Intracranial Hypertension and Optic Neuritis in Two Unrelated Seronegative Cases.

Intracranial Hypertension (ICHT) is identified as the elevation of Cerebrospinal Fluid (CSF) pressure in patients devoid of any underlying causes. Optic Neuritis (ON) is not typically seen as a complication of ICHT, and patients diagnosed with concurrent manifestation of both these disorders usually have some identifiable underlying cause. In this report, we highlight the clinical and para-clinical findings in two unrelated children presenting with high CSF opening pressures and Optic neuritis in the absence of any identifiable neurological or immunological cause.

Normal very long-chain fatty acids level in a patient with peroxisome biogenesis disorders: a case report.

Background: Zellweger spectrum disorders (ZSDs) are a group of peroxisome biogenesis disorders (PBDs) with different variants in the PEX genes. The main biochemical marker for screening peroxisomal disorders is very long-chain fatty acids (VLCFAs). The study reveals a rare case of PBD in the Zellweger spectrum in which she had normal plasma VLCFA levels.

Expanding the Clinical Phenotype of PLECTIN-Related Plectinopathies.

Background: Plectinopathy-associated disorders are caused by mutations in the gene encoding Plectin protein. mutations cause a spectrum of diseases defined by varying degrees of signs, mostly with epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) and plectinopathy-related disorder is limb-girdle muscular dystrophy type 2Q (LGMD2Q). Here we report three cases with EBS-MD and LGMD2Q disorders analyzed by exome sequencing followed by mutation confirmation.