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  • Another Twist in the Tale: Intrafamilial Phenotypic Heterogeneity in ANO3‐Related Dystonia
    Publication . Carvalho, Vanessa; Martins, Joana; Correia, Filipe; Costa, Manuela; Massano, João; Temudo, Teresa
  • Epilepsy in paediatric patients with Parry-Romberg syndrome: A review of the literature
    Publication . Rocha, Ruben; Kaliakatsos, Marios
    Background: Parry-Romberg syndrome (PRS) is a rare disorder characterized by unilateral slow progressive facial atrophy that can be associated with neurologic manifestations, namely seizures. There is scarce data about seizures in paediatric patients with PRS. The aim of our work was to clarify the clinical features of paediatric patients with PRS and seizures. Methods: We performed a literature review based on a literature search using PubMed and EMBASE databases. We included original articles in which the main diagnosis was PRS and the patients were 17 years old or less when the first seizure occurred. Results: We included 40 patients. Most of the patients had previously normal development and had their first seizure in the first decade of life. Neurologic examination was abnormal in 56 % of patients. Seizures are typically focal, frequently with impaired awareness, and became refractory in about 40 % of patients. Few patients have generalized seizures. On electroencephalogram, epileptic discharges are generally focal, on the same side as the facial atrophy, without a predominant cerebral lobe localization. Brain MRI is almost always abnormal, typically with T2 subcortical hyperintensities, and sometimes brain atrophy or calcifications. In addition to the classic antiepileptic drugs, immunosuppressive drugs should be considered as potential epilepsy treatment. Conclusion: To the best of our knowledge, this is the first review dedicated to the characteristics of paediatric patients with PRS and epilepsy. Seizures are usually focal, became refractory in 40 %, and have a significant impact on the quality of life and neurodevelopment of patients.
  • Neonatal Cholestasis Over Time: Changes in Epidemiology and Outcome in a Cohort of 154 Patients from a Portuguese Tertiary Center
    Publication . Santos Silva, Ermelinda; Almeida, Alexandra; Frutuoso, Simão; Martins, Esmeralda; Valente, Maria João; Santos-Silva, Alice; Lopes, Ana Isabel
    Introduction: In the last two decades there have been advances in the diagnosis and management of neonatal cholestasis, which may have changed its epidemiology, diagnostic accuracy, outcomes, and survival. Our goal was to characterize these changes over time in our setting. Methods: Retrospective cohort study in a tertiary center, enrolling patients born between January 1985 and October 2019. The cohort was divided into two periods, before (A; n = 67) and after (B; n = 87) the year 2000; and in two groups, according to patient's outcome (favorable, unfavorable). Overall survival and survival with and without orthotopic liver transplant (OLT) were evaluated in the two periods (A and B) and in different subgroups of underlying entities. Results: We found that the age of cholestasis recognition decreased significantly from period A to period B [median 43 days and 22 days, respectively, (p < 0.001)]; the changes in epidemiology were relevant, with a significant decrease in alpha-1-antitrypsin deficiency (p < 0.001) and an increase in transient cholestasis (p = 0.004). A next-generation sequencing (NGS) panel available since mid-2017 was applied to 13 patients with contributory results in 7, but, so far, only in 2 patients led to conclusive diagnosis of underlying entities. The number of cases of idiopathic cholestasis did not vary significantly. Over time there was no significant change in the outcome (p = 0.116). Overall survival and survival without OLT had no significant improvement during the period of observation (in periods A and B, 86 vs. 88%, and 85 vs. 87%, respectively). However, in period B, with OLT we achieved the goal of 100% of survival rate. Conclusions: Our data suggest that transient cholestasis became a very important subset of neonatal cholestasis, requiring specific guidance. The NGS panels can provide important inputs on disease diagnosis but, if applied without strict criteria and expertise, they can open a Pandora's box due to misinterpretation. Despite all the advances in accurate diagnosis and timely management-including early recognition of cholestasis-the improvement in patient outcomes and survival were still not significant.
