João Soares-Fernandes

Primary spinal glioblastoma: A case report and review of the literature.

Primary spinal glioblastoma (GBM) is a rare disease, with an aggressive course and a poor prognosis. We report a case of a 19-year-old male with a 4-week history of progressive weakness in both lower limbs, which progressed to paraparesis with a left predominance and difficulty in initiating urination over a week. Spine magnetic resonance imaging (MRI) showed an intramedullary expansile mass localised between T6 and T11. We performed a laminotomy and laminoplasty between T6 and T11 and the tumour was partially removed. Histopathological study was compatible with GBM. The patient was administered focal spine radiotherapy with chemotherapy with temozolamide. Serial MRI performed after the initial surgery demonstrated enlargement of the enhancing mass from T3 to T12 and subarachnoid metastatic deposits in C2 and C4, the pituitary stalk, inter-peduncular cistern, left superior cerebellar peduncle and hydrocephalus. We review the literature with regard to the disease and treatment options, and report the unique features of this case. Primary spinal GBM is an extremely rare entity with a poor prognosis and a short survival time. An aggressive management of the different complications as they arise and improvement of current modes of treatment and new treatment options are required to improve survival and ensure better quality of life.

Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1 gene: MRI findings.

Pyruvate dehydrogenase (PDH) deficiency is one of the most common causes of congenital lactic acidosis. Correlations between the genetic defect and neuroimaging findings are lacking. We present conventional and diffusion-weighted MRI findings in a 7-day-old male neonate with PDH deficiency due to a mosaicism for the R302H mutation in the PDHA1 gene. Corpus callosum dysgenesis, widespread increased diffusion in the white matter, and bilateral subependymal cysts were the main features. Although confirmation of PDH deficiency depends on specialized biochemical analyses, neonatal MRI plays a role in evaluating the pattern and extent of brain damage, and potentially in early diagnosis and clinical decision making.

Isolated velopalatine paralysis associated with parvovirus B19 infection

A case of isolated velopalatine paralysis in an 8-year-old boy is presented. The symptoms were sudden-onset of nasal speech, regurgitation of liquids into the nose and dysphagia. Brain MRI and cerebrospinal fluid examination were normal. Infectious serologies disclosed an antibody arrangement towards parvovirus B19 that was typical of recent infection. In the absence of other positive data, the possibility of a correlation between the tenth nerve palsy and parvovirus infection is discussed.

Septo-optic dysplasia with olfactory tract hypoplasia.

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From juvenile parkinsonism to encephalitis lethargica, a new phenotype of post-streptococcal disorders: Case report

We report the case of a 16-year-old boy presented with a mild akinetic-rigid parkinsonism shortly after a post-streptococcal infection. After stopping corticoids, he had a rapid neurological deterioration to a fatal encephalitis lethargica-like syndrome. Serum analysis demonstrated consistently elevated anti-streptolysin-O. This case illustrates a new severe phenotype in the spectrum of the post-streptococcal disorders. This etiology should be considered in the differential diagnosis of a movement disorder with a rapid detrimental evolution.

Reversible cerebellar syndrome induced by hypomagnesemia

Magnesium is the second most abundant intracellular cation, and is involved in a multitude of cellular enzymatic reactions that are essential for life. Hypomagnesemia has been associated with various neurological symptoms. We report an intriguing case of a 68‐year‐old woman with hypomagnesemia and cerebellar syndrome associated with a transient lesion of the cerebellar vermis selectively involving the nodulus. Immediate replacement of magnesium determined the reversibility of the clinical picture.

Isolated oculomotor nerve paresis as the presenting sign of multiple sclerosis.

In multiple sclerosis (MS), ocular motor disturbances such as nystagmus or internuclear ophthalmoplegia are frequent and their pathophysiological processes are relatively well known. On the contrary, other rare and not so well studied manifestations such as isolated ocular motor nerve palsy may be observed and can represent a diagnostic challenge for the clinician as in the case we report. case

Localized scleroderma en coup de sabre in the Neurology Clinic

BACKGROUND Localized scleroderma en coup de sabre (LScs) is a form of localized scleroderma thought to be an autoimmune disorder. Central nervous system involvement is not rare and neurological manifestations include seizures, focal neurological deficits, headache and neuropsychiatric changes. METHODS Patients attending the Neurology Clinic with the final diagnosis of LScs with neurological manifestations were identified and clinical and imagiological records reviewed. RESULTS Five patients (0.024%) had LScs with neurological involvement, presenting with transient focal neurologic deficits, seizures, headache or migraine with aura. Neuroimaging studies confirmed localized skin depression and showed bone thinning, white matter lesions, brain calcifications, sulcal effacement and meningeal enhancement. Three patients experienced clinical improvement after immunosuppressive therapy, and in two of these patients neuroimaging findings also improved. CONCLUSIONS Recognizing typical dermatologic changes is keystone for the diagnosis of LScs with neurological involvement. It is a diagnosis of exclusion and extensive etiological diagnostic evaluation should be performed. Treatment options, including conservative follow-up or immunosuppressive therapy, should be carefully considered.

Hypertrophic Olivary Degeneration and Cerebrovascular Disease: Movement in a Triangle

Hypertrophic olivary degeneration is a rare kind of trans-synaptic degeneration that occurs after lesions of the dentatorubro-olivary pathway. The lesions, commonly unilateral, may result from hemorrhage due to vascular malformation, trauma, surgical intervention or hypertension, tumor, or ischemia. Bilateral cases are extremely rare. This condition is classically associated with development of palatal tremor, but clinical manifestations can include other involuntary movements. We describe 2 cases: unilateral hypertrophic olivary degeneration in a 60-year-old man with contralateral athetosis and neurologic worsening developing several years after a pontine hemorrhage and bilateral hypertrophic olivary degeneration in a 77-year-old woman with development of palatal tremor, probably secondary to pontine ischemic lesions (small vessel disease).

Alcohol abuse and acute behavioural disturbances in a 24-year-old patient

MBD was named after two Italian pathologists who described acute demyelination of the corpus callosum at necropsy in 3 South-Italian male red-wine drinkers. Etiology is unknown. The main pathological features range from demyelination with preserved axon structure, to extensive necrosis with cystic formation and microbleedings. Clinical features are highly variable and include reduced consciousness, unsteady gait, behavioural disturbances, motor defects, seizures and, rarely, interhemispheric disconnection syndromes. Most of these can be seen in much more frequent alcohol-related disorders like Wernicke’s encephalopathy or central pontine myelinolysis, which may not have distinct ocular findings. Recent brain-imaging methods, particularly MRI, disclosed highly specific lesion patterns which, combined with the clinical features, were used to divide MBD in 2 subtypes: type A, characterized by consciousness impairment, extensive T2-weighted hyperintense swelling of the corpus callosum, and bad prognosis; and type B, characterized by behavioural and gait disturbances, restricted ‘‘sandwich-like” T2-weighted hyperintense lesions in the corpus callosum genu or splenium, and a better outcome. MRI also assumes a pivotal role in distinguishing MBD from other diseases, as the lesions affect the central layers of the corpus callosum and