1/3. Anterior encephalocele with subcutaneous right facial nodule.Encephaloceles consist of heterotopic brain tissue that remains connected to the central nervous system. As such, these lesions can occur anywhere along the midline of the head, neck, and back. The clinical findings associated with an encephalocele are often cutaneous, prompting consultation with a dermatologist. Although abnormalities of the skin overlying the spinal cord are readily recognized by our specialty as markers for dysraphism, head and neck lesions may present a diagnostic challenge. We describe a case of an anterior encephalocele to increase awareness of this disorder and to emphasize the clinical findings that will assist with diagnosis. Our case is of particular interest because of the parasagittal location of the facial nodules and minimal actual midline involvement.- - - - - - - - - - ranking = 1keywords = spinal (Clic here for more details about this article) |
2/3. Monomelic amyotrophy associated with the 7472insC mutation in the mtDNA tRNASer(UCN) gene.We describe a 49-year-old male patient who experienced progressive amyotrophy with no sensorial abnormality in the left arm since 45 years of age. The neuromuscular syndrome was identical to that known as Hirayama disease, a rare form of focal lower motor neuron disease affecting the C7-C8-T1 metamers of the spinal cord. Asymmetric neurosensorial hearing loss was present since age 35 in the patient, and was also documented in an elder sister and in the mother. A muscle biopsy showed cytochrome c oxidase (COX) negative fibers but no ragged-red fibers, and mild reduction of COX was confirmed biochemically. The patient was found to have high levels of a known pathogenic mutation of mtDNA, the 7472insC in the gene encoding the tRNA(Ser(UCN)). Investigation on several family members showed a correlation between mutation load and clinical severity. This is the second report documenting the association of lower motor neurone involvement with a specific mtDNA.- - - - - - - - - - ranking = 1keywords = spinal (Clic here for more details about this article) |
3/3. Objective pulsatile tinnitus: a video clip demonstration of the condition.Pulsatile tinnitus is an uncommon condition. We describe a case of pulsatile tinnitus and visually demonstrate a pulsating tympanic membrane caused by a postoperative cerebrospinal leak into the mastoid air cells following resection of a left temporal petrous meningioma. To our knowledge, this is the first case in the literature where an objective pulsatile tinnitus has been captured on video (see www.laryngoscope.com).- - - - - - - - - - ranking = 1keywords = spinal (Clic here for more details about this article) |