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INTRODUCTION: Congenital central hypoventilation syndrome (CCHS) is a rare lifelong disorder characterized by an abnormal ventilatory response with persistent hypercapnia and hypoxia, which worsen during sleep. About 90 % of CCHS individuals are heterozygous for a mutation in the exon 3 of the PHOX2B gene. With higher awareness and better diagnostic tools, cases are identified in late childhood and adulthood, often with distinct mutations. CLINICAL CASE: The authors present a 4-year-old girl admitted to the intensive care unit at 9, 11 and 13 months suffering from severe hypercapnic respiratory failure during viral respiratory infections. Hypercapnia during sleep improved with wakefulness. CCHS was confirmed genetically (heterozygous insertion of an adenine at position 23, leading to a premature stop codon in exon 1 of the PHOX2B gene). The parents' DNA showed no PHOX2B mutations. Hypoventilation was observed by polysomnography, with no autonomic response to declining oxygen or increasing carbon dioxide values. A subsequent sleep study showed less hypoxia and hypercapnia. The patient has been on non-invasive ventilation during sleep, showing good growth and neurocognitive development. DISCUSSION: A greater awareness is required to diagnose late-onset CCHS. A respiratory infection can trigger the disease, with a significant difference in CO2 between sleep and wakefulness as the warning signal. Given the clinical suspicion, a genetic study should be performed. Polysomnography is essential for patient characterization. Follow-up and ventilator support adjustment prevent serious hypoxia and hypercapnia, which impair cardiovascular and neurocognitive functions. This patient's mutation has not been previously described; hence, clinical evolution cannot be predicted.
Asunto(s)
Adenina , Exones/genética , Proteínas de Homeodominio/genética , Hipoventilación/congénito , Mutagénesis Insercional/genética , Apnea Central del Sueño/genética , Factores de Transcripción/genética , Preescolar , Presión de las Vías Aéreas Positiva Contínua , Femenino , Humanos , Hipoventilación/diagnóstico , Hipoventilación/genética , Hipoventilación/terapia , Lactante , Polisomnografía , Apnea Central del Sueño/diagnóstico , Apnea Central del Sueño/terapiaRESUMEN
Narcolepsy, a chronic disorder of the sleep-wake cycle of multifactorial etiology, is characterized by excessive daytime sleepiness, often associated with cataplexy, hypnagogic/hypnopompic hallucinations and sleep paralysis. Both early clinical suspicion and therapeutic approach are essential for promotion of cognitive development and social integration of these children. The authors present a descriptive retrospective study of a series of eight children in whom symptoms first started between 6.8 and 10.5 years of age. Diagnostic delay ranged from 4 months to 2 years. One child had H1N1 flu vaccination eight months before the clinical onset. The first multiple sleep latency test was positive in 6 of 8 cases. All cases were treated with methylphenidate, and venlafaxine was associated in 4 of them. In one case the initial therapy was exclusively behavioral. In all cases, symptomatic improvement, better school performance and social integration were achieved after therapeutic adjustment.
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This article has been withdrawn for editorial reasons because the journal will be published only in English. In order to avoid duplicated records, this article can be found at http://dx.doi.org/10.1016/j.rppnen.2014.03.017. The Publisher apologizes for any inconvenience this may cause. The full Elsevier Policy on Article Withdrawal can be found at http://www.elsevier.com/locate/withdrawalpolicy.
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INTRODUCTION: Pompe disease or glycogen storage disease type II is an autosomal recessive disorder due to acid maltase deficiency. It is a rare disease with a prevalence of 1/40.000 in the dutch and african-american populations and 1/46000 in the australian population. There are three forms of clinical presentation (infantile-onset, childhood-onset and adult-onset), although the disease presents as a continuum of clinical phenotypes. Enzyme replacement therapy is available in Portugal since 2006. MATERIALS AND METHODS: The clinical files of four patients (two sisters) were analyzed retrospectively. RESULTS: In all, disease presented in the second year of life and the time to diagnosis ranged from two to eleven years. At diagnosis, all presented myopathic features with a delay in motor skills achievement and two had myocardium hypertrophy. Clinical suspicion arose as the result of respiratory failure during infection in two patients. Plasma creatine kinase and aminotransferases levels were increased in all. All patients progressed to pulmonary restrictive syndrome with chronic respiratory failure. The diagnosis was based on reduced activity of acid maltase in fibroblasts: 0 to 1.5% of the lower normal value. Muscle biopsy, performed in three patients, showed lysosomal glycogen accumulation. A c.1064T > C mutation in exon 6 of GAA (glucosidase-alpha-acid) gene was found in all patients, in homozygosity in one. In the sisters, it was associated to c.1666A > G and c.2065G > A mutations in exons 12 and 15, respectively and in the youngest patient, to c.380G > T mutation in exon 2. All patients started enzyme replacement therapy as soon as it became available, with good tolerance. The youngest patient died. The surviving patients maintain ventilatory support measures and physiotherapy. The oldest patient is wheelchair ridden and her sister keeps independent walking. The youngest uses a walking aid. CONCLUSIONS: Our cases are clinically included in the juvenile form of Pompe Disease. Pompe disease should be suspected in progressive myopathies at any age, especially those involving limb-girdle and respiratory muscles and in small infants with cardiomyopathy. High creatine kinase is a sensitive, although nonspecific, marker. Given the great variability of the genetic findings, demonstration of reduced activity of acid maltase (in leukocytes or other tissues) remains the diagnosis cornerstone of this rare disorder.
