Isolated acute pseudobulbar palsy with infarction of artery of percheron: case report and literature review

Introduction: Pseudobulbar palsy (PBP) is characterized by supranuclear lesions in the corticobulbar pathway. Neoplasia, inflammatory, demyelinating, and stroke are possible etiologies of this disorder. Case report: We report an elderly female who presented with dysarthria. She was dysarthric with a hypernasal voice, no apraxia or aphasia was observed. Tongue movements were slow with limited amplitude. Her soft palate dropped bilaterally; gag reflex was present. Also, she reported swallowing difficulty and choking with her saliva. Bilateral vertical and horizontal gaze were intact to either voluntary or oculocephalic movements. A cranial CT scan was suggestive of artery of Percheron (AOP) infarction. Brain magnetic resonance imaging showed hypersignal on diffusion-weighted and T2-weighted images and hyposignal on apparent diffusion coefficient in both thalami. CT angiography scan revealed an AOP originating from the left posterior cerebral artery. The swallowing study with a videofluoroscopic demonstrated oral and pharyngeal phases with severe dysfunction. Conclusion: To the authors’ knowledge, there are two cases of individuals with artery of Percheron infarction who devel- oped PBP associated with other clinical syndromes. Still, isolated PBP following infarction of Percheron’s artery was not reported. We hypothesized that the PBP may have occurred because of the existence of vascular territory variations in the perforating arteries that arise from the AOP. Keywords: Pseudobulbar palsy; thalamus; infarction.

Otolaryngologist’s role in the diagnosis of amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) is a progressive and late-onset fatal neurodegenerative disease characterised by selective death of motor neurons. The aetiology of ALS is still unknown and it is extremely heterogeneous in genetics and clinical presentation, being the respiratory failure the usual cause of death. We describe a case of a 61-year-old male patient referred to the otolaryngology consultation for a 6-month history of progressive solid dysphagia and dysphonia. The patient presented several voice alterations such as a dysarthric speech with hypernasal voice which evoked the hypothesis of a neuromuscular disease. That patient was observed by a neurologist and was submitted to an electromyography that confirmed the ALS diagnosis. This case highlights the key role of otolaryngologists in the diagnosis of ALS, in a way that many patients with a bulbar ALS form are initially studied by an otolaryngologist.

Is 22q11.2 deletion syndrome a genetic subtype of schizophrenia?

Introduction22q11.2 deletion syndrome is a primary immunodeficiency due to micro-deletion on the large arm of chromosome 22. Patients suffer from several anomalies, including metal illness, that such the case we present, mean a warning sign for further study.MethodsTwenty-one years-old male, with psychotic symptoms, typical of schizophrenia, behavioral disorders and mental confusion, plus epileptic episodes and psychomotor agitation. Two previous incomes with the diagnosis of psychotic disorder not otherwise specified. Treated with anti-psychotics at low doses with inter-episode stability.BackgroundPrematurity, low birth weight, neonatal asphyxia, generalized seizures, otitis and recurrent urinary tract infections, hypernasal voice, poor academic performance, difficulty relating. Physical examination: hypernasal voice, furred tongue, dysmorphic faces, scoliosis, hipotanía, stereotypes, delusions, auditory hallucinationsd negative symptoms.ResultsWe considered the possibility of a neurodevelopmental disorder, with a multidisciplinary approach, resulting in the diagnosis of paranoid schizophrenia and velocardiofacial syndrome, which had gone unnoticed. Mean doses of clozapine, haloperidol and topiramate were used. He accepted psychiatry and other specialties follow-up, since it requires a complex and multidisciplinary approach.ConclusionsDefinition of velocardiofacial Syndrome and lack of consensus on terminology:– syndrome 22q11.2 DS as genetic subtype of schizophrenia? Opportunity to study the pathogenesis of schizophrenia;– the importance of a comprehensive approach to early diagnosis, clinical improvement and preventing complications.Disclosure of interestThe authors have not supplied their declaration of competing interest.

Instrumental Modification of Hypernasal Voice Quality in Retarded Children: Case Reports

A bioelectric system for detecting and measuring voice parameters, The Oral Nasal Acoustic Ratio (TONAR), was used to explore its potential for reducing nasality in three mentally retarded children with hypernasality. All three reduced their hypernasality during a three-week treatment period. Concomitant improvements in speech intelligibility occurred in two of the children. While replication studies are definitely warranted, the findings strongly suggest that many educable mentally retarded children do have the potential for modifying their hypernasality and that TONAR appears to have significant clinical potential for such children.