Publications by authors named "Mayank Detroja"

Introduction: Spastic cerebral palsy (CP) is the commonest physiological type according to literature which comes mainly from the developed countries where prematurity is a common cause for cerebral palsy. In developing countries like India, the leading causes of cerebral palsy are birth asphyxia, infections, and hyperbilirubinemia and, hence, the physiological type of CP is likely to be different. However, the data from our country is scant.

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Article Synopsis
  • - The study explores neuronal ceroid lipofuscinoses (NCL), a group of neurodegenerative disorders characterized by harmful substance buildup in brain cells, particularly in children from India, where research has been limited.
  • - Over a 10-year period, 50 children were diagnosed with various types of NCL, with specific diagnoses including CLN-1, CLN-2, and others identified through enzymatic studies and genetic testing, showcasing a range of clinical symptoms such as seizures and developmental issues.
  • - The findings indicate that NCL presents diverse neuroimaging patterns and leads to a progressive decline in health, ultimately resulting in death for many children within 5 to 10 years after symptoms begin, with diagnosis relying on
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Objective: To study the clinico-radiological profile of children with acute leukoencephalopathy with restricted diffusion.

Methods: A retrospective chart review of children with acute leukoencephalopathy with restricted diffusion was done from July 2015 to July 2018. The clinical details, neuroimaging findings, sequelae, and the final outcome on modified Rankin Score were analyzed.

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Though mineralizing angiopathy is increasingly being recognised as a cause of ischemic stroke in young children, it's cause is not clear. As congenital infections and perinatal infections have been proposed to be associated with mineralizing angiopathy, the authors studied the prevalence of perinatal infections in children with mineralizing angiopathy and compared it with focal cerebral arteriopathy and non-stroke patients. Sixteen children with mineralizing angiopathy, 14 children with focal cerebral arteriopathy and 40 non-stroke patients were enrolled.

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Introduction: Hereditary spastic paraplegia (HSP) is a group of neurogenetic disorders seen mainly in adults. With the advancement in genetics, more than 78 types of HSP have been identified, with increasing identification of HSP in children. However, there is scant literature on this from India.

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Neuronal ceroid lipofuscinosis (NCL) is a group of progressive neurodegenerative disorders characterized by intracellular accumulation of ceroid lipopigments. Based on gene defect of NCL-associated proteins, 14 types of NCL have been described till date. NCL type 11 was first described in 2014 in two siblings as adult-onset NCL and was found to be due to a homozygous progranulin gene mutation.

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