  • [A rare early-onset dystonia (DYT16) in a Portuguese girl]
    Publication . Almeida, S.; Rangel, M.; Neiva, C.; Carrilho, I.; Leao, M.; Santos, F.; Vila Real, M.
    Distonia temprana poco frecuente (DYT16) en una niña portuguesa.
  • Cefalea racimos en una niña de 3 años
    Publication . Garrido, C.; Tuna, A.; Ramo, S.; Temudo, T.
    Summary. Introduction. Cluster headache is a rare disorder in childhood. We identified, in the literature, 64 cases of cluster headache starting at or before 18 years (only 17 of them began before 10 years old). All patients met the criteria of the International Headache Society. Russell et al demonstrated recently that the cluster headache is an inherited disorder in some families. They conclude that the gene is present in 3 to 4% of males and 7 to 10% of females with cluster headache and that it has an autossomal dominant transmission. Clinical case. The authors report the clinical case of a five-year-old child with cluster headache starting at three years. This paper reviews the differential diagnosis and the treatment of cluster headache
  • Enfermedad de Schilder: dos nuevos casos
    Publication . Garrido, C.; Levy-Gomes, A.; Teixeira, J.; Temudo, T.
    Summary. Introduction. Schilder’s disease, or diffuse myelinoclastic sclerosis, is an infrequent disease that presents clinically as a pseudotumoural demyelinating lesion, which makes its diagnosis more complicated as it can be mistaken for a tumour or an abscess. Case reports. We examine the case of a male who was healthy up to the age of 8 years, when symptoms of a left hemiparesis appeared with a subacute onset and which were associated to symptoms of intracranial hypertension. A brain CAT scan showed a hypodense lesion in the right temporoparietal region, and the hypothesis of a tumoural lesion (astrocytoma) was suggested. Treatment was started with dexamethasone and furosemide, and a complete regression of the symptoms and a considerable decrease in the cerebral lesion were observed. The second case is that of a female adolescent who, at the age of 11, developed a clinical picture of subacute onset of left hemiplegia. A brain CAT scan revealed hypodense lesions with ring-shaped contrast enhancement. In view of the histological diagnosis of an astrocytoma, radiotherapy and corticotherapy were started. After two months’ treatment, a sharp involution of the lesions was observed, which led to the acceptance of the diagnostic hypothesis of Schilder’s disease. Both children presented recurrence of the lesions three years and nine months, in the first and second case respectively, after the first episode. Treatment with corticoid therapy was started with good clinical and radiological responses. Conclusions. In the presence of a neurological deficit with a subacute onset, associated to a brain image showing a ‘tumoural’ lesion containing an important amount of oedema and little mass effect, diagnoses other than that of a brain tumour must be taken into account. It thus becomes possible to avoid invasive forms of treatment, such as surgical resection, which entail a number of sequelae.
  • [Infection due to Mycoplasma pneumoniae: three cases with neurological complications].
    Publication . Cunha, J.; Madalena, C.; Guimarães, P.; Sousa, A.; Temudo, T.
