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Congenital lung disease comes to the attention of the surgical pathologist through lung biopsy or excision of a lung lobe. The two most frequent clinical indications are removal of a mass, often detected antenatally, or investigation of difficulty in ventilation or oxygenation. The diagnostic possibilities in each instance are different. The mass is most commonly a cystic airway malformation, but a limited number of rare neoplasms enters the differential diagnosis. Biopsy in the case of difficulty in ventilation most often shows delayed alveolar development, but surfactant protein disorder and a small number of lethal developmental abnormalities must be excluded. This review offers a conceptual framework to the general histopathologist confronted with such specimens and presents an approach to assessment in order to achieve the maximum information from the specimen. Correlation with clinical features and radiology is vital.

Amelanotic/hypomelanotic variant of cellular blue naevus (CBN) can present a challenge for the clinician and histopathologist. We report a case of amelanotic/hypomelanotic variant of CBN that presented as a painless scrotal swelling in a child. We review the literature on amelanotic/hypomelanotic CBN, the key histological features and important differential diagnoses.

Examination of the malformed heart requires sequential segmental analysis in which the three paired segments of the heart (atria, ventricles, great arteries) are recognized by their most constant feature. Their connections to each other are established with certainty and associated abnormalities are described. The basic anatomy of the commonest congenital heart defect - ventricular septal defect is described in detail. A knowledge of the normal anatomy of the interventricular septum makes understanding the variation in the morphology of ventricular septal defect easier to understand. The paediatric aspects of cardiomyopathy are described with particular emphasis on those conditions that have a particular relevance to childhood: histiocytoid cardiomyopathy, mitogenic cardiomyopathy, mitochondrial cardiomyopathy, ventricular non-compaction and cardiomyopathy associated with muscular dystrophy and Friedreichs ataxia.

Background Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable heart muscle disease that causes sudden cardiac death in the young. Inflammatory myocardial infiltrates have been described at autopsy and on biopsy, but there are few data on the presence of myocarditis in living patients with ARVC using non-invasive imaging techniques. FDG-PET is a validated technique for detecting myocardial inflammation in clinically suspected myocarditis. We aimed to determine the prevalence of myocardial inflammation in patients with ARVC using 18F-fluorodeoxyglucose positron emission tomography (FDG-PET). Methods and results We performed a retrospective analysis of a single centre cohort of patients with ARVC referred for FDG-PET scans between 2012 and 2017 for investigation of symptoms or suspected device infection. Sixteen patients (12 male; age 42 ± 13 years) with a definite diagnosis of ARVC were identified. Seven had positive FDG-PET scans, two of whom had cardiac sarcoidosis on endomyocardial biopsy. Of the remaining five, two carried pathogenic desmoplakin mutations. FDG uptake was found in the left ventricular myocardium in all cases. One patient also had right ventricular uptake. Conclusion In this exploratory study, we show that some patients with ARVC have evidence for myocardial inflammation on FDG-PET, suggesting that myocarditis plays a role in disease pathogenesis.

Background Congenital hyperinsulinism is a rare disease and patients not responding to medical treatment need near-total or partial pancreatectomy, dependent on whether they have diffuse or focal hyperinsulinism, respectively. While laparoscopic technique for distal and for total pancreatectomy has been developed, minimally invasive resection of the pancreatic neck with pancreatico-jejunostomy has not been reported in children before. Case summary A 2-year old boy suffered from congenital hyperinsulinism, which was refractory to high-dose medical treatment. The nuclear-medicine scan revealed a focal lesion of the pancreatic neck, hence partial pancreatectomy was indicated. On laparoscopy, a slightly prominent tissue mass was apparent in the area of the pancreatic neck. We proceeded with laparoscopic mobilisation of the pancreas from the underlying splenic vessels and resected the pancreatic neck and adjacent parts of the body and the head. After macroscopic resection of the mass, the patient's intraoperative blood glucose levels increased to a point where insulin had to be substituted. To drain the pancreatic tail, we formed an end-to-side anastomosis in the proximal Jejunum and brought the open end to the pancreatic tail and performed a laparoscopic pancreatico-jejunostomy. The patient tolerated the procedure well and had no remaining signs or symptoms of hyperinsulinism. Conclusion This is the first report of a laparoscopic middle-segmental pancreatic resection with laparoscopic assisted Roux-en-Y pancreatico-jejunostomy in a child. For benign pancreatic lesions proximal to the body and tail, the described minimally invasive technique should be considered.

Background Noninvasive imaging autopsy alternatives for fetuses weighing

Normal gastrointestinal function requires an intact enteric musculature and enteric nervous system. There is a group of disorders in which abnormalities of either enteric nerves or muscle, or both, lead to clinical features of intestinal obstruction in the absence of physical obstruction – chronic intestinal pseudo-obstruction. These disorders may be congenital or acquired. The best known of the congenital enteric nervous system disorders is Hirschsprung disease where there is absence of nerve cells in the distal colon. Others include ganglioneuromatosis. Muscular disorders include degenerative leiomyopathy and mitochondrial disorders. The nervous or muscular system may also be affected secondarily in many systemic disorders. Surgical intervention is frequent in cases of chronic intestinal pseudo-obstruction and yields specimens for pathological examination. The pathological investigation of these specimens may yield only non-diagnostic features, but care is needed not to overlook those cases where a specific diagnosis may be made on the basis of the histopathology.

