The Castang Foundation, Bath Unit for Research in Paediatrics, National Institute of Health Research, the Royal United Hospitals Bath NHS Foundation Trust, BRONNER-BENDER Stiftung/Gernsbach, University Children's Hospital Zurich.
The mechanism of brain injury appears to be increased apoptosis after inflammation and this condition should be included in differential diagnosis of neonatal encephalopathy if skin lesions are present.
Bath-induced paroxysmal events in infants and children can be triggered by various etiologies, including cardiological, neurological, and metabolic causes. It is important to ascertain the underlying cause for such events as this significantly affects the child's management and prognosis. We present the case of a 19-month-old boy who presented with recurrent episodes of apnea, cyanosis, and reduced level of consciousness in response to bathing. Through detailed history and investigation, the diagnosis of water reflex epilepsy was made. Treatment with carbamazepine and adjustment of the bathing technique have prevented further episodes from occurring, and the child's growth and development are progressing normally.ConclusionWater reflex epilepsy can mimic a range of other conditions, and a high index of suspicion is required to establish the diagnosis. Children with water reflex epilepsy can achieve a good quality of life with modified bathing and appropriate antiepileptic medication.
Acute necrotising encephalopathy (ANE) is a rare encephalitis-like syndrome usually reported in East Asia. This clinical syndrome tends to be triggered by viral febrile illness with rapid deterioration to seizures, coma and a generally poor outcome. Diagnosis is usually made on Magnetic Resonance Imaging (MRI). Its epidemiology is unknown largely due to under-recognition. Recurrent ANE has recently been associated with a newly discovered autosomal dominant mutation RAN-binding protein 2 now termed ANE1. There had been reports encouraging the use of empirical corticosteroids as treatment for this condition. However, there have not been any clinical trials to date. Here we report an unusual case of a Caucasian toddler who had suffered two episodes of ANE, but did not receive any specific treatment and has normal physical and cognitive outcome at 1 year follow up. He has this missense mutation in the gene of the RAN-binding protein 2 as have his mother and brother who are both well. This case adds to the worldwide literature and expands on the spectrum of outcomes in order to bring about better recognition in the Caucasian population.
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