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Tumor necrosis factor receptor associated periodic syndrome (TRAPS) is a rare monogenic autoinflammatory disease. Its most severe manifestation is secondary amyloidosis. A 44-year-old male presented with nephrotic syndrome. Kidney biopsy was conclusive for secondary amyloidosis. The patient and his children had a history of recurrent febrile periods since infancy. All subjects were positive for a heterozygous variant of the TNFRSF1A gene, confirming TRAPS diagnosis. The patient progressed to end-stage renal failure and developed recurrent pericarditis episodes. He was started on anakinra while on hemodialysis with marked reduction of his serum amyloid A protein (SAA) levels. Meanwhile he received a cadaveric renal transplant and maintains anakinra treatment. Despite renal failure being the most feared complication of AA amyloidosis caused by TRAPS, little data is available about safety of anti-IL-1 treatment in patients with severe kidney failure. The authors report this case of a patient on dialysis treated with anakinra in which no complications were registered. Though amyloidosis is established, the authors believe containing its progression and reducing inflammatory activity can improve patient prognosis and reduce recurrence of amyloidosis in kidney transplant, as has been demonstrated in transplanted patients due to familial Mediterranean fever amyloidosis.

Introdução: O Síndrome de Panayiotopoulos é a segunda epilepsia focal idiopática infantil mais comum, com um pico de incidência aos 4-5 anos. A sua incidência é subestimada devido às manifestações clínicas atípicas, caracterizando-se por crises com predomínio de sintomas autonómicos. Caso clínico: Descreve-se um caso clássico de Síndrome de Panayiotopoulos, com crises recorrentes, com boa resposta à terapêutica antiepiléptica e remissão após alguns anos. Conclusão: Salienta-se a importância da suspeição clínica deste síndrome epiléptico e a utilidade do registo electroencefalográfico que inclua um período de sono. Na maioria dos casos o prognóstico é bom, apesar de ser necessário manter o tratamento por um período de tempo variável.

Introduction: Typical absence seizures are quite common in chidhood, in most cases fitting the criteria for childhood absence epilepsy. Differential diagnosis is mainly with inattention and focal hypomotor seizures. Response to adequate antiepileptic drug therapy is usually very good. Case report: We report a classical case of a school-age girl with many episodes per day of staring and eye rolling with a duration of some seconds. Hyperventilation during her first appointment elicited short-duration absences with slight eye blinking. The ictal video-EEG confirmed the diagnosis, showing generalized synchronous bursts of 3 Hz spike-wave discharges with a medium duration of eight seconds. The response to therapy with valproic acid was dramatic, and medication was withdrawn at the age of eleven with no recurrence of seizures. Conclusion: The most frequent epileptic syndrome with typical absences is childhood absence epilepsy. When inclusion and exclusion criteria are taken in consideration, we can expect a good prognosis, with remission by prepubertal age.

Submitted by Revista Nascer e Crescer (nascerecrescer.hmp@chporto.min-saude.pt) on 2013-04-23T14:58:54Z No. of bitstreams: 1 v21n3a08.pdf: 540560 bytes, checksum: c59dad4faf130df2282c8fdc3d42d104 (MD5) Made available in DSpace on 2013-04-23T14:58:54Z (GMT). No. of bitstreams: 1 v21n3a08.pdf: 540560 bytes, checksum: c59dad4faf130df2282c8fdc3d42d104 (MD5) Previous issue date: 2012-09

Submitted by Revista Nascer e Crescer (nascerecrescer.hmp@chporto.min-saude.pt) on 2012-06-25T14:20:05Z No. of bitstreams: 1 v20n2a12.pdf: 256825 bytes, checksum: 4c724800a95dea6851897a53b5ded34a (MD5) Made available in DSpace on 2012-06-25T14:20:05Z (GMT). No. of bitstreams: 1 v20n2a12.pdf: 256825 bytes, checksum: 4c724800a95dea6851897a53b5ded34a (MD5) Previous issue date: 2011-06

Introduction: Subacute sclerosing panencephalitis is a very rare disease in countries with measles vaccination programs, and is due to a persistent infection by a defective measles virus. The disease has a progressive fatal course. Case report: We describe the case of a 13 year-old boy with a progressive clinical picture of cognitive impairment, myoclonus, and pyramidal, extrapyramidal and cerebellar signs. The diagnosis was based upon clinical manifestations, the presence of characteristic periodic EEG discharges, and the demonstration of raised antibody titres against measles in the plasma and cerebrospinal fluid. Conclusions: Diagnosis of subacute sclerosing panencephalitis is based on clinical suspicion, very characteristic electroencephalographic abnormalities (typical periodic complexes) and raised antibodies to measles virus in the cerebrospinal fluid. It seldom occurs in patients with immunisation against measles, except in those with early onset of measles.

