1,721,164 research outputs found
Clinical Features in Patients With PANDAS/PANS and Therapeutic Approaches: A Retrospective Study
No full textObjective: The clinical characteristics of patients with PANDAS (pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection) and PANS (pediatric acute-onset neuropsychiatric syndrome) and the efficacy of antibiotic therapy with psychotherapy and antipsychotics were investigated to improve neurological symptoms as well as obsessive compulsive disorder (OCD). Methods: We retrospectively analyzed 62 patients with a clinical diagnosis of PANDAS/PANS enrolled from May 14, 2013 to September 15, 2020 in the Neurology Childhood Division, Department of Pediatrics at Sapienza, Rome. Clinical manifestations, neurological and psychiatric, laboratory investigations, and familiar history were collected to evaluate the differences between the two groups. The effects of various therapeutic approaches were examined. Descriptive and comparative statistical analyses were performed. Results: The mean age at onset of PANDAS/PANS symptoms was 6.2 ± 1.2 years. The most common diagnosis was PANDAS, followed by PANS. Neurological and psychiatric symptoms were mostly evident in both groups (>70% of the population), with no significant difference between them (P = 0.52 and P = 0.15, respectively). Irritability, aggressivity, and food restriction were more prevalent in children with PANS than in those with PANDAS (P = 0.024 and P = 0.0023, respectively). The levels of anti-streptolysin O and anti-DNAse B 10-fold higher in PANDAS than those in PANS (P < 0.0001). Antibiotics or psychotherapy were administered in most cases (90.3 and 53.2%, respectively), followed by antipsychotic treatments (24.2%). In the multivariate analysis, among the therapies used, psychotherapy significantly resulted in the most efficacious relief of OCD, reducing stress in patients and their parents (P = 0.042). Conclusion: Our findings confirm a clear clinical difference between the two groups, PANDAS and PANS, using different approaches. In fact, irritability, aggressivity, and food restriction were significantly more frequent in children with PANS and the levels of anti-streptolysin O and anti-DNAse B were higher in PANDAS. Another relevant finding is the efficacy of psychotherapy, especially for obsessive-compulsive disorder, and of antibiotic prophylaxis in managing acute neurological symptoms
Ipotonia nel primo anno di vita.
No full textDiagnosi diferrenziale delle ipotonie nel primo anno di vita
Pigmentary mosaicism, subcortical band heterotopia, and brain cystic lesions
No full textA10-year-old boy presented with a severe and diffuse
mosaic skin hypopigmentation running(in narrow
bands)along the lines of Blaschko associated with mo-
saic areas of alopecia,facial dysmorphism with midface
hypoplasia,bilateral punctate cataract,microretrogna-
thia,short neck,pectus excavatum,joint hypermobility,
mild muscular hypotonia,generalized seizures,and
mild mental retardation.Cranial magnetic resonance
imaging revealed hypoplastic corpus callosum(primar-
ily posterior),subcortical band heterotopia,and diffuse
subcortical,periventricular cystic-like lesions.Similar
dysmorphic features were observed in the child’s
mother,but with no imaging abnormalities.The facial
phenotype coupled with the cysts in the brain was
strongly reminiscent of the oculocerebrorenal Lowe
syndrome.Full chromosome studies in the parents
and the proband and mutation analysis on peripheral
blood lymphocytes(and on skin cultured fibroblasts
from affected and unaffected skin areas in the child)
in the genes for subcortical band heterotopia(DCX
(Xq22.3-q23)],lissencephaly(PAFAH1B1,alias LIS1,
at17p13.3),and oculocerebrorenal syndrome of Lowe
(OCRL atXq23-q24)]were unrevealing.This constel-
lation of multiple congenital anomalies including skin
hypopigmentation and eye,musculoskeletal,and ner-
vous system abnormalities was sufficiently character-
ized to be regarded as a novel example of pigmentary
mosaicism of the Ito type(i.e.,hypomelanosisof
Ito)
Diffuse onset of ictal electroencephalography in a typical case of Panayiotopoulos syndrome and review of the literature.
