Pelizaeus–Merzbacher disease (PMD) is a rare X-linked central nervous system disease involving the proteolipid protein 1 (PLP1) gene on Xq22.1. PMD patients’ commonly exhibit signs including nystagmus, hypotonia, and developmental delay. We report a female case of mild spectrum phenotypic expression of PMD attributable to a de novo Copy Number Variant (CNV) change. A two and half-year-old girl presented to our clinic with hypotonicity. She had apneic spells at birth, and was diagnosed to have nystagmus when she was 3 months old. In addition, she presented with delayed motor development including poor head control and inability to sit independently at 6 months of age, eventually standing with support at 20 months, and a prominent wide-based gait at 24 months. MRI head revealed diffuse, markedly delayed myelination, with a reduction in white matter volume. A chromosomal microarray testing indicated that patient carries an Xq22.1 q23 duplication of uncertain significance, of which the PLP1 is fully duplicated. Parental studies were normal. X-inactivation study was normal. Therefore, our case represents a phenotypic expression of PMD due to de novo mutation, a rare occurrence in a female.

Background: Migraine and vertigo are highly prevalent; their simultaneous presentation is frequent and may require a different diagnostic approach than that used for migraine and vertigo separately. Migraine vertigo is recognized as a defined entity within the IHS classification of headaches. Methods: We reviewed the principal manifestations of peripheral and central affection (brainstem) that explain this clinical picture presentation, reviewed the general characteristics, epidemiology, semiology, treatment and prognosis. Results: The symptomatology suggest that the pathophysiology occurs as a vascular problem with aseptic inflammation and also affects the posterior territory. Although the conditions evolution is usually favorable, its dramatic presentation requires a detailed diagnostic approach (clinical and image), although the treatment does not differ from migraines general management. Conclusion: The vestibular migraine or Migrainous Vertigo is an already defined entity, although the treatment is similar to the migraine with and without aura.

Background and Importance In the field of spinal tumors, and in particular, among extra-axial spinal and peripheral nerve tumors, the occurrence of dumbbell lumbar meningioma has not been reported in the literature. In the present study we describe a case of a patient suffering from dumbbell-shaped lumbar meningioma. This tumor resulted, after postoperative histological examination, a fibroblastic meningioma, WHO I grade, a very rare entity. Dumbbell meningiomas are extremely uncommon, comprising only 2–3.6 %.

The Subependymoma is derived from subependymal astrocytic cells. In the present work we report 3 patients: 1 patient with data of endocranial hypertension, and two with neurological focus and spinal involvement. MRI (Magnetic Resonance Imagen) showed heterogeneous images, solid and cystic components, from different locations. Ependimo-Astrocytomas have neoplastic ependymal cells and gliofibrillar formation. Embryologically, the ventricle is lined by ependymal cells, below which is a layer of glial fibers and a layer of subependymal cells. When these layers of differentiation do not exist in development, there is high mitosis and these lesions with mixed characteristics can be found. Different tips and suggestions are provided in its management for resection in the surgical treatment of these cervical tumors.