Rett syndrome (RTT) is a neurodevelopmental disorder in which a period of normal development is followed by regression of previously acquired skills. RTT was originally thought to be present exclusively in females. However, advances in genetic testing and phenotypic identification revealed that it is not a female-only disorder as cases of males with similar phenotype were reported. RTT was considered lethal in males as it has an X-linked dominant inheritance. The purpose of this review is to report a case of RTT in young male and elaborate genetics and phenomenology of this disorder in males.

Parkinson’s disease (PD) is characterized by the presence of inflammation-mediated dopaminergic neurodegeneration in the substantia nigra. Inflammatory mediators from activated microglia, astrocytes, neurons, T-cells and mast cells mediate neuroinflammation and neurodegeneration. Administration of neurotoxin 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-induces PD like motor deficits in rodents. 1-methyl-4-phenylpyridinium (MPP+), a toxic metabolite of MPTP activates glial cells, neurons and mast cells to release neuroinflammatory mediators. Glia maturation factor (GMF), mast cells and proteinase activated receptor-2 (PAR-2) are implicated in neuroinflammation. Alpha-synuclein which induces neurodegeneration increases PAR-2 expression in the brain. However, the exact mechanisms are not yet understood. In this study, we quantified inflammatory mediators in the brains of MPTP-administered wild type (Wt), GMF-knockout (GMF-KO) and mast cell knockout (MC-KO) mice. Additionally, we analyzed the effect of MPP+, GMF and mast cell proteases on PAR-2 expression in astrocytes and neurons in vitro. Results show that the levels of interleukin-1beta (IL-1β), tumor necrosis factor-alpha (TNF-α) and the chemokine (C-C motif) ligand 2 (CCL2) were lesser in the brains of GMF-KO mice and MC-KO mice when compared to Wt. mice brain after MPTP administration. Incubation of astrocytes and neurons with MPP+, GMF and mouse mast cell protease-6 (MMCP-6) and MMCP-7 increased the expression of PAR-2. Our studies show that the absence of mast cells and GMF reduce the expression of neuroinflammatory mediators in the brain. We conclude that GMF along with mast cell interactions with glial cells and neurons during neuroinflammation can be explored as a new therapeutic target for PD and other neuroinflammatory disorders.

To identify the differences in overall occurrence, location, and disease burden of white matter hyperintensities (WMH) in patients with sporadic hemiplegic migraine (SHM) and patients with migraine headaches. METHODS: We included patients who met diagnostic criteria proposed by the third International Classification of Headache Disorders (ICHD-3) for SHM and migraine headache. WMHs were identified using T2 fluid-attenuated inversion recovery axial sequence and classified based upon the location. The disease burden was assessed using Scheltens visual rating scale. RESULTS: Fifty patients met the diagnostic criteria for SHM and 100 patients for migraine headache. Patients in the study group were similar to the control group in terms of age (47.7 ± 12.2 years vs. 48.17 ± 9.7 years; P = .814) and gender (M: F; 14:36 vs. M: F 25:75; P = .693). WMH were found in 28 (56%) patients with SHM and 44 (44%) in patients with migraine headache. The proportion of patients with WMH was not different between the two groups (P = .166). On univariate analysis, the proportion of patients with WMH in parietal, occipital, and infratentorial regions was higher in patients with SHM. White matter burden determined by visual rating scale and proportion of patients with lesions ࣙ5 mm in diameter was also significantly higher in patients with SHM. On multivariate analysis, the WMH occurrence in the parietal lobe (P = .043) was found to be significantly higher in SHM. CONCLUSIONS: The WMH occurrence in patients with SHM is significantly more in the parietal lobe when compared to those with migraine headaches. WMH burden was also higher in patients with SHM, and larger white matter lesions occurred more frequently in these patients with SHM (compared to ordinary migraineurs).

A 47-year-old man presented with complaints of breakthrough seizures, psychiatric and behavioural changes and catatonic features. MRI of the brain showed mild cerebral and right hippocampal atrophy, while the electroencephalogram showed intermittent right temporal slowing. With a presumed diagnosis of autoimmune encephalitis, he was treated with intravenous immunoglobulin (IVIG) and methylprednisolone, which significantly improved the symptoms. Serological testing later was positive for antileucine-rich glioma inactivated 1 antibody. Two months after the initial presentation, patient had a relapse of the symptoms without any further episodes of seizures. Repeat MRI of the brain showed a significant rapidly progressive diffuse cortical atrophy and hippocampal atrophy, more prominent on the right side along with hydrocephalus ex vacuo when compared with the initial MRI. He is currently on monthly IVIG therapy. At 4 months follow-up from the second imagining study, the patient had persistent MRI findings.

We report a case of postanoxic leukoencephalopathy in a patient who started to have cognitive and behavioral changes weeks after the anoxic insult along with white matter lesions on neuroimaging and demyelination on brain biopsy. His disease course followed a steady decline initially both clinically and radiologically and assumed a steady plateau. Months after his decline, the patient was seen to be completely functional with substantially improved mental status examination and resolution of white matter changes on imaging. The course of this disease entity usually assumes a plateau after clinical worsening with little improvement subsequently. However, our patient showed a dramatic recovery to his baseline after a few months. In this article, we review mechanisms, presentation and the sequelae of hypoxic injury to the brain.