No full textPanayiotopoulos syndrome is a common and benign childhood autonomic epilepsy of debated localization. Although officially considered as occipital epilepsy, this is most likely of multifocal origin. Ictal electroencephalography is the gold standard of seizure localization, but in Panayiotopoulos syndrome, because patients have single or rare seizures, only 7 cases with ictal electroencephalography have been reported. Ictal onsets show variable anterior and more often posterior locations. We describe an 8-year-old girl with 5 nocturnal autonomic seizures typical of Panayiotopoulos syndrome from age 4. The last seizure was captured with electroencephalography and showed a diffuse onset of the ictal discharge, whereas various interictal electroencephalography had infrequent multifocal spikes. This case contributes to the understanding of the pathophysiology of Panayiotopoulos syndrome in favor of a diffuse and multifocal cortical epileptogenicity that triggers an unstable central autonomic nervous system solely or prior to the focal cortical symptoms
Addition of verapamil in the treatment of severe myoclonic epilepsy in infancy
No full textWe report on the use of the voltage-gated calcium channel blocker (Vg-CCB), verapamil, as an add-on anticonvulsant medication in two girls, 4 and 14 years of age, who were affected by severe myoclonic epilepsy in infancy (SMEI) or Dravet syndrome, a channelopathy caused by abnormalities in the voltage-gated sodium channel neuronal type α1 subunit (SCN1A) gene at 2q24. Both girls had pharmacoresistant epilepsy and developmental delay. Mutation analysis for the SCN1A gene revealed a missense mutation in exon 2 in the 4-year-old girl. Verapamil was co-administered in both children with a prompt response in controlling status epilepticus, myoclonic jerks, and partial and generalized seizures. The therapeutic effect lasted 13 months in the 14-year-old girl, while it is still present after a 20-month follow-up period in the 4-year-old girl who, in addition, has experienced improvement in motor and language development. The verapamil vVg-CCB, which crosses the blood-brain barrier (BBB): (a) inhibits the P-glycoprotein, an active efflux transporter protein expressed in normal tissue, including the brain, which is believed to contribute to the in situ phenomenon of multidrug resistance; and (b) may regulate membrane depolarization induced by abnormal sodium channels functions by modulating the abnormal Ca++ influxes into neurons with subsequent cell resting. This is the first report on long-lasting verapamil therapy in SMEI. The functional consequences of such in vivo modulating effects on Ca++ channels could contribute to rational targeting for future molecular therapeutic approaches in pharmacoresistant epileptic channelopathies. © 2009 Elsevier B.V. All rights reserved
Residual and persistent Adie’s pupil after pediatric ophthalmoplegic migraine
No full textWe report on a 9-year-old girl diagnosed with ophthalmoplegic migraines who had been previously diagnosed, at age 7 years, with typical migraines with aura. After resolution of the third ophthalmoplegic migraine attack, the only evident residual clinical sign was Adie’s pupil. During 24-month follow-up, at age 11 years, a neurologic examination produced completely normal results. However, Adie’s pupil persisted. Adie’s tonic pupil can be associated with extraocular diseases, which were all excluded in this patient. The mechanisms underlying tonic pupil are not fully understood. This is the first
report, to the best of our knowledge, of an ophthalmoplegic migraine followed by persistent Adie’s pupil. Possible
pathogenic mechanisms are discussed
Eye movement desensitisation and reprocessing (EMDR) treatment associated with parent management training (PMT) for the acute symptoms in a patient with PANDAS syndrome: a case report
Full text linkBACKGROUND: The purpose of this report was to present the results of eye movement desensitisation and reprocessing (EMDR) therapy associated with parent management training (PMT) in a child with paediatric autoimmune neuropsychiatric disorder associated with streptococcus (PANDAS), who had previously only been treated with pharmacological treatment. CASE PRESENTATION: The case concerns an 11-year-old boy who presented with simple and complex vocal tics, motor tics, obsessive-compulsive traits and irritability from the age of 6 years, in addition to a positive result for streptococcal infection. The course of symptoms followed a relapsing-remitting trend with acute phases that were contingent on the infectious episodes. CONCLUSIONS: Following eight sessions of EMDR, preceded by training sessions with the parents, the child showed a significant reduction in symptoms and disappearance of the exacerbation. These results indicate the possibility of improving the treatment outcomes of patients with PANDAS by a combined approach using both antibiotic and EMDR therapies
Neuronal Heterotopia
No full textIn questa Lettera all'Editore viene discusso il potenziale ruolo dei disordini di migrazione neuronale nella epilessia della età evolutiva e della farmacoresistenz
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