Aim Chylothorax is a rare but life-threatening condition in newborns. Octreotide, a somatostatin analogue, is widely used as a therapeutic option in neonates with congenital and acquired chylothorax, but its therapeutic role has not been clarified yet. Methods We performed a systematic review to assess the efficacy and safety of octreotide in the treatment of congenital and acquired chylothorax in newborns. Comprehensive research, updated till 31 October 2017, was performed by searching in PubMed, MEDLINE, EMBASE and the Cochrane Central Register of Controlled Trials (CENTRAL) databases using the MeSH terms 'octreotide' and 'chylothorax'. Both term and preterm newborns with congenital or acquired chylothorax treated with octreotide within the 30th day of life were included. Octreotide treatment was considered effective if a progressive reduction/ceasing in drained chylous effusion occurred. Results A total of 39 articles were included. Octreotide was effective in 47% of patients, with a slight but not significant difference between congenital (30/57; 53.3%) and acquired (9/27; 33.3%) chylothorax (P = 0.10). Marked variation in octreotide regimen was observed. The most common therapeutic scheme was intravenous infusion at a starting dose of 1 μg/kg/h, gradually increasing to 10 μg/kg/h according to the therapeutic response. Side effects were reported in 12 of 84 patients (14.3%). Only case reports were included in this review due to the lack of randomised controlled trials. Conclusion Octreotide is a relatively effective and safe treatment option in neonates with chylothorax, especially for the congenital forms.

Octreotide for congenital and acquired chylothorax in newborns: A systematic review.

Bezoars are intraluminal conglomerates of indigestible foreign materials that accumulate in the gastrointestinal (GI) tract. They consist of vegetable or fruit fibers, hairs or other substances; accordingly, bezoars are classified as phytobezoars, trichobezoars, pharmacobezoars, etc. Although sometimes asymptomatic, bezoars may cause serious symptoms, such as abdominal discomfort or pain, dysphagia, hematemesis, or even life-threatening entities (GI bleeding, obstruction or perforation). Current technological applications have contributed to the diagnostic and therapeutic approach to these masses, mainly through endoscopic techniques able to diagnose, fragment and extract bezoars, as well as laparoscopic and other surgical modalities that may be used to treat serious complications. Although bezoars were described centuries ago and the term was officially introduced in the mid nineties by Quain, they are still a demanding pathological entity. Their pathophysiology, accurate and prompt diagnosis, as well as successful and minimally invasive treatment, remain under investigation and see continuous progress. Current advances in these challenging areas are discussed in this review, which attempts to present an in-depth study of bezoars along with the well-established modalities and techniques.

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Pathophysiological and clinical aspects of the diagnosis and treatment of bezoars.

In 1993, Jabs et al. were the first to describe a genetic origin of craniosynostosis. Since this discovery, the genetic causes of the most common syndromes have been described. In 2015, a total of 57 human genes were reported for which there had been evidence that mutations were causally related to craniosynostosis. Facilitated by rapid technological developments, many others have been identified since then. Reviewing the literature, we characterize the most common craniosynostosis syndromes followed by a description of the novel causes that were identified between January 2015 and December 2017.

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Genetic Causes of Craniosynostosis: An Update

Background: To characterize cathepsin K (CTSK) mutations in a group of patients with pycnodysostosis, who presented with either short stature or atypical fractures to pediatric endocrinology or dysmorphic features to pediatric genetics clinics. Methods: Seven exons and exon/intron boundaries of CTSK gene for the children and their families were amplified with PCR and sequenced. Sixteen patients from 14 families with pycnodysostosis, presenting with typical dysmorphic features, short stature, frequent fractures and osteosclerosis, were included in the study. Results: We identified five missense mutations (M1I, I249T, L7P, D80Y and D169N), one nonsense mutation (R312X) and one 301 bp insertion in intron 7, which is revealed as Alu sequence; among them, only L7P and I249 were described previously. The mutations were homozygous in all cases, and the families mostly originated from the region where consanguineous marriage rate is the highest. Patients with M1I mutation had fractures, at younger ages than the other pycnodysostosis cases in our cohort which were most probably related to the severity of mutation, since M1I initiates the translation, and mutation might lead to the complete absence of the protein. The typical finding of pycnodysostosis, acroosteolysis, could not be detected in two patients, although other patients carrying the same mutations had acroosteolysis. Additionally, none of the previously described hot spot mutations were seen in our cohort; indeed, L7P and R312X were the most frequently detected mutations. Conclusions: We described a large cohort of pycnodysostosis patients with genetic and phenotypic features, and, first Alu sequence insertion in pycnodysostosis.

