Andreja Bujan Kovač

Vagus nerve stimulation in Lafora body disease.

Introduction Lafora body disease (LBD) is a rare autosomal recessive disorder characterized by progression to inexorable dementia and frequent occipital seizures, in addition to myoclonus and generalized tonic–clonic seizures (GTCSs). It belongs to the group of progressive myoclonus epilepsies (PMEs), rare inherited neurodegenerative diseases with great clinical and genetic differences, as well as poor prognosis. Since those patients have a pharmacoresistant disease, an adjunctive treatment option is vagus nerve stimulation (VNS). To date, there are four reported cases of the utility of VNS in PME — in Unverricht–Lundborg disease (ULD), myoclonic epilepsy with ragged-red fibers (MERRF), Gauchers disease, and in one case that remained unclassified. Case presentation A 19-year-old male patient had progressive myoclonus, GTCSs that often progressed to status epilepticus (SE), progressive cerebellar and extrapyramidal symptomatology, and dementia, and his disease was pharmacoresistant. We confirmed the diagnosis of LBD by genetic testing. After VNS implantation, in the one-year follow-up period, there was a complete reduction of GTCS and SE, significant regression of myoclonus, and moderate regression of cerebellar symptomatology. Conclusion To our knowledge, this is the first reported case of the utility of VNS in LBD. Vagus nerve stimulation therapy may be considered a treatment option for different clinical entities of PME. Further studies with a larger number of patients are needed.

Intravenous dexamethasone in acute management of vestibular neuritis: a randomized, placebo-controlled, single-blind trial.

Introduction The aim of the present study was to evaluate the role of intravenous dexamethasone in relieving the symptoms and signs of vestibular neuritis in the emergency department setting. Patients and methods This was a randomized, placebo-controlled, superiority, single-blind study. Patients were randomized either to intravenous dexamethasone (group A) or to placebo (group B), with all patients receiving symptomatic therapy. The primary outcome was defined as necessity to hospitalize patients who present with vestibular neuritis in the emergency department. The secondary outcomes were (a) improvement in nystagmus, (b) improvement in postural instability, (c) lessening of nausea, (d) lessening of vomiting, and (e) recovery of subjective symptoms. Results Altogether, 100 patients were randomized, 51 into group A and 49 into group B. There was no difference in the hospitalization rate between groups (P=0.284). In both groups, there was a statistically significant difference in the values of all measured variables 2 h after therapy intervention compared with the baseline values. In group A, significantly fewer patients had third-degree nystagmus 2 h after therapy intervention whereas the difference in group B did not reach statistical significance. After therapy, more patients had first-degree nystagmus in group A as well as in group B than before the intervention. There was a significantly greater absolute difference in European Evaluation of Vertigo scale results in group A compared with group B. Conclusion The value of dexamethasone cannot be established, given the small sample and limitations of the present study. Some observations consistent with clinical improvement cannot exclude a true treatment effect, and further study is still warranted.

Primary diffuse leptomeningeal gliomatosis: early diagnostic signs

Primary diffuse leptomeningeal gliomatosis (PDLG) is a rare malignant condition of meninges with only 83 cases reported in the literature so far. It is caused by glial cell infiltration, without evidence of a primary brain or spinal cord tumour. In this letter, we point out the importance of early recognition of clinical and neuroradiological signs of the disease and radical oncological treatment.

Vagal nerve stimulation is beneficial in postural orthostatic tachycardia syndrome and epilepsy

Department of Neurology, University Hospital Centre Zagreb, School of Medicine, University of Zagreb, Referral Centre of the Ministry of Health of the Republic of Croatia for Epilepsy, Zagreb, Croatia Department of Neurology, University Hospital Center Zagreb, School of Medicine, University of Zagreb, Referral Centre of the Ministry of Health of the Republic of Croatia for Autonomic Nervous System Disorders, Zagreb, Croatia Department of Neurology, Sibenik-Knin County General Hospital, Sibenik, Croatia

Ritscher – Schinzel Syndrome – 3C (Cranio-Cerebello-Cardiac) Syndrome: Case Report

Ritscher-Schinzel or “cranio-cerebello-cardiac“ (3C) syndrome is a rare autosomal recessive syndrome characterized by craniofacial, cerebellar and cardiac anomalies. Central nervous system anomalies include Dandy-Walker malformation, cerebellar vermis hypoplasia and enlargement of the cisterna magna. Ritscher-Schinzel syndrome is listed as a very rare disease by the Office of Rare Diseases (ORD) of the National Institutes of Health and so far only about 30 cases are reported all over the world, mostly from North America and Europe. We present a case of young male patient born in 1972, who was, soon after his birth, operated due to cleft palate, and afterwards because of ventricular septal defect. From 1989 he has been treated due to epilepsy with signs of psychomotor retardation. In 2008 brain CT revealed Dandy-Walker malformation. In March 2009 he was hospitalized in the Department of Neurology of the University Hospital Centre Zagreb, where brain MRI confirmed described malformation with enlargement of the posterior fossa by cystic formation and aplasia of the caudal part of cerebellar vermis, as well as extensive bilateral subependymal areas of gray matter heterotopia. He clinically presented with craniofacial dysmorphism, syndactylia of 1st and 2nd finger on his right foot, flexion contractures of the distal phalanges of 2nd and 3rd finger on the both hands, and thoracic scoliosis. X-ray examination also revealed hypoplasia of the 1st right rib, congenital block of C6-C7 vertebral bodies and sinistroconvex scoliosis of thoracal segment. Based on clinical examination, neuroradiologic and radiologic diagnostic procedures we believe that our patient fills all necessary criteria for the diagnosis of Ritscher-Schinzel syndrome. So far he is the oldest patient described in the literature, and first described patient in Croatia.