Role of Octreotide in Pediatric Gastrointestinal Bleeding Secondary to Angiodysplasia in Children With Right Heart Failure

Objectives: Angiodysplasia (AD) is a relatively uncommon cause of gastrointestinal bleeding in children and may be seen in right heart failure. Octreotide has been used successfully in adult patients with gastrointestinal bleeding due to ADs. Methods: We describe 2 patients who had congenital heart disease with right heart failure and gastrointestinal bleeding from AD. Results: AD lesions were documented on traditional endoscopy and capsule endoscopy. Bleeding resolved after initiation of IV octreotide and did not recur on subcutaneous octreotide during the 2-year follow-up period. Conclusions: Based on the successful outcomes in the 2 patients, a trial of octreotide may be considered in pediatric patients who present with gastrointestinal bleeding secondary to AD

Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation

Walker Warburg syndrome (WWS) lies at the severe end of the spectrum of the congenital muscular dystrophies. WWS is a congenital disorder of the O-glycosylation that disrupts in the post-translation modification of dystroglycan proteins. WWS is characterized by the involvement of the central nervous system and rarely by multisystem involvement. Next-generation sequencing discovered that multiple genes are associated with this disorder. FKTN is the rarest cause of WWS. We describe a clinical-autopsy report of a molecularly- confirmed WWS case presenting with ventriculomegaly, agenesis of the corpus callosum with a novel phenotype of Dandy-Walker malformation and unilateral multi-cystic kidney. The whole-exome sequencing confirmed a homozygous variant (c.411C>A) in the FKTN gene with a premature termination codon. This case emphasizes the importance of detailed postnatal phenotyping through an autopsy in any pregnancy with antenatally identified malformations. Obstetricians, pediatricians as well as fetal medicine experts need to counsel the parents and focus on preserving the appropriate sample for genetic testing. WWS, though rare deserves testing especially in the presence of positive family history. Dandy-Walker malformation is a novel feature and expands the phenotypic spectrum

Varied Presentations and Comorbidities in Pediatric Autoimmune Pancreatitis

Autoimmune pancreatitis (AIP) is a chronic inflammatory condition rarely reported in children. In 2018, to standardize the approach to AIP, INternational Study Group of Pediatric Pancreatitis: In search for a cuRE (INSPPIRE) defined AIP, outlined the clinical course, and developed diagnostic and therapeutic recommendations. We performed a retrospective review of cases at our institution from January 1, 2016, to June 1, 2019, and compared their presentations with the INSPPIRE guidelines. Our patients showed variable laboratory, radiographic, and histologic findings, highlighting the difficulty in diagnosing AIP. Histologic samples were obtained in our patients due to diagnostic uncertainty, which ultimately confirmed the diagnosis. One patient was diagnosed with autoimmune hepatitis coexistent with AIP, which has not been previously described in the pediatric population. Exocrine and endocrine complications of AIP were also noted. In all cases, symptoms improved following treatment, and decompression of the common bile duct was seen on repeat imaging. Autoimmune pancreatitis (AIP) is a chronic inflammatory condition rarely reported in children. Cases of AIP at a single academic center were reviewed from January 01, 2016, to June 01, 2019. The aim of this report is to describe differences in presentation and diagnostic considerations of pediatric AIP while illustrating comorbid conditions that can occur

Torsion of para-ovarian cyst: A cause of acute abdomen

Torsion of uterine adnexa is an important cause of acute abdominal pain. Torsion of ovarian masses is quite common and isolated torsion of fallopian tube has also been reported in literature. However, torsion of para ovarian cyst is a very rare. We report a rare case of twisted para ovarian cyst resulting in secondary torsion of the fallopian tube. Torsion of fallopian tube and para ovarian cyst are usually seen in the reproductive age group. Physicians need to maintain a high index of suspicion for this uncommon and often difficult to diagnose cause of abdominal pain