Psychoses in Pediatric-Onset Multiple Sclerosis: A Case Report and Systematic Review.

Problem: The association of pediatric-onset multiple sclerosis (POMS) and psychosis remains rare and unclear in the literature. We aim to elucidate the association between POMS and psychosis across case reports.

Methods: We report a case of schizophrenia (SCZ) revealing POMS.

From pathological mechanisms in Krabbe disease to cutting-edge therapy: A comprehensive review.

Since its initial documentation by Knud Krabbe in 1916, numerous studies have scrutinized the characteristics of Krabbe disease (KD) until the identification of the mutation in the GALC gene. In alignment with that, we investigated the natural history of KD spanning eight decades to gain a deeper understanding of the evolutionary trajectory of its mechanisms. Through our comprehensive analysis, we unearthed additional novel elements in molecular biology involving the micropathological mechanism of the disease.

Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation.

Introduction: X-linked adrenoleukodystrophy is a neurodegenerative recessive disorder that affects the brain white matter and associated with adrenal insufficiency. It is characterized by an abnormal function of the peroxisomes, which leads to an accumulation of the Very Long Chain Fatty Acids (VLCFA) in plasma and tissues, especially in the cortex of the adrenal glands and the white matter of the central nervous system. Mutations in the ABCD1 gene affect the function of the encoded protein ALDP, an ATP-binding cassette transporter located in the peroxisomal membrane protein.