Hepatocyte nuclear factor 1 beta (HNF1B) related disease is associated with multisystem involvement, most commonly renal developmental disorders and diabetes alongside a spectrum of other clinical features. With the increasing availability of genomic testing, paediatricians across multiple specialties are more frequently encountering children with pathogenic HNF1B variants. This review provides a practical guide for paediatricians on the management and long-term follow-up of affected children.
Cerebral palsy (CP) is the most common cause of childhood physical disability, affecting approximately 1 in 400 UK children. Although defined as a non-progressive neurodevelopmental disorder arising from injury to or maldevelopment of the fetal or infant brain, CP is best understood as a clinical description rather than a definitive diagnosis, and a significant proportion of children labelled with CP are subsequently found to have an alternative-and often treatable-condition. This 15-min consultation offers paediatricians a practical framework for recognising when a child's presentation may not be CP. Structured around the dominant motor pattern-spasticity, dyskinesia/dystonia, ataxia, and early encephalopathy or seizures-we review key genetic, metabolic, structural and neurodegenerative mimics, their distinguishing clinical features and initial investigations, illustrated through three clinical vignettes.
Delayed puberty in girls most commonly presents as absent breast development by age 13 years and occurs less frequently than delayed puberty in boys. Constitutional delay of growth and puberty (CDGP) is the most common individual diagnosis but pathological causes collectively account for a substantial proportion of cases. For the general paediatrician, a practical assessment framework should include focused history, auxology, Tanner staging, first-line investigations, recognition of red flags and timely referral to paediatric endocrinology. Girls with absent thelarche by age 13 years, absent menarche by age 15 years or no menarche more than 3 years after thelarche require specialist assessment. This article provides a structured clinical guide for general paediatricians assessing girls with delayed puberty.
Neonates born with congenital vertical talus ('rocker-bottom foot') are challenging to diagnose and manage. The immediate management is generally based on assessing for Edwards syndrome (trisomy 18) or other similar severe life-limiting chromosomal disorders when there are dysmorphic features suggestive of a genetic syndrome, and no clear neurological focus such as a neural tube defect or spinal muscular atrophy disorder. Often the initial fluorescent in situ hybridisation genetic testing is reported as normal, appearing to exclude a trisomy diagnosis. We use two similar neonatal case scenarios with different diagnoses to discuss the next steps in genetic testing and the use of microarray, karyotyping and whole exome sequencing tools in managing these complex cases.
This article describes a case of warm autoimmune haemolytic anaemia (w-AIHA) in a 16-month-old refractory to first-line treatment. W-AIHA typically responds to systemic corticosteroids. Here, management proved challenging with re-emergence of haemolysis during initial steroid course. Rituximab offered a turning point, demonstrating the utility of targeted anti-CD20 antibody therapy in achieving a sustained haematological response. The patient's clinical course was not without further complications potentially attributable to treatments administered. This paper reviews the management of w-AIHA, beyond steroid therapy, with an additional focus on supportive care measures.
IntroductionTopical oestradiol gel is now widely used in hormone replacement therapy (HRT), but the risk of inadvertent secondary transfer to children is under-recognised. While accidental exposure to testosterone gels has been documented, oestradiol gel transfer as a cause of precocious puberty in prepubertal girls is rare.We undertook a 20-year literature review and discuss the case of a 5-year-old girl presented with Tanner stage 3 breast development, pubic hair stage 2, growth acceleration and mood changes. Laboratory evaluation revealed markedly elevated oestradiol levels with suppressed gonadotrophins, consistent with peripheral precocious puberty. Bone age was advanced by 4 years 6 months. Imaging, karyotype, endocrine and dermatology investigations excluded central precocious puberty, ovarian or adrenal tumours and McCune-Albright syndrome. History, previously not disclosed, revealed daily co-sleeping with her mother, who had been applying oestradiol gel to her upper arms for 18 months as part of HRT. No other oestrogen sources were identified. Maternal oestradiol gel was discontinued and replaced with a transdermal patch. The child's oestradiol levels normalised and pubertal signs regressed over subsequent months.This review highlights a rare but important cause of peripheral precocious puberty due to unintentional transfer of topical oestradiol gel through routine parent-child contact, including co-sleeping. As topical hormone therapies become increasingly common, clinicians must counsel patients on safe application practices and consider exogenous hormone exposure in children presenting with unexplained pubertal development. Switching caregivers from gel to patch formulations can reverse hormone excess in exposed children.
A 4-year-old boy presented with fever and unilateral neck swelling, initially treated as bacterial lymphadenitis with intravenous antibiotics. Over the following days, he developed bilateral non-purulent conjunctival injection, palmar erythema, mucosal changes, raised liver transaminases and rising inflammatory markers. The evolving picture led to a diagnosis of Kawasaki disease in the second week of illness.Cervical lymphadenitis is a common paediatric presentation, with infective aetiology being the most common. However, inflammatory conditions such as Kawasaki disease and haematological malignancy can present similarly. Among these, 'Node-first' Kawasaki disease, in which cervical lymphadenopathy precedes other features, while a recognised phenotype, is a rarer presentation and therefore a diagnostic pitfall. The similarity to infective lymphadenitis, together with overlapping laboratory and imaging findings, may delay definitive treatment and increase the risk of complications. An acute presentation of cervical lymphadenitis in a febrile child with inadequate or no response despite antibiotics and persistent high inflammatory markers should raise suspicion of possible alternative diagnoses like Kawasaki disease.
Neurodevelopmental delay is a common clinical presentation to paediatricians. For some children, there may be an immediately recognisable likely cause such as a severe perinatal infection or hypoxia. For others, the cause may not be obvious, leaving open questions of recurrence risk, developmental prognosis, expected medical and mental health needs and optimal management. Although some children will remain undiagnosed, many will have an underlying genetic diagnosis. In this article, we highlight recent advances in the investigation of children with developmental delay with a particular focus on genomics. We advocate performing next-generation sequencing-based tests as a first-line investigation, alongside basic biochemical and metabolic tests, with an aim for greater equity of testing and more rapid diagnosis.
Referrals for children presenting with social, communication and behavioural differences have risen sharply in recent years, creating unprecedented demand for autism assessments. Waiting times now frequently exceed 2 years, placing considerable strain on diagnostic services and families. While autism is common, many children presenting with these differences have alternative or co-occurring explanations that require timely recognition and tailored support. This article presents a practical child-centred framework to guide clinicians involved in early assessment or referral decision-making when diagnostic uncertainty exists. It also supports earlier and more equitable access to strengths and needs informed care, regardless of diagnostic outcome.
There is a growing recognition that perinatal palliative care is appropriate whenever there is uncertainty about a baby's survival outcome. Many aspects of this care can, and should, be provided by existing perinatal teams, with support from community and specialist services where required. However, delivering perinatal palliative care can be practically, ethically and emotionally challenging for professionals without adequate guidance and training. In this best practice paper, we offer practical guidance for clinicians who may be involved in antenatal counselling when a baby has been diagnosed with a potentially life-limiting condition during pregnancy. We consider how to approach antenatal counselling in the context of prognostic uncertainty, how to support families in being able to treasure their pregnancy, how to remain open to all possibilities, how to develop individualised care plans for families and finally consider how to close the consultation and arrange follow-up. Drawing on the parental experience of one of our authors, we explore how to navigate the concept of hope in perinatal consultations.