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Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features

A gastric bezoar is a compact mass of indigestible foreign materials that accumulate and consolidate in the stomach; however, it can be found in other sites of the gastrointestinal tract. The causative manner of this condition is complex and multifactorial. The main purpose of the review was to raise awareness among clinicians, particularly gastroenterologists, that patients with certain risk factors or comorbid conditions are predisposed to gastric bezoar formation. Early diagnosis and prompt intervention are crucial to avoid bezoar-induced complications. Upper gastrointestinal endoscopy is the standard diagnostic and therapeutic method for gastric bezoars. However, for large size bezoars, surgical intervention is needed.

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Upper Gastrointestinal Manifestation of Bezoars and the Etiological Factors: A Literature Review.

Giant choriangiomas are rare placental tumours, associated with a high prevalence of pregnancy complications and a poor perinatal outcome. Neonatal consequences include severe microangiopathic haemolytic anaemia, thrombocytopaenia and hydrops. The associated high perinatal death rate (30–40%) has led to a number of prenatal therapeutic interventions with limited success in most cases. The authors present a case of non-immune fetal hydrops caused by a giant chorioangioma, diagnosed at 27 weeks of gestational age. Despite tocolytic therapy, the baby was born prematurely (28 weeks of gestational age) and required transfusion of blood derivatives, intensive phototherapy and exchange transfusion. She had an uncomplicated recovery and was discharged home in the second month of life. The authors emphasise the need to consider chorioangioma as a cause of non-immune fetal hydrops and microangiopathic haemolytic anaemia.

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Giant placental chorioangioma: a rare cause of fetal hydrops

Lactobezoars are a type of bezoar composed of undigested milk and mucus. The aetiology is likely multifactorial, being classically described in association with pre-term, low-birth weight infants fed with hyperconcentrated formula. The authors present a case of lactobezoar recurrence in a pre-term infant with oesophageal atresia. To our knowledge, this is the first report of recurrence of lactobezoar.

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Recurrent gastric lactobezoar in an infant

Idiopathic congenital chylothorax is defined as an abnormal accumulation of lymphatic fluid within the pleural space and is a relatively rare condition. It is a cause of progressive respiratory distress with nutritional and immunological consequences. Treatment of congenital chylothorax has been conservative management and cases unresponsive usually require surgery. We report a case of idiopathic congenital chylothorax treated with octreotide (a somatostatin analogue), avoiding surgery after failed conservative medical treatment. The patient promptly improved after initiation of endovenous octreotide treatment (10 µg/kg/h) with no observed side effects.

Idiopathic congenital chylothorax treated with octreotide

Xanthogranulomatous pyelonephritis (XGPN) is a rare, severe and atypical form of chronic pyelonephritis. It is characterised by destruction of the renal parenchyma and replacement with a chronic inflammatory infiltrate and lipid-laden macrophages resulting in a non-functional kidney. The authors report a case of a 5-year-old boy presented with a history of abdominal pain, malaise, anorexia and weight loss for 2 months. Physical examination revealed a large flank mass and the child was directed to the oncology unit on suspicion of renal tumour. Based on clinical examination and imaging, the presumptive diagnosis of XGPN of the left kidney was made. A left transperitoneal nephrectomy was performed and the histology confirmed the diagnosis. Although rare, XGPN is a clinically important entity that should be considered in the differential diagnosis of an atypical-appearance renal mass in paediatric age.

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Xanthogranulomatous pyelonephritis presenting as a pseudotumour in a 5-year-old boy

Accidental bony injuries are common in children. Children may also present with bony injuries following non-accidental injuries. Pathological fractures, though extremely rare, are an important entity and constitute fractures that occur in abnormal bones, usually after minor trauma. Pycnodysostosis is a rare skeletal dysplasia characterised by a clinical phenotype that includes short stature, skull deformities, osteosclerosis, acroosteolysis and bone fragility. Often the disease is diagnosed at an early age as a result of the investigation of short stature. However, the diagnosis is sometimes delayed and must be considered in any child with a history of recurrent or multiple bone fractures and dysmorphic features. The purpose of this report is to describe the clinical, radiological and genetic issues of a 9-year-old girl with a long history of multiple bone fractures. She had been subjected to safeguarding investigations previously and was identified to have dysmorphic features diagnosed as pycnodysostosis associated with craniosynostosis.

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José Luis Nunes

Papers

Giant placental chorioangioma: a rare cause of fetal hydrops

Recurrent gastric lactobezoar in an infant

Idiopathic congenital chylothorax treated with octreotide

Xanthogranulomatous pyelonephritis presenting as a pseudotumour in a 5-year-old boy

A child with bone fractures and dysmorphic features: remember of pycnodysostosis and craniosynostosis