Pediatric Sjögren Syndrome: Case Report On A Rare Entity.

Pediatric Sjögren's Syndrome (SS) is an auto-immune disorder of unknown prevalence with significant risk of comorbidity. In contrast to the classical dyad of xerostomia and xeropthalmia frequently seen in adults, in children and adolescents, recurrent parotiditis and sialadenitis are more often the presenting symptoms. We describe the case of a previously healthy 16-year-old girl with recurrent cervical lymphadenopathy and parotid swelling. Over the course of nine months, extensive investigation established chronic bilateral recurrent sialadenitis of unknown cause. The patient's clinic and complementary exams favor a primary SS diagnosis; however, she later meets classification criteria for Systemic Lupus Erythematosus. Although currently clinically stable under hydroxychloroquine with minor parotid swelling and eye redness, long term multidisciplinary follow-up will be needed to manage the patient's disease. This report aims to bring awareness to this diagnostic challenge and to the need for pediatric criteria for SS.

Novel CACNA1S mutation in hypokalaemic periodic paralysis.

A 15-year-old girl was admitted to emergency department with an acute flaccid tetraparesis with no other symptoms. A history of recurrent similar episodes with spontaneous recovery was reported and no family history was known. Laboratory tests revealed severe hypokalaemia and hypokaluria. Symptoms resolution occurred after potassium replacement. The diagnosis of hypokalaemic periodic paralysis (HPP) was confirmed by genetic testing, which revealed a not previously described mutation in CACNA1S gene (c.3715C>G p.Arg1239Gly). HPP is a rare neuromuscular disorder that causes episodic attacks of flaccid paralysis with concomitant hypokalaemia. Primary forms of the disease are skeletal muscle ion channelopathies. HPP occurs due to a problem in potassium distribution rather than a total body potassium deficiency. Therefore potassium replacement should be carefully performed because of the risk of rebound hyperkalaemia. Knowing this rare entity is important in order to avoid diagnostic delays and so that proper treatment can be initiated to reduce morbidity and mortality.

Effect of ultra-rapid insulin aspart on glycemic control in children with type 1 diabetes: the experience of a Portuguese tertiary centre.

Background: Postprandial hyperglycemia is one of the biggest challenges in children with type 1 diabetes (T1D). Ultra-fast-acting aspartic insulin (faster aspart) has a quicker onset of action and an earlier maximum activity. The aim of this study is to analyze the impact of faster aspart in metabolic control of pediatric patients with T1D in a "real-world" setting. Methods: Retrospective analysis of 60 pediatric patients with T1D who changed their insulin analogue to faster aspart. Anthropometric data, insulin doses, capillary and interstitial glucose recordings and average glycated hemoglobin before and after insulin analogue's switch were obtained. After all population analyses, patients were analyzed separately according to the type of treatment, multiple daily injections (MDI) and continuous subcutaneous insulin infusion (CSII), and according to age group. Results: Faster aspart significantly improved metabolic control, increasing time in range (TIR) (42 vs.54%, respectively; P = 0.007) and decreasing time above range (TAR) (52 vs.40%, respectively; P = 0.009), without an increased time in hypoglycemia (7% before and after faster aspart's introduction; P = 0.933). This was reassured in the adolescent years (n = 45), with an increase in TIR (37 vs. 47%, respectively; P = 0.034) and decrease in TAR (51 vs. 45%, respectively; P = 0.022). Patients on CSII (n = 47), also demonstrated an increase in TIR (38 vs. 50%, respectively; P = 0.010). The reduction of A1c was not statistically significant. Conclusion: Although the advantage of faster aspart had already been demonstrated in pediatric patients under MDI, "real-world" studies, including patients under CSII, are still lacking. This study highlights the important impact of faster aspart on metabolic control in children with T1D, particularly among adolescents under CSII.

Parechovirus Genotype 3 Outbreak Among Young Infants in Portugal.

INTRODUCTION: Human parechovirus type 3 has been recognized as a cause of pediatric infection, occasionally associated with serious illness, including sepsis and meningitis, particularly among young infants. The aim of this study is to report the first known human parechovirus type 3 outbreak in Portugal. MATERIAL AND METHODS: Descriptive study of an outbreak that occurred between the 8th June to the 12th August 2016. Laboratory diagnosis was made by reverse transcription - polymerase chain reaction in the cerebrospinal fluid and/or in stools. Genotyping was made by reverse transcription - polymerase chain reaction and sequencing in stool samples from infants and family members. RESULTS: Human parechovirus type 3 infection was detected in seven infants, of which six were male. Median age was 23 days (5 - 52). One had seizures, with a magnetic resonance imaging scan showing white matter diffusion restriction. The mean duration of admission was 5.6 days (3 - 11), with favourable outcome in all. In three cases there were symptomatic close family members. Human parechovirus type 3 was identified in the stools of three mothers. DISCUSSION: Even though human parechovirus type 3 infection has been well described in the presented age group, most Portuguese hospitals do not have this laboratory diagnosis. Our results are comparable to those obtained in other countries. Besides detection of the virus in the cerebrospinal fluid, there were no raised local or systemic inflammatory markers. CONCLUSION: This study reports the first known outbreak, in infants, of human parechovirus type 3 in Portugal. Although there is no specific treatment, this diagnosis can avoid unnecessary empirical antibiotic treatment and prolonged admissions.

Introdução: O parechovirus humano tipo 3 tem sido reconhecido como causa de infeção em idade pediátrica, ocasionalmente associado a doença grave, incluindo sépsis e meningite, particularmente em pequenos lactentes. Foi objectivo deste estudo descrever o primeiro surto conhecido de infeção por parechovirus humano tipo 3 em Portugal. Material e Métodos: Estudo descritivo de um surto ocorrido entre 8 de junho a 12 de agosto de 2016. O diagnóstico laboratorial foi realizado por transcriptase reversa - reação em cadeia da polimerase no líquido cefalorraquidiano e/ou nas fezes. A genotipagem foi efetuada no Instituto Nacional de Saúde Doutor Ricardo Jorge, por transcriptase reversa - reação em cadeia da polimerase e sequenciação, em amostras de fezes dos lactentes e seus familiares. Resultados: Foi detetada infeção por parechovirus humano tipo 3 em sete lactentes, seis dos quais do sexo masculino, mediana de idade de 23 dias (5 - 52). Uma lactente apresentou convulsões, com múltiplas lesões da substância branca na ressonância magnética nuclear. A duração média de internamento foi de 5,6 dias (3 - 11), com evolução favorável em todos. Em três casos havia familiares próximos sintomáticos. Em três mães foi identificado parechovirus humano tipo 3 nas fezes. Discussão: Embora a infeção por parechovirus humano tipo 3 esteja bem descrita neste grupo etário, a maior parte dos hospitais portugueses não dispõe deste diagnóstico laboratorial. Os resultados obtidos foram semelhantes aos verificados noutros países. Apesar da deteção do vírus no líquido cefalorraquidiano, destaca-se a ausência de resposta inflamatória local ou sistémica. Conclusão: Este estudo reporta o primeiro surto conhecido de infeção por parechovirus humano tipo 3 ocorrido em Portugal em pequenos lactentes. Apesar de não existir tratamento específico, este diagnóstico poderá evitar poderá evitar antibioterapia e internamentos prolongados.