Submitted by Revista Nascer e Crescer (nascerecrescer.hmp@chporto.min-saude.pt) on 2012-06-26T12:25:14Z No. of bitstreams: 1 v19n4a12.pdf: 259522 bytes, checksum: c61fb9874b84b03a9ea733551e250fbc (MD5) Made available in DSpace on 2012-06-26T12:25:14Z (GMT). No. of bitstreams: 1 v19n4a12.pdf: 259522 bytes, checksum: c61fb9874b84b03a9ea733551e250fbc (MD5) Previous issue date: 2010-12

Submitted by Revista Nascer e Crescer (nascerecrescer.hmp@chporto.min-saude.pt) on 2012-06-26T10:33:21Z No. of bitstreams: 1 v19n3a09.pdf: 264703 bytes, checksum: 0ccd77f0cc65ed86076d531bf17374b6 (MD5) Made available in DSpace on 2012-06-26T10:33:21Z (GMT). No. of bitstreams: 1 v19n3a09.pdf: 264703 bytes, checksum: 0ccd77f0cc65ed86076d531bf17374b6 (MD5) Previous issue date: 2010-09

Submitted by lara martins (laramartins.defi@chporto.min-saude.pt) on 2011-06-01T10:46:59Z No. of bitstreams: 1 v19n1artCElec.pdf: 192079 bytes, checksum: c576df1352c9fb9ffde3cb0b96dbe56d (MD5) Made available in DSpace on 2011-06-01T10:46:59Z (GMT). No. of bitstreams: 1 v19n1artCElec.pdf: 192079 bytes, checksum: c576df1352c9fb9ffde3cb0b96dbe56d (MD5) Previous issue date: 2010

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Submitted by lara martins (laramartins.defi@chporto.min-saude.pt) on 2011-06-15T12:57:39Z No. of bitstreams: 1 v19n2artCElect.pdf: 149152 bytes, checksum: e0db0cee9d92ec4724e97675a04b41f5 (MD5) Made available in DSpace on 2011-06-15T12:57:39Z (GMT). No. of bitstreams: 1 v19n2artCElect.pdf: 149152 bytes, checksum: e0db0cee9d92ec4724e97675a04b41f5 (MD5) Previous issue date: 2010

RESUMO Os espasmos de choro são uma entidade clínica frequente que, no entanto, assusta os pais e são motivo de consulta para grande número de crianças. A sua apresentação clínica, apesar de típica, pode não ser suficiente para um diagnóstico correcto, sendo importante o diagnóstico diferencial com outras patologias. Os espasmos de choro têm sido associados a perturbações do comportamento, mas esta relação não está completamente esclarecida. Com esta revisão procura-se esclarecer a associação entre espasmos de choro e perturbações de comportamento. Apresenta-se uma revisão bibliográfica actual versando a fisiopatologia, apresentação clínica, diagnósticos diferenciais, complicações e tratamento dos espasmos de choro e faz-se uma apreciação da influência destes no comportamento dos pais e a sua associação com alterações do desenvolvimento psicoafectivo da criança. Conclui-se que os espasmos de choro podem conduzir, nos pais e cuidadores, a comportamentos desajustados que condicionam muitas vezes perturbações do comportamento nestas crianças. É importante diagnosticar atempadamente esta situação para orientar os pais na sua conduta, evitando o desenrolar desses comportamentos, assim contribuindo para uma promoção da saúde mental da criança e cuidadores. ABSTRACT Breath-holding spells are common, but they usually frighten parents and they are a reason for seeking medical attention for many children. Although they course with a typical sequence of events, sometimes this is not sufficient to make the diagnosis, and the exclusion of other medical conditions is required. Breathholding spells have been related to behavioural problems but this association is not completely clear. The aim of this review is to clarify the relation between breath-holding spells and behavioural problems in children. We present an up-to-date review concerning the physiopathology, clinical presentation, differential diagnosis and treatment of breath-holding spells, and make some considerations about its influence in parental behaviour and its effects in child’s psycho-affective development. We conclude that breath-holding spells may be in the origin of some maladaptative behaviour in parents that may lead to disturbed behaviours in their child. Early assessment and diagnosis are very important in order to prevent this circuit of misbehaviours and to promote infant’s and toddler‘s mental health.

Auto-gratification disorder is often misdiagnosed as other paroxysmal events, namely epileptic seizures. It typically occurs in female infants and begins during the first year of life. The episodes are stereotyped and some clinical issues can strongly suggest the diagnosis. Home video may lead to the diagnosis and avoid unnecessary investigations. An illustrative case of a 9 month-old baby female is presented. The events had been initially diagnosed as epileptic fits. Video-EEG disclosed a normal tracing, even during the typical “attack”: posture with contraction of the limbs, rubbing hands, hip flexion and knee extension with scissoring of the lower limbs, facial flush and perspiration; it was stopped by distracting her.

We present the case of a boy with in utero diagnosis of tuberous sclerosis (TS), suspected by the finding of cardiac rabdomyomas and confirmed by fetal brain MRI with typical subependymal nodules and sucortical tubers. We emphasise that epileptic spasms are very frequent and usually the presenting seizures is TS, as occurred in our patient. Electroencephalogram revealed an atypical hypsarrythmia, and the patient responded to vigabatrin. The need to be aware of this epileptic encephalopathy in TS and the importance of an early treatment are underlined.

Submitted by Revista Nascer e Crescer (nascerecrescer.hmp@chporto.min-saude.pt) on 2013-05-08T12:18:48Z No. of bitstreams: 1 ConvulcaoRabdomiolise_18-4.pdf: 116960 bytes, checksum: 586646a4adc4ec52107ab98fab0cd657 (MD5) Made available in DSpace on 2013-05-08T12:18:48Z (GMT). No. of bitstreams: 1 ConvulcaoRabdomiolise_18-4.pdf: 116960 bytes, checksum: 586646a4adc4ec52107ab98fab0cd657 (MD5) Previous issue date: 2009-12