Paroxysmal ocular movements - an early sign in Glut1 deficiency Syndrome.

The authors describe a 3-year-old female, diagnosed with GLUT1 deficiency Syndrome, with a previously unreported mutation in exon 7 of the SLC2A1 gene: c.968_972 + 3del P. (Val323Alafs*53), characterized by a classic phenotypic of acquired microcephaly, developmental delay, ataxia, spasticity, and epilepsy. Ketogenic diet was started at the age of 30 months with epilepsy improvement. She presented paroxysmal ocular movements in the first 12 months of life, recently defined as "aberrant gaze saccades", that are present in the early phase of visual system development, being one of the first disease signs, but easily disregarded. Recognizing these particular ocular movements would allow an early diagnosis, followed by ketogenic diet implementation, improving significantly the prognosis and the neurological development of those children.

Readmissions to a Pediatric Ward: An Eleven-Year Experience in a Portuguese Hospital.

INTRODUCTION: Pediatric readmissions have received increased attention in the past few years. Distinguishing between planned and unplanned readmissions and between preventable and unpreventable ones constitutes an important target to better understand this thematic. The aim of this study was to analyze the readmission rate and characterize the population readmitted within a 30-day period after discharge in the pediatric ward of a level II hospital. MATERIAL AND METHODS: Observational retrospective single center study of the pediatric patients who were discharged from a level II hospital, between 2009 and 2019, and had at least one readmission within 30 days after discharge. Clinical and demographic data were obtained from the analysis of the patient's medical records. We considered as potentially preventable all the unplanned readmissions that were related with the index admission. RESULTS: From the 6879 admissions during the study period, 4.8% resulted in readmissions within the next 30 days. Excluding the planned readmissions, the seven, 15 and 30-day readmission rates were respectively 1.7%, 2.7% and 3.9%. Most of the unplanned readmissions (77%) were considered as potentially preventable. Patients reevaluated in the Pediatric Day Hospital after discharge had shorter intervals to readmission. Readmissions due to decompensation of chronic disease were more likely related with the index admission. Patients with chronic disease, as well as patients with neurological impairment were more likely to have multiple readmissions. CONCLUSION: We found a low overall readmission rate, but a higher percentage of potentially preventable readmissions, when compared with the available literature.

Introdução: Nos últimos anos, os reinternamentos pediátricos têm sido alvo de atenção crescente. Distinguir reinternamentos programados de não programados, e os que podem ou não ser evitados constituem aspetos importantes para a melhor compreensão desta temática. O objetivo deste estudo foi analisar a taxa de reinternamentos e caracterizar a população reinternada até 30 dias após a alta numa enfermaria de Pediatria de um hospital de nível II. Material e Métodos: Estudo observacional retrospetivo dos doentes com alta da enfermaria de Pediatria de um hospital de nível II, entre 2009 e 2019, e que tiveram pelo menos um reinternamento até 30 dias após a alta. Dados clínicos e demográficos foram obtidos a partir da análise dos processos clínicos. Considerámos potencialmente evitáveis os reinternamentos não programados relacionadas com o internamento índex. Resultados: Das 6879 admissões durante o período de estudo, 4,8% resultaram em reinternamento até 30 dias. Excluindo os reinternamentos programados, a taxa de reinternamento até sete, 15 e 30 dias foi, respetivamente, 1,7%, 2,7% e 3,9%. A maioria dos reinternamentos não programadas (77%) foi considerada potencialmente evitável. Os doentes reavaliados em Hospital de Dia após a alta apresentaram um menor intervalo até ao reinternamento. Os reinternamentos devido à descompensação de doença crónica apresentaram maior probabilidade de estarem relacionados com o internamento índex. Doentes com doença crónica e com compromisso neurológico apresentaram maior probabilidade de terem múltiplos reinternamentos. Conclusão: Em comparação com a literatura disponível, foi identificada uma baixa taxa global de reinternamentos, mas uma percentagem superior de reinternamentos potencialmente evitáveis.

Subcutaneous fat necrosis of the newborn - An atypical case with typical complications.

Subcutaneous fat necrosis of the newborn should be considered in newborns with suggestive skin lesions, even in the absence of perinatal distress. SCFN may cause long-standing complications, like hypertriglyceridemia or hypercalcemia. Hypercalcemia can be refractory to therapy and lead to poor weight gain and nephrocalcinosis, which should be closely monitored.

