AV Malformation Within Buccinator Muscle-A Unique Finding.

Arteriovenous malformations (AVMs) are most commonly reported in the brain whereas in head and neck region they are rare i.e. incidence is 0.

Antenatal presentation and supratentorial brain abnormalities in a child with Poretti-Boltshauser syndrome.

Autosomal recessively inherited Poretti-Boltshauser syndrome (PBS) with loss-of-function variants in the LAMA1 gene are characterized by motor and speech developmental delay, high myopia, and cerebellar dysplasia with cysts without any supratentorial abnormalities on neuroimaging. There is no muscular involvement. We report an eight months child with genetically confirmed PBS who presented with antenatally detected ventriculomegaly and had global developmental delay, focal seizures, myopic degeneration of fundi.

Acute Leucoencephalopathy with Restricted Diffusion in Children - A case series.

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.

E-tutorials to accentuate - Clinical microbiology learning.

Competency-based medical education has challenged the educators to adopt new teaching modalities to instil self-directed learning among children. E-learning in the form of blended learning is studied to facilitate clinical microbiology learning. A class of 200 students was introduced to the process of Google Classroom.

Clinico-Investigative Profile of Hereditary Spastic Paraplegia in Children.

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.

Neuronal ceroid lipofuscinosis type-11 in an adolescent.

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.