Publications by authors named "Hariom Vaja"

The primary purpose of this study was to enhance the understanding of diastematomyelia, with a particular focus on adult-onset cases, which are infrequent and not fully elucidated. Additionally, the study sought to analyse the clinical features, diagnostic characteristics, and surgical interventions employed to manage the condition. This retrospective case series aimed to investigate diastematomyelia, a rare congenital deformation affecting the spinal cord.

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Background: Crouzon syndrome is a rare genetic disorder characterized by premature fusion of skull sutures during skull development, resulting in various craniofacial abnormalities and complex craniosynostosis is a condition in which more than one such sutures of the skull fuse prematurely.

Case Description: Herein, we present a case of a 5-year-old male diagnosed with Crouzon-like syndrome and complex craniosynostosis involving multiple cranial sutures, including metopic, sagittal, coronal (right and left), and lambdoid sutures, and without any identifiable mutations on karyotyping. The patient underwent successful surgical intervention with a satisfactory outcome, highlighting the importance of early diagnosis and intervention to prevent or minimize associated neurological manifestations and craniofacial abnormalities.

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Juvenile multiple sclerosis (JMS) is a rare but significant subtype of multiple sclerosis (MS) that affects a small percentage of patients under the age of 10 and 3-5% of all MS patients. Despite its rarity, JMS poses unique challenges in terms of diagnosis, treatment, and management, as it can significantly impact a child or adolescent's physical, cognitive, and emotional development. JMS presents with a varying spectrum of signs and symptoms such as coordination difficulties and permanent cognitive dysfunctions and may include atypical clinical features such as seizures, acute disseminated encephalomyelitis, and optic neuritis, making diagnostic evaluations challenging.

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