[The Experience of a Protocol for the Management of Pediatric Minor Head Injury: A Three Years Longitudinal Study]. / A Experiência duma Norma de Atuação no Traumatismo Crânio-Encefálico Ligeiro em Idade Pediátrica: Estudo Longitudinal de Três Anos.

INTRODUCTION: Head injury is common in children, with mostly being minor and not resulting in intracranial injury. Computerized tomography head scan is the preferred exam, but implies exposure to radiation; the indications for computerized tomography head scan in minor injuries are not consensual. An expectant approach is a good option in most cases. The aim was to compare the patients hospitalized and subjected to computerized tomography head scan with patients hospitalized but not subjected to computerized tomography head scan in order to assess the safety of our institution's practice protocol. MATERIAL AND METHODS: Analytical longitudinal retrospective study, during three years, including patients younger than 15 years of age with minor head injury, admitted for in hospital surveillance through a paediatric emergency room. We defined two study groups: group A (hospitalized with computerized tomography head scan) and group B (hospitalized without computerized tomography head scan). RESULTS: Study sample consisting of 206 patients: 81 (39%) group A and 125 (61%) group B. Symptoms, including vomiting, were more frequent in group B (91% and 61% vs 75% and 35%, p < 0.05); large scalp hematoma and palpable fracture in group A (11% and 12% vs 0%, p < 0.05). We performed computerized tomography head scan in 39% of the study patients (children with red flags in the physical examination or unfavourable course during hospitalization); 43% had traumatic brain injury (29 patients had fracture, 18 patients had intracranial injury). Three patients underwent neurosurgery. We did not register deaths, readmissions or neurologic sequelae. DISCUSSION: Significant intracranial injury was infrequent. The hospitalization and surveillance of children and adolescents with symptomatic minor head injury, without red flags in the physical examination, did not seem to result in additional risks. CONCLUSION: The careful selection of patients for computerized tomography head scan enabled a decrease in the number of these exams and the exposure to ionizing radiation.

Introdução: Os traumatismos crânio-encefálicos são frequentes em Pediatria, habitualmente ligeiros e sem lesões intracranianas. A tomografia computorizada crânio-encefálica é o exame de eleição, implicando radiação ionizante, não existindo consenso nas indicações nos traumatismos crânio-encefálicos ligeiros. Uma atitude expectante é uma opção adequada na maioria dos casos. Os autores pretenderam comparar os doentes internados e submetidos a tomografia computorizada crânio-encefálica com os doentes internados sem tomografia computorizada crânio-encefálica, inferindo a segurança da norma de atuação em vigor na nossa instituição. Material e Métodos: Estudo analítico longitudinal retrospetivo, durante três anos, de doentes com menos de 15 anos admitidos na Urgência Pediátrica e internados por traumatismos crânio-encefálicos ligeiros. Amostra organizada num grupo A (internados com tomografia computorizada crânio-encefálica) e num grupo B (internados sem tomografia computorizada crânio-encefálica). Resultados: Amostra de estudo constituída por 206 doentes: 81 (39%) grupo A e 125 (61%) grupo B. Sintomas, nomeadamente vómitos, foram mais frequentes no grupo B (91% e 61% vs 75% e 35%, p < 0,05); hematoma epicraniano volumoso e afundamento ósseo no grupo A (11% e 12% vs 0%, p < 0,05). Realizou-se tomografia computorizada crânio-encefálica em 39% dos doentes estudados (crianças com sinais de alarme à observação ou evolução não favorável durante o internamento); 43% tinham alterações (29 doentes apresentavam fratura, 18 doentes apresentavam lesões intracranianas). Três doentes foram submetidos a neurocirurgia. Não registámos óbitos, reinternamentos ou sequelas neurológicas. Discussão: As lesões intracranianas clinicamente significativas foram pouco frequentes. A atitude preconizada de vigilância hospitalar das crianças e adolescentes com traumatismos crânio-encefálicos ligeiros sintomáticos, sem alterações significativas ao exame objetivo, não pareceu ter implicado riscos acrescidos. Conclusão: A utilização criteriosa da tomografia computorizada crânio-encefálica permitiu reduzir o número de exames e a exposição a radiação ionizante.