Search results for "Paroxysmal"
showing 10 items of 64 documents
Paroxysmal nocturnal haemoglobinuria: When delay in diagnosis and long therapy occurs
2017
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare clonal disorder characterized by hemolytic anemia, bone marrow failure and thrombosis, caused by a somaticmutation in PIG-A gene that results in theabsence of CD55 and CD59, two important complement regulatory proteins. In thispaper, a case of PNH is retrospectively examined looking for clinical and laboratory features, and the entire course of the disease from the onset of the symptoms isdescribed, together with an adequate follow-up over a 7-years treatment period. Inthis case, the not specificity and the limited clinical relevance of the symptoms led to adelay in diagnosis. After thrombosis, Eculizumab therapy has been shown to be effec…
Benign nocturnal alternating hemiplegia of childhood
2018
Objective: To describe the clinical spectrum of benign nocturnal alternating hemiplegia of childhood (BNAHC) including long-term follow-up data of previously published cases and to propose an underlying genetic cause of this disorder. Methods: We studied the medical data of two novel patients, reviewed the literature on BNAHC, and gathered information of the most recent follow-up of published cases regarding the course of episodes, further development, attempted drugs, ancillary investigations, and sequelae. Results: All patients, i.e. two novel cases and twelve patients identified in the literature (13 boys, 1 girl, age at onset four months to three years), experienced episodes of hemipleg…
PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?
2019
Abstract Background Mutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epilepsy, and benign myoclonus of early infancy, and/or with dyskinetic paroxysms such as paroxysmal kinesigenic dyskinesia, paroxysmal non-kinesigenic dyskinesia, and exercise-induced dyskinesia. However, the clinical manifestations of this disorder vary widely. PRRT2 encodes a protein expressed in the central nervous system that is mainly localized in the pre-synaptic neurons and is involved in the modulation of synaptic neurotransmitter release. The anomalous functio…
PRRT2 mutations are the major cause of benign familial infantile seizures.
2012
Mutations in PRRT2 have been described in paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with choreoathetosis (PKD with infantile seizures), and recently also in some families with benign familial infantile seizures (BFIS) alone. We analyzed PRRT2 in 49 families and three sporadic cases with BFIS only of Italian, German, Turkish, and Japanese origin and identified the previously described mutation c.649dupC in an unstable series of nine cytosines to occur in 39 of our families and one sporadic case (77% of index cases). Furthermore, three novel mutations were found in three other families, whereas 17% of our index cases did not show PRRT2 mutations, including a large fami…
Biologic relevance of elevated red cell adenosine deaminase activity in myelodysplastic syndromes and paroxysmal nocturnal hemoglobinuria.
1992
Red cell adenosine deaminase (ADA-RBC) activity in patients with myelodysplastic syndromes and paroxysmal nocturnal hemoglobinuria is significantly increased compared to that observed in normal controls. ADA-RBC activity is not related to fetal hemoglobin concentration, but it is significantly correlated with hemoglobin concentration at diagnosis and with the degree of morphologic dysplasia in the erythroid lineage. The results of our study suggest that the observed enzymatic abnormality may constitute a non-specific manifestation of the stem cell alteration that determines these disorders.
Intermediate nerve schwannoma: A rare tumour
2011
The intermediate nerve (IN), also called the nerve of Wrisberg, is a relatively small nerve with a variable anatomical course. Currently, this nerve is not addressed well in the pertinent literature. Pre-operative diagnosis of IN tumours is clinically challenging due to the lack of related symptoms. Symptoms are typically caused by the functional deterioration of neighbouring anatomical structures. In this report, we describe a patient with a schwannoma that arose at the porus acusticus of the internal auditory canal; during surgery, this proved to originate from the IN. We discuss our findings in the context of previously reported cases of IN schwannomas and analyse the vague characteristi…
Benign paroxysmal positional vertigo following whiplash injury: a myth or a reality?
2011
Abstract Objective The aim of the study was to evaluate the true incidence, diagnosis, and treatment of benign paroxysmal positional vertigo (BPPV) arising after whiplash injury and to distinguish this type of posttraumatic vertigo from other types of dizziness complained after trauma. Methods This was a retrospective study comprising patients referred to our center after whiplash injury. The patients were evaluated with neurotologic examination including bedside and instrumental tests. A Dizziness Handicap Inventory evaluating the symptoms of patients was submitted before and after treatment and was evaluated. The BPPV patients were separately evaluated from those with cervicogenic vertigo…
Are postural restrictions necessary for management of posterior canal benign paroxysmal positional vertigo?
2011
Objectives: An important component of management of benign paroxysmal positional vertigo (BPPV) has been the application of postural restrictions after use of a canalith repositioning maneuver (CRM) to prevent the return of otolithic debris into the posterior semicircular canal (PSC). This study was designed to explore the effectiveness of postural restrictions in patients with BPPV caused by otolithic debris in the PSC. Methods: Seventy-four adult patients with unilateral PSC BPPV were enrolled into this study. All patients were managed with a CRM — Either the modified Epley maneuver or the Semont maneuver. The patients were divided randomly into 2 groups: Group A, with postural restrictio…
Management of benign paroxysmal positional vertigo of lateral semicircular canal by Gufoni's manoeuvre
2009
Abstract Benign paroxysmal positional vertigo (BPPV) of lateral semicircular canal (LSC) is one of the rarer forms of BPPV as compared to posterior semicircular canal BPPV. Various particle repositioning manoeuvres have been described in the literature as a mode of treating this condition. Purpose Evaluation and discussion of the procedure of the Gufoni's manoeuvre and its advantages in the treatment of BPPV of LSC. Material and methods Prospective study of 58 patients affected by LSC BPPV who were office-treated with Gufoni's manoeuvre. Results Seventy-nine percent of the patients so treated had complete resolution of symptoms, and 6.9% did not show any improvement in their symptoms. The r…
Comparison of repositioning maneuvers for benign paroxysmal positional vertigo of posterior semicircular canal: advantages of hybrid maneuver.
2012
Objective: The prevalence of benign paroxysmal positional vertigo (BPPV) is becoming more frequent in elderly population. The presence of comorbid factors has to be considered before assessment as well as before commencing any repositioning treatment. Our aims were evaluation of the maneuvers efficacy and evaluation of the applicability of hybrid maneuver (HM) in patients with physical limitation. Study design and setting: This is a randomized study in 2 tertiary referral centers. Intervention: This is a therapeutic intervention. Patients: All consecutive patients with diagnosis of BPPV of posterior canal matching the inclusion criteria were enrolled. Patients underwent treatment soon after…