Prateek Malik
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View article: Imaging Findings and MRI Patterns in a Cohort of 18q Chromosomal Abnormalities
Imaging Findings and MRI Patterns in a Cohort of 18q Chromosomal Abnormalities Open
In this cohort of 18q chromosomal abnormalities, MR imaging revealed recognizable patterns correlating with improving brain myelination. Imaging findings appear to be on a continuum with more severe white matter abnormalities in ring chrom…
View article: Fumaric Aciduria
Fumaric Aciduria Open
Sir, Inborn errors of metabolism (IEM) are a heterogeneous group of inherited disorders that may result from enzyme deficiencies or cofactor defects, leading to a block in the biochemical pathway. The age at onset and clinical manifestatio…
View article: MRI Patterns in Pediatric CNS Hemophagocytic Lymphohistiocytosis
MRI Patterns in Pediatric CNS Hemophagocytic Lymphohistiocytosis Open
Distinct MR imaging patterns correlating with clinical phenotypes and possible genetic underpinnings were recognized in this cohort of pediatric CNS hemophagocytic lymphohistiocytosis. Disruptive mutations and missense mutations with absen…
View article: Imaging findings in TRPM6-Related hypomagnesemia with secondary hypocalcemia
Imaging findings in TRPM6-Related hypomagnesemia with secondary hypocalcemia Open
A 3-year-old girl, first born to third-degree consanguineous couple from Bangladesh was brought for the evaluation of mild delay in motor milestones since early infancy and recurrent generalized tonic-clonic seizures since 4 months of age.…
View article: Relapsing Demyelinating Syndromes in Children: A Practical Review of Neuroradiological Mimics
Relapsing Demyelinating Syndromes in Children: A Practical Review of Neuroradiological Mimics Open
Relapsing demyelinating syndromes (RDS) in children encompass a diverse spectrum of entities including multiple sclerosis (MS) acute disseminated encephalomyelitis (ADEM), aquaporin-4 antibody associated neuromyelitis optica spectrum disor…
View article: Molecular correlates of cerebellar mutism syndrome in medulloblastoma
Molecular correlates of cerebellar mutism syndrome in medulloblastoma Open
Background Cerebellar mutism syndrome (CMS) is a common complication following resection of posterior fossa tumors, most commonly after surgery for medulloblastoma. Medulloblastoma subgroups have historically been treated as a single entit…