Marked by incomplete division of the embryonic forebrain, holoprosencephaly is one of the
most common human developmental disorders. Despite decades of phenotype-driven …

This 27-year-old female presented with delay in motor milestones noted in infancy followed
by slowly progressive motor disability starting at around 3 to 4 years of age and by speech …

Background: Juvenile Tay-Sachs disease is rarer than other forms of Tay-Sachs disease
and is usually seen in children between the age of 2 and 10 years. Pyrimethamine as a …

In this case report, we described a 15-year-old boy who presented with intermittent episodes
of ataxia and diplopia since 6.5 years of age. Extensive workup done over several years was …

Materials and Methods: Children aged 0–18 years enrolled between 2008 and 2018, under
“Keto Kid Project”––an outpatient-based project were included in this study. Demographic …

A full-term (40+ 2/7 weeks) male baby, weighing 2.8 kg, was born to non-consanguineous
parents by normal vaginal delivery. He was referred at 9 hours of age with lethargy, poor …

Acute demyelinating syndromes are defined as clinical presentations of acute-onset
neurologic deficits associated with evidence of central nervous system (CNS) demyelination …

Background: Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is an auto-
immune encephalitis with prominent neuropsychiatric manifestations that may be …