Recognition and nursing management of abusive head trauma in children.

Abusive head trauma (AHT) describes an injury to the head caused by a deliberate impact or shaking by a parent or carer. It can cause significant morbidity and mortality in infants, and is most commonly seen in those aged under 2 years. The initial presentation of AHT can include vague symptoms and the correct diagnosis may be missed by health professionals. Subdural haematoma, brain oedema and retinal haemorrhages are well-known features associated with AHT. However, other conditions such as birth trauma, accidental falls in infants and bleeding disorders can all mimic AHT, thus making its recognition difficult. Suspicion of AHT should lead to initiation of safeguarding procedures alongside organising neurological imaging to identify skull fracture and/or intracranial lesions. This article highlights different aspects of the clinical presentation of AHT and its management. Safeguarding and recognising child abuse is vital and requires every member of the multidisciplinary team to remain vigilant. An illustrative case study is included to highlight some of the challenges that health professionals working in different clinical set-ups are likely to come across while managing an infant with AHT.

Nutritional blindness from avoidant-restrictive food intake disorder - recommendations for the early diagnosis and multidisciplinary management of children at risk from restrictive eating.

Avoidant-restrictive food intake disorder (ARFID) is an eating disorder characterised by limited consumption or the avoidance of certain foods, leading to the persistent failure to meet the individual's nutritional and/or energy needs. The disordered eating is not explained by the lack of available food or cultural beliefs. ARFID is often associated with a heightened sensitivity to the sensory features of different types of food and may be more prevalent among children with autism spectrum disorder (ASD) for this reason. Sight loss from malnutrition is one of the most devastating and life-changing complications of ARFID, but difficult to diagnose in young children and those with ASD who have more difficulty with communicating their visual problems to carers and clinicians, leading to delayed treatment and greater probability of irreversible vision loss. In this article, we highlight the importance of diet and nutrition to vision and the diagnostic and therapeutic challenges that clinicians and families may face in looking after children with ARFID who are at risk of sight loss. We recommend a scaled multidisciplinary approach to the early identification, investigation, referral and management of children at risk of nutritional blindness from ARFID.

Thalamic infarct presenting as apparent life-threatening event in infants.

UNLABELLED: Thalamic infarction with distinct manifestations is well-described in adults but less well-delineated in children. We report two infants who presented with an apparent life-threatening event (ALTE) with very early magnetic resonance imaging (MRI) demonstrating a unilateral thalamic infarction. Subsequent MRI demonstrated bilateral changes in the brain stem and basal ganglia, which were in keeping with profound hypoxic ischaemic injury. We propose the thalamic infarction to be the primary event precipitating a profound hypoxic ischaemic injury as an alternative explanation to the neuroimaging observation. CONCLUSION: Thalamic infraction may have a causal role in ALTE. Early and appropriate neuroimaging is required to detect these changes.

MECP2 triplication in 3 brothers - a rarely described cause of familial neurological regression in boys.

Male patients with large duplications of the methyl CpG-binding protein 2 (MECP2) gene have been identified with a characteristic phenotype consisting of infantile hypotonia replaced by spasticity, developmental delay, severe mental retardation and recurrent respiratory infections. Only one patient with MECP2 triplication, with a more severe phenotype has been reported so far. We report three brothers of unrelated parents with MECP2 triplication. Their phenotypic features include macrocephaly with large ears, infantile hypotonia, developmental delay, significant constipation, recurrent severe respiratory tract infections from early childhood, and seizures followed by neurological regression in late childhood. Our cases indicate that MECP2 triplication is similar to or more severe than that of MECP2 duplication syndrome.

Extensive white matter abnormalities associated with neonatal Parechovirus (HPeV) infection.

White matter changes in the neonatal period are commonly associated with hypoxic-ischaemic injuries and, less frequently, infections. Enteroviral (EV) meningoencephalitis as a cause of extensive white matter changes in newborns is well documented but Human Parechovirus (HPeV) associated with a similar picture has only been recently recognized. We report a case of HPeV-related neonatal meningoencephalitis associated with extensive white matter abnormalities, giving rise to a wide differential diagnosis including consequences of hypoxic-ischaemic encephalopathy (HIE) and periventricular leucomalacia (PVL). This case highlights the importance of excluding both EV and HPeV infection in neonates presenting with signs and symptoms of encephalitis. Moreover, HPeV infection ought to be considered in infants with white matter changes suggestive of HIE but no convincing history of a perinatal hypoxic-ischaemic insult.

Neurologic problems after pediatric liver transplantation and combined liver and bowel transplantations: a single tertiary centre experience.

BACKGROUND: Neurologic problems postpediatric liver transplant have been reported in up to 46% of cases, and mortality is higher in the pediatric age group compared with adults. METHODS: An internal audit was performed in all children undergoing solid organ transplant in the Liver unit at Birmingham Children's Hospital to identify children with neurologic complications. RESULTS: One hundred seventeen children underwent 127 pediatric liver transplant and combined liver and small bowel transplant episodes over a 4-year period. Neurologic problems were present after 31 of 127 (24.4%) transplant episodes involving 29 children. Seizures were the most common presentation (n=17; 54.8%), followed by encephalopathy (n=11; 35.4%) and posterior reversible leukoencephalopathy syndrome (n=6; 19.3%). Other complications noted were central nervous system infection (n=4; 12.9%), cerebrovascular accident (n=3; 9.6%), peripheral neuropathy (n=2; 6.4%) and tremor, transient blurring of vision, auditory hallucinations and choreoathetosis (n=1; 3.2%) each. There were 27 deaths (23%) in 117 children after transplantation, and the mortality rate in the group with neurologic problem was 13.3% (n=4) compared with 26.7% (n=23) in children without neurologic problem (odds ratio 0.45, 95% confidence interval 0.142-1.439). In contrast to other studies, our study showed that the mortality rate was not higher in children with neurologic problems. CONCLUSION: Neurologic problems were relatively common after pediatric liver transplantation and combined liver and bowel transplantations; however, the mortality was lower when compared with previously reported studies.

Congenital thenar hypoplasia with absent radial artery--a case report.

Cavanagh syndrome is a rare, isolated congenital thenar hypoplasia with characteristic clinical, radiological and electrophysiological features. It has never been reported to occur in association with absent radial artery. We report the case of a boy with left sided congenital thenar hypoplasia fulfilling the characteristic clinical, radiological and electrophysiological features of Cavanagh syndrome, associated with congenital absence of left radial artery. We also discuss the possible underlying aetiopathology of Cavanagh syndrome.