Background/Purpose In congenital hyperinsulinism (CHI) of infancy, the use of preoperative fluorine-18-l-3,4-dihydroxyphenylalanine–positron emission tomography–computed tomography ( 18 F-DOPA-PET-CT) scan has recently been reported. The aim of this study was to evaluate the accuracy of this technique in discriminating between diffuse and focal CHI and the anatomical localization of focal lesions. Methods Between 2006 and 2010, 18 F-DOPA-PET scan was performed in 19 children with CHI (median age, 2 months; range, 1-12 months) who were not responding to medical therapy and underwent laparoscopic or open surgery. The findings of 18 F-DOPA-PET scan were correlated with histology. Results In 5 children, 18 F-DOPA-PET scan showed diffuse pancreatic uptake, confirmed at histology and supporting the genetic suspicion of diffuse disease. In 14 children, 18 F-DOPA-PET scan indicated focal pancreatic uptake, which corresponded to histology. However, in 5 patients (36%), 18 F-DOPA-PET scan was inaccurate in defining the location of the lesion (n = 3), size of the lesion (n = 1), or both location and size (n = 1), leading to an inaccurate pancreatic resection. Conclusions Fluorine-18-l-3,4-dihydroxyphenylalanine–positron emission tomography–computed tomography scan discriminates between diffuse and focal forms of CHI. In focal forms, 18 F-DOPA-PET scan is useful in 2/3 of patients in defining the site and dimension of the focal lesion. Intraoperative histologic confirmation of complete focal lesion resection is needed.

This study presents four patients who underwent bone marrow transplantation and subsequently developed pleuroparenchymal fibroelastosis, hitherto reported as an idiopathic condition. All presented clinically with pneumothorax and subpleural fibrosis on high-resolution computed tomography. In addition to the expected obliterative bronchiolitis, histopathology showed coexistent subpleural changes, and the relationship of pathology in multiple anatomic compartments in post bone marrow transplantation pulmonary disease is discussed.

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Background & Aims: Intractable ulcerating enterocolitis of infancy (IE) is an uncommon, autosomal-recessive, and devastating inflammatory bowel disorder that arises as a consequence of a poorly defined underlying immunologic disorder. Infants with IE suffer from recurrent severe oro-anal disease and an enterocolitis that is unresponsive to conventional immunosuppressive therapy and requires early pancolectomy to control the severity of the disease. Despite such aggressive treatment these individuals remain at high risk of Epstein–Barr virus–driven lymphomatous proliferations, including non-Hodgkin's lymphoma. The underlying genetic basis for this disease remains undefined. This report aims to describe the use of bone marrow transplantation as a treatment for this condition. Methods: This was a case series report. Results: We describe the successful treatment of IE by allogeneic bone marrow transplantation in 2 brothers, now aged 7 and 11 years, one of whom had developed an Epstein–Barr virus–related monomorphous B-lymphocyte lymphoproliferative disorder. This treatment has resulted in prolonged clinical remission in both boys and abrogated the need for aggressive immunosuppression. Conclusions: Bone marrow transplantation can be used for the treatment of intractable ulcerating enterocolitis of infancy, which may support a role in other intractable inflammatory bowel conditions in the pediatric population.

Isolated fetal hydrothorax is an uncommon finding on routine prenatal ultrasound and is associated with a variable prognosis. We believe this is the first report of a patient whose antenatal hydrothorax was associated with both congenital diaphragmatic hernia and congenital pulmonary lymphangiectasia. This rare combination caused significant problems in diagnosis and subsequent treatment.

Background Congenital cardiac malformations are commonly seen at perinatal autopsy. Accurate diagnosis can be challenging in small, macerated fetuses. The diagnostic accuracy of post-mortem MRI is diminished below 18 gestational weeks; however, micro-CT can provide micrometre resolution images but has not been evaluated for human diagnostic accuracy. We hypothesised that micro-CT could provide useful diagnostic information in fetal congenital heart disease and compared it with the gold standard of autopsy. Methods Referrals to Great Ormond Street Hospital were prospectively included. Ex-vivo fetal hearts underwent micro-CT examination. 21 indices normally assessed at autopsy were evaluated for each heart at both micro-CT and autopsy in a single-masked fashion. All parents provided written consent for both autopsy, including post-mortem imaging, and research. The study was part of a larger study given ethics approval (IRAS ID 13942, R&D 09MH01). Findings We examined six fetal hearts including five with complex congenital cardiac malformations (17–23 weeks' gestation). Heart weights ranged between 1·1 g and 5·3 g (median 4·6 g). All specimens demonstrated excellent internal contrast at micro-CT examination, and the correct overall diagnosis was made from micro-CT data in all cases. There was agreement for 114 of 126 indices assessed on micro-CT and autopsy dissection (overall concordance 95·8% (95% CI 90·5–98·2). Micro-CT was particularly useful in the assessment of ventricular morphology in macerated fetuses. Micro-CT examination for diagnosis of complex congenital heart disease had a sensitivity of 85·2% (95% CI 67·5–94·1) and specificity of 98·9% (94·1–99·8). Interpretation Our preliminary study shows that micro-CT can provide diagnostically accurate three-dimensional volumes of complex congenital fetal heart disease. This approach potentially represents a substantial advance in post-mortem imaging and confirms the potential of this technology for non-invasive examination of small fetuses and organs. Centres that do not have specialist paediatric cardiac pathology expertise might especially benefit. Limitations include the small study size. Future studies should also include in-vivo post-mortem evaluation. Funding None.