Keele University, UK
|Address for Correspondence:HayleyBowyer, Keele University, UK. Email: email@example.com
Neurodevelopmental regression can be deﬁned as a sudden or gradual loss of previously acquired developmental milestones. There are many reasons for regression including non-organic causes such as neglect, physical abuse or environmental disruption. However, when severe it is usually organic, as a result of genetic, metabolic, structural, infective or inﬂammatory pathology. Therefore, its presentation should alert clinicians to an underlying neurodegenerative condition. Over 3 years, a multidisciplinary team assessed a young girl and concluded that her most likely diagnosis was autosomal recessive Batten disease, the collective term given to neuronal ceroid-lipofuscinoses (CLNs). CLNs are a challenge to diagnose as they show non-specific features, have variable presentations and involve various genetic mutations. Subsequently, there is often a significant delay between initial presentation and diagnosis. This case report describes how observation from school nurses, healthcare workers and educational support allowed appropriate assessment. Formulation of differential diagnoses required team work between community paediatricians, geneticists, radiologists and neurologists. Unfortunately, without early accurate diagnosis of her condition, her family were not able to prepare for the future and prospective pregnancies. Subsequently, she has siblings at risk of the same condition. However, the multidisciplinary team were able to involve palliative care and family counselling services, relieve her symptoms and provide an appropriate environment to improve the quality of her remaining life. Neurodegenerative conditions are relentless and a challenge to diagnose, this case report highlights the necessity for a multidisciplinary team in investigation of neurodevelopmental regression.
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|Bowyer H..Available From : http://www.pediatriconcall.com/Journal/Article/FullText.aspx?artid=8601&type=C&tid=0&imgid=0&reportid=810&tbltype=|