1,720,993 research outputs found
GLUT1 DEFICIENCY: A MILD PHENOTYPE IN A 4 YEARS OLD FEMALE WITH EARLY ONSET ABSENCES AND ATAXIA
No full textIntroduction: Glucose (GLUT1) transporter 1 deficiency (OMIM 606777) is a polymorphic syndrome including an epileptic encephalopathy, early onset absences, complex movement disorders and developmental delay. Case report: We present the case of a 4 year old female with episodes of recurrent staring since the age of 3 months and fluctuating ataxic gait when awakening since the age of 2 years and 6 months. Symptoms were exacerbated at awakening and with fasting. Psychomotor development was only mildly impaired. Electroencephalogram evidenced diffuse epileptiform discharges with the prominent involvement of the anterior regions. Seizures have been well controlled with valproic acid. Brain MRI was negative. Lumbar puncture showed a CSF/blood glucose ratio of 0,28.Molecular investigation on SLC2A1 gene revelaed a heterozygosis for the mutation c.274 C>T (p.Arg92Trp). Discussion: GLUT1 deficiency have an expanding phenotype. Our experience evidences that the pattern of GLUT 1 deficiency includes different ranges of clinical severity. This is probably due to differences in the functional impairment of the transporter
Parkinsonism in children: Clinical classification and etiological spectrum
No full textInfantile- and childhood-onset parkinsonism is mainly due to genetic alterations and is an exceedingly rare condition, unlike Parkinson's disease (PD), which is one of the most common neurologic disorders in adulthood. The clinical characterization of parkinsonism during early stages of neuromotor development is controversial due to the lack of consensus regarding the clinical criteria of PD or parkinsonism in the immature brain. The classification here proposed is based on a review of conditions that emerge during infancy and childhood, with key symptoms evocative of adult parkinsonism. The proposed nosography is based on age at presentation, clinical features, outcome, and etiological background. It includes developmental parkinsonism, infantile degenerative parkinsonism, parkinsonism in the setting of neurodevelopmental disorders, parkinsonism in the setting of multisystem brain diseases, juvenile parkinsonism and dystonia-parkinsonism, and acquired parkinsonism. The subgroups denoting peculiar clinical presentations as a consequence of disease impact on the immature brain are developmental parkinsonism due to monoamine metabolic disorders and infantile degenerative parkinsonism caused by DAT and WASR2 defects. More tardive parkinsonisms occur in genetic conditions that cause a generalized derangement of neurodevelopmental processes, such as those due to MECP2, NR4A2, SCN1A, and RAB39B. Some conditions presenting with neurodevelopmental disorder can progress later, disclosing their neurodegenerative nature (i.e. WDR45 and KCND3). Finally, new emerging conditions with childhood-onset parkinsonism arise from the cumulative effect of multiple genetic lesions
Motor, epileptic, and developmental phenotypes in genetic disorders affecting G protein coupled receptors-cAMP signaling
Full text linkOver the last years, a constantly increasing number of genetic diseases associated with epilepsy and movement disorders have been recognized. An emerging group of conditions in this field is represented by genetic disorders affecting G-protein-coupled receptors (GPCRs)–cAMP signaling. This group of postsynaptic disorders includes genes encoding for proteins highly expressed in the central nervous system and involved in GPCR signal transduction and cAMP production (e.g., GNAO1, GNB1, ADCY5, GNAL, PDE2A, PDE10A, and HPCA genes). While the clinical phenotype associated with ADCY5 and GNAL is characterized by movement disorder in the absence of epilepsy, GNAO1, GNB1, PDE2A, PDE10A, and HPCA have a broader clinical phenotype, encompassing movement disorder, epilepsy, and neurodevelopmental disorders. We aimed to provide a comprehensive phenotypical characterization of genetic disorders affecting the cAMP signaling pathway, presenting with both movement disorders and epilepsy. Thus, we reviewed clinical features and genetic data of 203 patients from the literature with GNAO1, GNB1, PDE2A, PDE10A, and HPCA deficiencies. Furthermore, we delineated genotype–phenotype correlation in GNAO1 and GNB1 deficiency. This group of disorders presents with a highly recognizable clinical phenotype combining distinctive motor, epileptic, and neurodevelopmental features. A severe hyperkinetic movement disorder with potential life-threatening exacerbations and high susceptibility to a wide range of triggers is the clinical signature of the whole group of disorders. The existence of a distinctive clinical phenotype prompting diagnostic suspicion and early detection has relevant implications for clinical and therapeutic management. Studies are ongoing to clarify the pathophysiology of these rare postsynaptic disorders and start to design disease-specific treatments
EARLY ONSET PARKINSONISM: A NEW CLINICAL AND BIOCHEMICAL PHENOTYPE
No full textA growing number of metabolic and degenerative diseases results in infantile parkinsonism. We report on a new clinical and biochemical phenotype so far not associated to any known aetiology. This 5-year-old child was born from non-consanguineous Italian parents after uneventful pregnancy and normal delivery. Psychomotor development was normal up to 4 months, when minimal tremor, upper limb dystonia and rigidity were detected. At 8 months neurological deterioration occurred associated with limb jerks, generalised hypokinesia/dystonia, and akinetic mutism. CSF examination disclosed low homovanillic acid (HVA) (185.5 nmol/L, r.v. 295-932), neopterin (7.8 nmol/L, r.v. 12-30), and biopterin (5.5 nmol/L, r.v. 15-40). TH and of GCH1 geneswere both normal. L-Dopa/Carbidopa treatment resulted in a partial clinical improvement. From the age of 4, diurnal fluctuations of symptoms and severe on/off phenomena required a progressive increase of L-Dopa/Carbidopa posology. Social interaction and language comprehension remained relatively spared. A further decline of HVA (77 nmol/L; r.v. 211-871) was found in CSF. SR, PTPS, GFRP genes sequences, and Array-CGH did not detect any alterations. Repeated Brain MRI and 1 H-MRS as well as an extensive neurogenetic and neurometabolic work-up were all normal. Dopamino-mimetic/synergic drugs (Selegilina, Tolcapone, Rotigotina, Pramipexole) proved to be ineffective