Introdução: A doença de Pompe ou glicogenose tipo II é uma doença autossómica recessiva por deficiência de maltase ácida. É uma entidade rara, com prevalência de 1/40.000 nas populações holandesa e afro-americana e 1/46000 na população australiana. Embora se distingam três formas de apresentação (infantil, juvenil e do adulto), observa-se um amplo espectro clínico. Em Portugal está disponível terapêutica enzimática de substituição desde 2006.Material e Métodos: Fez-se o estudo retrospetivo de quatro doentes (duas das quais irmãs), baseado na revisão dos processos clínicos.Resultados: Em todas, a doença manifestou-se no segundo ano de vida. O tempo até ao diagnóstico variou entre dois e onze anos. Aquando do diagnóstico, todas apresentavam miopatia com atraso de aquisições motoras e em duas havia hipertrofia miocárdica. A suspeita clínica surgiu por insuficiência respiratória em contexto infeccioso em duas doentes. Em todas havia elevação da creatina quinase e das aminotransferases. Todas evoluíram com insuficiência respiratória crónica por síndrome restritiva. O diagnóstico foi baseado na diminuição da atividade da maltase ácida em fibroblastos (0 a 1,5% do limite inferior do normal). Na biópsia muscular, realizada em três doentes, demonstrou-se acumulação lisossómica de glicogénio. Todas apresentavam a mutação c.1064T > C no exão 6 do gene GAA (glucosidase-alpha-acid), em homozigotia numa delas, associada às mutações c.1666A > G no exão 12 e c.2065G > A no exão 15 nas duas irmãs e à mutação c.380G > T no exão 2 na doente mais nova. Todas iniciaram terapia enzimática de substituiçãologo que disponível, com boa tolerância. A doente mais jovem faleceu pouco depois. As outras mantêm medidas de suporteventilatório e fisioterapia, deslocando-se a mais velha, em cadeira de rodas, mantendo a irmã marcha independente e necessitando a mais nova de andarilho.Conclusão: Os nossos casos incluem-se clinicamente na forma juvenil da doença de Pompe. A hipótese de doença de Pompe deve ser considerada em lactentes com miocardiopatia e nas miopatias progressivas, especialmente as das cinturas e dos músculos respiratórios em qualquer idade. A elevação da creatina quinase é um dado sensível, embora inespecífico. Dada a grande variabilidade dos achados genéticos, a demonstração da redução da atividade da maltase ácida continua a ser o pilar do diagnóstico.
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Enfermedad del Almacenamiento de Glucógeno Tipo II/terapia , Adolescente , Preescolar , Femenino , Enfermedad del Almacenamiento de Glucógeno Tipo II/diagnóstico , Humanos , Estudios Retrospectivos , Adulto JovenRESUMEN
BACKGROUND: In the context of the National Health Youth Program, Department of Pediatrics of Santo André Hospital (SAH) has as one of its objectives to extend its age limit up to 18 years of age. OBJECTIVE: To evaluate adolescents' health needs followed up at SAH and to determine the impact of the proposed new age limit policy. METHODS: Retrospective descriptive study that included adolescents (10-18 years old) seen at the emergency department (ED), outpatients or admitted to the pediatric ward between 2000 and 2004. RESULTS: Adolescents represented 7.3% (average) of all the patients seen at SAH during this period. Approximately 11130 adolescents were seen yearly in the ED, 57% of these in the pediatric ED, 39.5% in general ED, and 3.5% in obstetrics/gynecology ED (the majority of these patients were between the ages of 15 and 18). Medical causes represented 53% of the final diagnosis and 43% were surgical related. The average number of outpatients consultations was 7657 per year and of these, 25% were seen by pediatricians (87% were 10 to 14 years of age). The specialties with the greatest number of consultations were: dentistry (13.3%), orthopedics (13.1%), ear, and nose and throat specialist (8.3%), ophthalmology (7.7%), dermatology (7.2%), psychiatric (5.3%) and obstetrics (5.2%). General medicine and other medical specialties were responsible for 6.4% of the consultations. Yearly about 590 adolescents were admitted, 60.3% in the pediatric ward regardless of the underlying cause. The remaining were admitted to the surgical ward, orthopedics ward and obstetrics/gynecology ward. CONCLUSION: With the proposed new age limit policy we expect a 10% overall increase in the numbers of patients in the pediatric ED, 6.4% in the pediatric outpatients and 15.5 as inpatients. Adolescents will represent 33.7 of the pediatrics total inpatients population. Management of the patients will require the development of new installations, the training of medical professionals, both pediatric and adult health careers, that will in the future deal with this patient group.