    Summary. Introduction. Mycoplasma pneumoniae infection has been associated with severe central nervous system diseases. The pathogenesis of these disorders is unknown and the treatment uncertain. Case reports. The authors present three cases of central nervous system diseases: acute transverse myelitis, cerebellitis and encephalomyelitis associated with M. pneumoniae infection. Conclusions. M. pneumoniae infection should be considered in all cases of severe acute central nervous system symptomatology. El Mycoplasma pneumoniae es un agente implicado frecuentemente en infecciones respiratorias de niños y adultos [1,2]. Se pueden producir complicaciones extrarrespiratorias básicamente mucocutáneas (eritema multiforme, eritema nudoso, síndrome de StevenJohnson), cardíacas (miocarditis, pericarditis), articulares (artritis), hematológicas (anemia hemolítica, trombocitopenia, coagulación vascular diseminada), pancreatitis, salpingitis y complicaciones neurológicas [13]. La implicación del sistema nervioso central (SNC) se estima en aproximadamente un 0,1% del total de infecciones producidas por M. pneumoniae, y puede afectar al 7% de los pacientes hospitalizados a causa de una infección producida por este agente [2,3]. Las complicaciones neurológicas incluyen: encefalitis, meningoencefalitis, encefalomielitis, polirradiculoneuropatía (como el síndrome de GuillainBarré), cerebelitis, psicosis, mielitis transversa y coma [14]. Presentamos tres casos clínicos con complicaciones neurológicas en el contexto de una infección por M. pneumoniae (mielitis transversa, cerebelitis, encefalomielitis), cuyo diagnóstico se estableció a partir de los análisis clínicos y los exámenes auxiliares de diagnóstico efectuados, principalmente las serologías seriadas. A infecção por Mycoplasma pneumoniae tem sido associada a múltiplas complicações neurológicas. A patogénese destas permanece incerta e o seu tratamento controverso. Casos clínicos. Os autores apresentam três casos de complicação neurológica em contexto de infecção pelo M. pneumoniae: mielite transversa, cerebelite e encefalomielite. Conclusão. A infecção por M. pneumoniae deve ser considerada em todos os casos de sintomatologia severa aguda do sistema nervoso central
  • Tics en niños y adolescentes:análisis retrospectivo de 78 casos
    Publication . Prior, C.; Tavares, S.; Figueiroa, S.; Temudo, T.
    Introducción Los tics son el trastorno del movimiento más frecuente en la edad pediátrica. Es común la existencia de historia familiar de tics y de antecedentes familiares y personales de trastornos neurocomportamentales. Los tics pueden comprometer de modo importante las actividades de la vida diaria del individuo. Objetivo Estudio de las características de los tics de niños y adolescentes de la Consulta de Neuropediatría del Hospital Geral de Santo António. Materiales y métodos Análisis retrospectivo de los casos de tics usando la información recogida de las respectivas historias clínicas. Se utilizaron los criterios del Manual diagnóstico y estadístico de los trastornos mentales en su cuarta revisión de textos (DSM-IV-TR) de 2000, de la Asociación Americana de Psiquiatría. Resultados Fueron analizadas las historias clínicas de 78 individuos, 84,6 % de los cuales eran del sexo masculino. Más de un tercio de los casos pertenecía al grupo etario de los 4 a los 8 años de edad. En el 5,1% los tics se iniciaron antes de los 2 años. Historia familiar de tics, depresión y trazos de enfermedad obsesivo-compulsiva ocurrieron en aproximadamente un 30 % de los casos. La comorbilidad más frecuente fue el trastorno por déficit de atención e hiperactividad (TDAH) (67,9%). Se verificó la posible ocurrencia de trastorno neuropsiquiátrico autoinmune pediátrico (PANDAS) en 5 casos. Los tics motores precedieron a los vocales en todos los casos. En más de dos tercios los tics eran simples. En el 59,0 % de los casos los tics eran crónicos, y el 45,7 % de éstos cumplían criterios de trastorno de Gilles de la Tourette. El 43,1 % de los individuos con tics crónicos habían sido medicados, la mayoría con risperidona. Conclusiones De un modo general los resultados de este estudio son concordantes con los descritos en la literatura especializada, subrayándose la necesidad de considerar el diagnóstico en edades precoces, y señalándose la importancia de identificación y terapéutica adecuada de las comorbilidades.Introduction Tics are the most frequent abnormal movement in children. A familial history of tics and a personal and familial history of neurobehavioral disturbances are common in children with this abnormality. Tics may seriously compromise daily activities in affected individuals. Objective To identify the characteristics of tics in children and adolescents followed-up in the Neuropediatric Unit of the Hospital Geral de Santo António. Materials and methods We performed a retrospective analysis of patients with tics based on information collected from medical records. The diagnostic criteria of the DSM IV-TR 2000 of the American Psychiatric Association were used. Results The medical records of 78 children were analyzed, 84.6% of whom were boys. More than one third of the patients were aged 4 to 8 years old. In 5.1% of the patients tics developed before the age of 2 years. A familial history of tics, depression and obsessive disorder traits was found in approximately 30 % of patients. The most frequent comorbidity was attention deficit hyperactivity disorder (67.9 %). The occurrence of pediatric autoimmune neuropsychiatric disorders associated with streptococcus infection (PANDAS) was suggested in five patients. In all patients, motor tics occurred before vocal tics. In more than two thirds of the patients, tics were simple. In 59.0% of the patients, tics were chronic, and in 45.7% of these met the criteria for Tourette’s syndrome. A total of 43.1% of the patients with chronic tics received pharmacotherapy, risperidone being the most frequently used drug. Conclusions In general the results of the present study are in agreement with those of previous studies, underlining the need to consider a diagnosis of tics in young children and highlighting the importance of identification and appropriate treatment of comorbidities.