TRANSDERMAL ROTIGOTINE AS A COMEDICATION IN THE TREATMENT OF CONGENITAL DISORDERS OF BIOGENIC AMINE
No full textBackground: Rotigotine is a novel non-ergot dopamine agonist, with effects on the biogenic amine neurotransmissions. For this reason we have used transdermal rotigotine in three congenital disorders of these neurotransmitters: Aromatic L-Aminoacid decarboxylase (AADC) deficiency (OMIM # 608643), Tyrosine hydroxilase (TH) deficiency (OMIM # 191290) and Dopamine transporter (DT) deficiency (OMIM # 126455). Case Report: In a 11 years old boy with AADC the replacement of pergolide with transdermal rotigotine resulted in an improvement of trunkal stability, head control and motor planning. A faster and more autonomous walking without support, a faster execution of motor tasks and an increase of muscular strength were observed. A similar improvement was also observed in a 15 years old male with TH deficiency. In this case the benefits were transitory and after some weeks a severe bradykinesia was observed. The discontinuation of rotigotine and its replacement with levo-dopa removed this last side effect. In a 4 years, 7 months old boy with a DT deficiency no clinical effects were obtained while bradykinesia , somnolence and asthenia. Conclusions: our experience suggests that transdermal rotigotine is a promising treatment in the therapeutic management of AADC deficiency. No results have been obtained in TH and DT deficiency
Fever-Induced and Early Morning Paroxysmal Dyskinesia in a Man With GNB1 Encephalopathy
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Misdiagnosis of functional neurological symptom disorders in paediatrics: Narrative review and relevant case report
No full textFunctional neurological symptom disorders (FNSD) pose a common challenge in clinical practice, particularly in pediatric cases where the clinical phenotypes can be intricate and easily confused with structural disturbances. The frequent coexistence of FNSDs with other medical disorders often results in misdiagnosis. In this review, we highlight the distinctions between FNSD and various psychiatric and neurological conditions. Contrary to the misconception that FNSD is a diagnosis of exclusion, we underscore its nature as a diagnosis of inclusion, contingent upon recognizing specific clinical features. However, our focus is on a critical learning point illustrated by the case of a 14-year-old male initially diagnosed with FNSD, but subsequently found to have a rare primary monogenic movement disorder (paroxysmal kinesigenic dyskinesia, PKD). The crucial takeaway from this case is the importance of avoiding an FNSD diagnosis based solely on psychiatric comorbidity and suppressible symptoms. Instead, clinicians should diligently assess for specific features indicative of FNSD, which were absent in this case. This emphasizes the importance of making a diagnosis of inclusion. Extended follow-up and clinical-oriented genetic testing might help identify comorbidities, prevent misdiagnosis, and guide interventions in complex cases, which cannot be simply classified as "functional" solely because other conditions can be excluded.Understanding and Avoiding Mistakes in Diagnosing Children with Functional Neurological Symptom Disorders: A Review and Case Report: This article discusses Functional Neurological Symptom Disorders (FNSDs), focusing on misdiagnosis, differential diagnosis, and other diagnostic challenges, particularly in pediatric cases. FNSDs involve motor or sensory symptoms that are inconsistent over time and unexplained by neurological disease, often associated with psychosocial factors. The article highlights the complexity of distinguishing FNSDs from other neurological and psychiatric conditions, emphasizing the importance of careful evaluation. The authors review various conditions that can mimic FNSDs, such as epileptic seizures, syncope, and different motor disorders. They emphasize the need to consider psychiatric conditions in the differential diagnosis, including factitious disorders, and malingering. The article presents a case study of a 14-year-old with involuntary movements, initially diagnosed as having a Functional Movement Disorder. After careful evaluation, the patient was diagnosed with a genetic dystonia (PRRT2 mutation). The case shows the importance of not rely solely on psychological problems, bizarre presentations or suppressible symptoms when diagnosing FNSDs
Theory of mind in non-suicidal self-injury (NSSI) adolescents
Full text linkThe aim of the present study is to investigate different facets of the theory of mind (ToM), i.e. first vs. thirdperson,
first vs. second-order ToM, egocentric vs. allocentric perspective, in a clinical sample of 20 non-suicidal
self-injury (NSSI) adolescent inpatients and 20 healthy controls.
Methods: We investigated whether performance in ToM tasks was related to both the type and frequency
of self-injuring behavior and attitude toward life and death, using a semi-structured interview and different
self-report questionnaires.
Results: NSSI participants performed less well than the control group in all the ToM dimensions investigated.
Furthermore, ToM performance was negatively related to Attraction to Death, in terms of both the
type and frequency of self-injuring behavior, and it was positively related to Attraction to Life.
Conclusions: These preliminary findings have interesting implications for future clinical investigations,
in that they provide previously unavailable information regarding the association between ToM and NSSI
behavior
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
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