The longest reported survival of a child with McCune-Albright syndrome and a severe early presenting phenotype consisting of neonatal cushing syndrome, cardiac and liver diseases.

Neonatal cushing syndrome (NCS) is a rare disease that results from prolonged exposure to high cortisol levels. McCune-Albright syndrome (MAS) is an exceedingly rare genetic disorder characterized by cafe-au-lait skin spots, bone fibrous dysplasia and multiple endocrinopathies. We describe a case of a premature neonate with Intrauterine Growth Retardation who presented with hypercortisolemia, neonatal transaminitis and cardiac dysfunction. Further evaluation revealed significant bilateral adrenal hyperplasia leading to the diagnosis of NCS as part of MAS. Despite maximum medical therapy, including metyrapone, the baby's refractory hypertension, hyperglycemia and persistent failure to thrive (weight of 1.4 kg at corrected age 38 weeks) necessitated bilateral adrenalectomy. This case did not initially demonstrate the classic MAS triad, notably, the absence of skeletal manifestations. There has been no previous description of a baby who has had all the early life-threatening features present and survived beyond 18 months. This case highlights the severity of the phenotype and the challenges involved in diagnosing and treating NCS and MAS in neonates.

Colonoscope "Looping" During Ileo-Colonoscopy in Children is Significantly Different to that Observed in Adult Practice.

OBJECTIVES: Ileo-colonoscopy (IC) can be technically challenging because of unpredictable colonoscope loop formation. Aims of this study were to assess the risk of loop formation and to attempt to understand which factors were likely to predispose to which subtype of loop. METHODS: Prospective study conducted on children referred for an IC at Sheffield Children's Hospital. Presence and type of loop was objectively assessed using the magnetic endoscope imaging tool. RESULTS: Three hundred procedures were prospectively evaluated. Only 9% of paediatric ICs were loop-free. Alpha loops were the most common loop in children older than 5, whereas reverse alpha loops and a wider variety of complex and repetitive loops were observed in younger patients. Once a specific type of loop has formed, the risk of re-looping in a different way or in a different position of the colon is reduced. Left lateral starting position was found to increase the risk of reverse alpha loops and re-looping. Challenging loops, such as reverse alpha, were more frequent in males. Higher body mass index (BMI) was associated with an increased risk of alpha and deep transverse loops formation, while lower BMI with a higher incidence of reverse alpha and N loop. Loop formation did not prevent 100% ileal intubation. CONCLUSIONS: This study represents the first attempt to describe loop formation according to patient characteristics in a large paediatric series. Further studies are needed in order to establish if these findings could be helpful in simplifying the execution of IC procedures in children and facilitate the learning curve during endoscopy training programs.

Diagnosis and management of children with Blue Rubber Bleb Nevus Syndrome: A multi-center case series.

BACKGROUND: Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare, severe, sporadically occurring disorder characterized by multiple venous malformations. AIMS: To present and analyze a case series of pediatric patients with BRBNS and to describe diagnostic approaches and management options applied. PATIENTS AND METHODS: Multicenter, retrospective study, evaluating the diagnosis and management of children with BRBNS. RESULTS: Eighteen patients diagnosed with BRBNS were included. Cutaneous venous malformations were observed in 78% and gastrointestinal venous malformations in 89%. Lesions were also found in other organs including muscles, joints, central nervous system, eyes, parotid gland, spine, kidneys and lungs. Gastrointestinal lesions were more common in the small intestine than in stomach or colon. The management varied significantly among centers. Endoscopic therapy and surgical therapy alone failed to prevent recurrence of lesions. In younger children and in patients with musculoskeletal or other organ involvement, sirolimus was used with 100% success rate in our series (5 patients treated) although poor compliance with subtherapeutic sirolimus trough levels led to recurrence in a minority. CONCLUSIONS: Considering the multi-organ involvement in BRBNS, diagnosis and management requires a multidisciplinary approach. The treatment includes conservative, medical, endoscopic and surgical options. Prospective multicenter studies are needed to identify the optimal management of this rare condition.

Management of hyperplastic gastric polyp following upper gastrointestinal bleeding in infant with Menkes' disease.

We report a case of an infant with Menkes' disease (MD) presented at the age of five months, with coffee ground vomiting, melaena with a significant drop of haemoglobin. Urgent endoscopic assessment revealed a friable bleeding trans-pyloric multi-lobulated sessile polyp. Due to further significant upper gastrointestinal bleeding, polypectomy occurred. Endoscopic mucosal resection was performed with a grasp-and-snare technique using a dual channel operating gastroscope. Haemostasis was achieved by application of argon plasma coagulation where required. No perforation occurred. Repeated debridement was required 6 wk after which the growth was excised completely with no further blood transfusion required after that procedure. Histological examination confirmed ulcerated and inflamed hyperplastic polyp. We discuss our endoscopic technique and discuss the reported gastrointestinal manifestation of MD in the literature.

Effectiveness of Double-balloon Enteroscopy-facilitated Polypectomy in Pediatric Patients With Peutz-Jeghers Syndrome.

Sizable small-bowel (SB) polyps in Peutz-Jeghers syndrome (PJS) pose a high risk for intussusception, often necessitating laparotomy and intraoperative enteroscopy. This series examines the effectiveness of double-balloon enteroscopy (DBE) facilitated polypectomy for pediatric patients with PJS. Prospective analysis of collected data (6 years) on all patients with PJS referred for DBE-facilitated SB polypectomy at a pediatric tertiary-referral center. A total of 16 pediatric patients with PJS were referred for DBE-facilitated SB polypectomy. Twenty-two DBEs were performed. Large polyps (≥1 cm) were confirmed in 14 patients. Successful clearance of large SB polyps by DBE or laparoscopically assisted DBE (Lap-DBE) was achieved in all patients. One patient experienced post-Lap-DBE pelvic abscess. All other patients remained asymptomatic and intervention free throughout follow-up (median 26 months). This series demonstrates that DBE-facilitated polypectomy is an effective therapeutic option in pediatric patients with PJS. It should be considered at an early age where possible.

Endoscopic management of acute gastrointestinal bleeding in children: Time for a radical rethink.

Currently we are no nearer than 10 or 20years ago providing a safe, adequate, and effective round-the-clock endoscopic services for acute life-threatening gastrointestinal bleeding in children. Preventable deaths are occurring still, and it is a tragedy. This is owing to a number of factors which require urgent attention. Skill-mix and the ability of available endoscopists in the UK are woeful. Manpower is spread too thinly and not concentrated in centers of excellence, which is necessary given the relative rarity of the presentation. Adult gastroenterologists are increasingly reticent regarding their help in increasingly litigious times. Recent work on identification of those children likely to require urgent endoscopic intervention has mirrored scoring systems that have been present in adult circles for many years and may allow appropriate and timely intervention. Recent technical developments such as that of Hemospray® may lower the threshold of competency in dealing with this problem endoscopically, thus allowing lives to be saved. Educational courses, mannequin and animal model training are important but so will be appropriate credentialing of individuals for this skill-set. Assessment of competency will become the norm and guidelines on a national level in each country mandatory if we are to move this problem from the "too difficult" to the "achieved". It is an urgent problem and is one of the last emergencies in pediatrics that is conducted poorly. This cannot and should not be allowed to continue unchallenged.