Accessory scrotum with perineal lipoma/hamartoma mimicking penoscrotal pseudoduplication.

Congenital anomalies of the scrotum are thought to be caused by an abnormal migration of the labioscrotal swelling during the embryological process. We report the case of an infant in whom suspected penoscrotal pseudoduplication was apparent at delivery. Imaging using ultrasound scan and magnetic resonance imaging allowed anatomical delineation of the abnormality and the appropriate surgical intervention to be determined. Full surgical correction was done at 4 weeks of age with good outcome. We discuss the differential diagnosis and the management of congenital scrotal abnormalities.

Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.

Short-rib polydactyly syndromes are a heterogeneous group of disorders characterized by narrow thorax with short ribs, polydactyly and often other visceral and skeletal malformations. To date there have only been six reported patients with homozygous and compound heterozygous variants in IFT81, causing a short-rib thoracic dysplasia, with, or without, polydactyly (SRTD19: OMIM 617895). IFT81 is a protein integral to the core of the intraflagellar transport complex B (IFT-B), which is involved in anterograde transport in the cilium. We describe the case of a male infant with compound heterozygous variants in IFT81, who presented with short long bones, a narrow thorax, polydactyly, and multiple malformations. Three novel clinical features are reported including complete situs inversus, micropenis, and rectal atresia, which have not previously been associated with variants in IFT81. We reviewed the literature and identified the most consistent clinical features associated with this rare ciliopathy syndrome. We postulate that dolichocephaly and sagittal craniosynostosis may be associated with this condition, and provide a clue to considering IFT81 as the causative gene when deciphering complex ciliopathies.

Children and young people with diabetes: recognition and management.

Diabetes mellitus (type 1) is an autoimmune condition leading to absolute insulin deficiency resulting in hyperglycaemia and its associated manifestations. It is the most common type of diabetes seen in children, characterised by the 4Ts (toilet, thinner, thirsty, tired). The signs and symptoms can sometimes be non-specific and a delay or missed diagnosis may be catastrophic to the health of the child. Children with an established diagnosis of diabetes often present to the health service with issues such as hypoglycaemia, hyperglycaemia, or diabetic ketoacidosis. The condition requires life-long monitoring and strict control of blood glucose levels with insulin replacement therapy, with the aim of achieving an HbA1c level of 48 mmol/mol. There are often physical and psychosocial issues that arise from the diagnosis leading to poor control. Nurses working in different clinical settings play a vital role in raising suspicions of diabetes leading to timely diagnosis and rapid initiation of treatment. They are best placed to provide essential support in helping children and their families to come to terms with the diagnosis, as well as manage this chronic condition by addressing the common issues that arise in the ongoing management, with a particular emphasis on managing the various day-to-day challenges. Two case studies are included to highlight some of the challenges that nurses may encounter while managing children with diabetes.

Diagnosing and managing invasive meningococcal disease in children.

In developed countries, invasive meningococcal disease (IMD) is a leading infectious cause of death among children. In the UK, Neisseria meningitidis serogroup B is the most frequently identified cause of IMD. This article describes a clinical audit in which early management of IMD is compared with recommendations in the relevant guidelines. It confirms the importance of early recognition of IMD and the need to review previous, less serious diagnoses in ill children. Emergency department nurses play a vital role in the early recognition and management of IMD. Introduction of a meningococcal B vaccine is likely to benefit children in the UK.