scores were significantly lower in IBD compared to controls (p= 0,0005 and p=0,036).Weight, height and BMI z-score did not differ between CD and UC. EI (Kcal/day), the EI/RDA ratio (%) and the EI/TEE ratio (%) were significantly lower in IBD compared to the controls (1893 vs 2068 kcal/day, p= 0,009; 71,5% vs 84,7%, p & lt; 0,0001; 79,8% vs 90,8%, p=0,007). When distributing patients by clinical disease activity, the TEE was lower in patients with active disease compared to patients in remission (1850 vs 1915; p=0,039). A significant correlation was not found between age, gender, type of disease, disease activity, and EI/RDA % and EI/TEE %. Total protein and fat intake were lower in children with IBD compared to controls. Conversely the total carbohydrate intake did not differ between IBD patients and controls (median 289,8 vs 311,7 gr/day, p= 0,077) while the percentage of carbohydrate to EI was higher (CHO % : 61 vs 58; p=0,012). Total charbohydrates intake was significantly lower in patients with active disease compared to patients in remission (265.7 vs 294.3 gr/day; p=0,002). IBD patients reported a lower intake of the main dietary micronutrients compared to controls. A poor adherence to the Mediterranean diet was more frequent in IBD children (37.2% vs 22.7%, p= 0,013). Conclusion The diet of Italian children and adolescents with IBD differs substantially from the general pediatric population and frequently does not meet the RDA. Our data suggest the need of an accurate evaluation of the dietary intake and nutritional status in order to prevent nutritional deficiencies and promote health.
    Type of Medium: Online Resource
    ISSN: 1873-9946 , 1876-4479
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2021
    detail.hit.zdb_id: 2389631-0
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