Acute and chronic corticosteroid treatment of ten patients with paralytic form of Sydenham's chorea

AIMS: To determine efficacy and safety of corticosteroid treatment in patients with severe Sydenham's chorea paralytic form. METHODS: This is a 4 years observational study on ten patient with severe paralytic form of Sydenham's chorea unresponsive to neuroleptics and antiepileptics agents, treated with intravenous methylprednisolone followed by oral deflazacort therapy. Chorea paralytica patients were bedridden, unable to take independent steps, showed severe generalized hypotonia and were hospitalized for 3-4 weeks. Additional clinical evaluations were undertaken at 1, 3 and 6 months and 1, 2 and 4 years from onset of chorea. Severity chorea at the onset and during follow up was rated according to Universidade Federal de Minas Gerais (UFMG) Sydenham's Chorea Rating Scale (USCRS). In all children video-recording was performing at onset and during clinical follow-up. RESULTS: We reported a significant improvement in swallowing and chewing with partial recovery of language 2-3 days after starting intravenous methylprednisolone treatment and complete disappearance of movement disorders after 3-4 weeks of treatment. All our patients were followed for 4 years from onset and none experienced relapse of chorea, other movement disorders or psychiatric disturbances. The treatment with deflazacort was well-tolerated in all children with no significant side effects reported. CONCLUSION: Our data showed that high dose of methylprednisolone intravenously followed by deflazacort therapy may be effective and well-tolerated in children with severe paralytic form of Sydenham's chorea

Epilessie del lobo occipitale

Vengono presentate le diverse forme di epilessie occipitali dell'infanzia e dell'adolescenza, con le specifiche caratterizzazioni cliniche, elettroencefalografiche. Viene discussa la terapia e la prognosi delle singole forme

Acute and chronic corticosteroid treatment of ten patients with paralytic form of Sydenham's chorea

Aims: To determine efficacy and safety of corticosteroid treatment in patients with severe Sydenham's chorea paralytic form. Methods: This is a 4 years observational study on ten patient with severe paralytic form of Sydenham's chorea unresponsive to neuroleptics and antiepileptics agents, treated with intravenous methylprednisolone followed by oral deflazacort therapy. Chorea paralytica patients were bedridden, unable to take independent steps, showed severe generalized hypotonia and were hospitalized for 3-4 weeks. Additional clinical evaluations were undertaken at 1, 3 and 6 months and 1, 2 and 4 years from onset of chorea. Severity chorea at the onset and during follow up was rated according to Universidade Federal de Minas Gerais (UFMG) Sydenham's Chorea Rating Scale (USCRS). In all children video-recording was performing at onset and during clinical follow-up. Results: We reported a significant improvement in swallowing and chewing with partial recovery of language 2-3 days after starting intravenous methylprednisolone treatment and complete disappearance of movement disorders after 3-4 weeks of treatment. All our patients were followed for 4 years from onset and none experienced relapse of chorea, other movement disorders or psychiatric disturbances. The treatment with deflazacort was well-tolerated in all children with no significant side effects reported. Conclusion: Our data showed that high dose of methylprednisolone intravenously followed by deflazacort therapy may be effective and well-tolerated in children with severe paralytic form of Sydenham's chorea. © 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved

Clinical features of benign infantile convulsions: familial and sporadic cases.

Objective: To give a contribution about the existence of non familial benign infantile convulsions during the first two years of life. Patients and Methods: We evaluated 58 patients (29 females and 29 males) with seizure onset ranging between 4 and 24 months of life, regular psychomotor development, unremarkable neuro-imaging studies and interictal electroencephalogram. We analyzed gender, age at onset, duration, manifestations and frequency of seizures, family history of febrile or infantile convulsions. Results: 17 patients had a family history of benign epilepsy, while 41 had not. Among the latter, 12 showed a family history of febrile seizures and the remaining 29 had an uncertain or fully negative familiarity with it. No clinical differences have been observed between the familial and the non familial groups. Nobody experienced seizures after the age of two and the psychomotor development remained normal in all patients, during follow-up. Conclusions: This study confirms the existence of non familial benign infantile convulsions and the benign outcome of this type of seizures either familial or non-familial. In addition to this, we also discuss the possibility to avoid anti-epileptic treatment

The homozygous ganglioside-induced differentiation-associated protein 1 mutation c.373C > T causes a very early-onset neuropathy: case report and literature review.

Mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene may cause severe early-onset inherited neuropathies. Here, the authors report a clinical and neurophysiological follow-up of a Pakistani child with a very early-onset neuropathy carrying a novel homozygous mutation in the GDAP1gene. They discuss the relationship between the several forms of Charcot-Marie-Tooth disease presenting in the first months of life and focus on the literature of GDAP1-associated early-onset neuropathy. This case further expands on the clinical spectrum and the genetic heterogeneity of early-onset inherited neuropathy due to GDAP1 gene mutations

Clinical and pharmacological approaches of status epilepticus in children: Personal experience. Minerva Psichiatrica

Background: Status epilepticus is a neurological emergency that require a prompt treatment following steps of more aggressive therapy. We analysed efficacy of treatment protocol in paediatric SE. Methods: We present a retrospective study in 29 patients (age range: 3mm-18yy) affected by status epilepticus (SE) of whom 16 patients had a previous diagnosis of epilepsy (symptomatic or idiopathic) while, in 13 cases, SE was the first epileptic event. Protocol of treatment suggests a first treatment with intravenous Diazepam followed by a bolus of Phenytoin (PHT) in case of non-response. All patients were carefully monitored, electroencephalographic activity (EEG) and vital signs, particularly respiratory depression. When the patients were classified as refractory or suffered from respiratory insufficiency, they were transferred into ICU where anesthetic drugs ( propofol or pentothal) could be administered. Results: Seventeen children were treated in neurological unit: 7 (24%) children responded to intravenous Diazepam. 10 (35%) children required an additional bolus of Phenytoin at the variable dose of 15-20 mg/Kg/bolus. 12 patients (41%) were admitted to Intensive Unit Care (ICU): 3 for respiratory insufficiency and 9 for treatment with anaesthetics drugs. Conclusions: In our experience so as in literature there is no Gold Standard in the treatment of SE. Nearly half of patients needed ICU support thus, the best approach still remains multidisciplinary

MRI findings in patients with clinical onset consistent with Infantile Neuroaxonal Dystrophy (INAD), literature review, clinical and MRI follow-up

Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive neurodegenerative disorder characterized by infantile onset and rapid progression of psychomotor regression and hypotonia evolving into spasticity. The neuroradiologic hallmark of the disease is represented by progressive cerebellar atrophy. Prior to the discovery of mutations in the PLA2G6 gene in family with INAD, the clinical diagnosis of the disease had been confirmed by the presence of spheroid bodies (SB) in a peripheral nerve biopsy. Various studies have found that some patients with mutations lacked SB and some without mutations had SB, indicating incomplete detection using either pathologic or molecular methods 7. This, together with the observation that the spectrum of clinical features associated with mutations in PLA2G6 is broader than previously described, has increased the usefulness of Magnetic Resonance (MR) in INAD diagnosis, particularly in the frequent occurrence of atypical cases, especially in the early stages of the disease. We retrospectively reviewed the MR studies of eight patients in whom clinical and imaging onset met the typical criteria for INAD. Their clinical and MR imaging (MRI) onset and follow-up were evaluated together with the neuroradiological findings reported in the literature in order to identify MRI features useful in differentiating INAD from other diseases with similar clinical onset and to discuss which of them are the most important, thus suggesting INAD diagnosis. Our contribution included the use of Proton Spectroscopy (1H-MR), diffusion weighted MR imaging (DWI) and diffusion tensor imaging (DTI) in the follow-up of seven of the eight patients. The literature reviewed included attempts to correlate clinical and MR data with the genotype in the group of patients carrying PLA2G6 mutations. From the limited and inhomogeneous cohort of patients included in our study, a correlation between the MR features, phenotype and genotype was not exhaustive

MRI findings in patients with clinical onset consistent with Infantile Neuroaxonal Dystrophy (INAD), literature review, clinical and MRI follow-up

Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive neurodegenerative disorder characterized by infantile onset and rapid progression of psychomotor regression and hypotonia evolving into spasticity. The neuroradiologic hallmark of the disease is represented by progressive cerebellar atrophy. Prior to the discovery of mutations in the PLA2G6 gene in family with INAD, the clinical diagnosis of the disease had been confirmed by the presence of spheroid bodies (SB) in a peripheral nerve biopsy. Various studies have found that some patients with mutations lacked SB and some without mutations had SB, indicating incomplete detection using either pathologic or molecular methods7. This, together with the observation that the spectrum of clinical features associated with mutations in PLA2G6 is broader than previously described, has increased the usefulness of Magnetic Resonance (MR) in INAD diagnosis, particularly in the frequent occurrence of atypical cases, especially in the early stages of the disease. We retrospectively reviewed the MR studies of eight patients in whom clinical and imaging onset met the typical criteria for INAD. Their clinical and MR imaging (MRI) onset and follow-up were evaluated together with the neuroradiological findings reported in the literature in order to identify MRI features useful in differentiating INAD from other diseases with similar clinical onset and to discuss which of them are the most important, thus suggesting INAD diagnosis. Our contribution included the use of Proton Spectroscopy (1H-MR), diffusion weighted MR imaging (DWI) and diffusion tensor imaging (DTI) in the follow-up of seven of the eight patients. The literature reviewed included attempts to correlate clinical and MR data with the genotype in the group of patients carrying PLA2G6 mutations. From the limited and inhomogeneous cohort of patients included in our study, a correlation between the MR features, phenotype and genotype was not exhaustive