  • Opsoclonus myoclonus syndrome: how long are we going to go on researching?]
    Publication . Ramos, S.; Temudo, T.
    Rev Neurol. 2002 Aug 16-31;35(4):322-5. [Opsoclonus myoclonus syndrome: how long are we going to go on researching?] [Article in Spanish] Ramos S, Temudo T. Interna complementar de Pediatria. Serviço de Pediatria. Hospital Geral de Santo Antonio, Porto, Portugal. teresatemudo@netcabo.pt Abstract INTRODUCTION: Opsoclonus myoclonus is a rare neurological syndrome affecting children and adults, and which is characterised by a sudden onset of chaotic eye movements and myoclonias. In children it generally appears before the age of three as a parainfectious or paraneoplasic process; the type of tumour most frequently associated with this syndrome is the neuroblastoma. CASE REPORT: We report the case of a 22 month old girl who, after a febrile syndrome probably caused by a virus, began to present myoclonias in the upper and lower limbs, opsoclonus, a marked ataxic gait and extreme irritability. After ruling out neoplasia, oral corticotherapy was started and the neurological picture gradually improved. CONCLUSION: By reporting this clinical picture, our intention is to make the particular aspects of this neurological condition known, and highlight the need for neoplasias to be detected in time and for early treatment in order to prevent sequelae, especially when it appears as a paraneoplasic syndrome. PMID: 12235560 [PubMed - indexed for MEDLINE]
  • Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndrome.
    Publication . Ramaekers, V.T.; Sequeira, J.M.; Artuch, R.; Blau, N.; Temudo, T.; Ormazabal, A.; Pineda, M.; Aracil, A.; Roelens, F.; Laccone, F.; Quadros, E.V.
    Neuropediatrics. 2007 Aug;38(4):179-83. Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndrome. Ramaekers VT, Sequeira JM, Artuch R, Blau N, Temudo T, Ormazabal A, Pineda M, Aracil A, Roelens F, Laccone F, Quadros EV. Division of Pediatric Neurology, University Hospital Aachen, Germany. vramaekers@skynet.be Abstract Rett syndrome was associated with low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5MTHF) in 42-50% of European patients whereas approximately 93% of the patients from North-America had a normal CSF 5MTHF status. We determined the CSF folate status in Rett patients living in North- and South-Western Europe and measured serum folate receptor (FR) autoantibodies of the blocking type to explain the reduced folate transport across the choroid plexus. Irrespective of their MECP2 genotype and despite normal plasma folate values, 14 of 33 Rett patients (42%) had low CSF folate levels. Blocking FR autoantibodies were found in 8 of the Rett patients (24%), 6 of whom had low CSF folate levels. FR autoimmunity was primarily found within the group of Rett patients with low CSF folate status with a higher incidence in North-Western Europe. In Rett patients from North-America 74 of 76 girls had higher folate values in both serum and CSF than European patients. The food folate fortification in North-America may account for the higher folate levels and may prevent CFD in these Rett patients. FR autoimmunity occurred predominantly in Rett patients from North-Western Europe and may contribute to cerebral folate deficiency (CFD). PMID: 18058624 [PubMed - indexed for MEDLINE]