ABSTRACT
BACKGROUND: TANGO2 deficiency disorder is a rare genetic disease caused by biallelic defects in TANGO2 gene. METHODS: We report the clinical phenotype of two children with TANGO2 deficiency disorder. RESULTS: Patient 1 is a female child presenting with developmental delay and microcephaly during the second year of life, who evolved with severe cognitive impairment, facial dysmorphisms, spastic paraparesis, and atonic seizures. At age 13 years, she was hospitalized due to an episode of rhabdomyolysis complicated with cardiac arrhythmia and hypothyroidism. Patient 2 is a female child with dysmorphic facial features, cleft palate, and developmental delay who was diagnosed with DiGeorge syndrome. At age three years, she presented with an acute episode of severe rhabdomyolysis in the context of human herpesvirus 6 infection. After the resolution of this acute episode, she maintained recurrent muscle weakness with axial hypotonia and progressive spasticity of the lower extremities. In both patients, diagnosis of TANGO2 deficiency disorder was only confirmed after an acute metabolic crisis. CONCLUSIONS: A high index of suspicion for TANGO2 deficiency disorder is needed in patients with developmental delay or other neurological symptoms and episodic rhabdomyolysis.
Subject(s)
DiGeorge Syndrome , Microcephaly , Rhabdomyolysis , Child , Humans , Female , Adolescent , Child, Preschool , Microcephaly/complications , Microcephaly/genetics , Seizures , Phenotype , Rhabdomyolysis/etiology , Rhabdomyolysis/geneticsSubject(s)
Anemia, Aplastic/diagnosis , Ataxia/diagnosis , Bone Marrow Diseases/diagnosis , Brain Neoplasms/diagnosis , Calcinosis/diagnosis , Central Nervous System Cysts/diagnosis , Dyskeratosis Congenita/diagnosis , Hemoglobinuria, Paroxysmal/diagnosis , Leukoencephalopathies/diagnosis , Muscle Spasticity/diagnosis , Retinal Diseases/diagnosis , Seizures/diagnosis , Anemia, Aplastic/congenital , Ataxia/complications , Bone Marrow Diseases/congenital , Bone Marrow Failure Disorders , Brain Neoplasms/complications , Calcinosis/complications , Central Nervous System Cysts/complications , Child , Diagnosis, Differential , Hemoglobinuria, Paroxysmal/congenital , Humans , Leukoencephalopathies/complications , Male , Muscle Spasticity/complications , Retinal Diseases/complications , Retinal Diseases/congenital , Seizures/complicationsABSTRACT
INTRODUCTION: Children who visit emergency departments and leave without being seen represent a multifactorial problem. We aimed to compare the sociodemographic characteristics of children who left and of those who did not leave, as well as to evaluate parental reasoning, subsequent use of medical care and patient outcome. MATERIAL AND METHODS: This was a prospective case-control study of a random sample of children who left without being seen and their matched controls from an emergency department during a three-month period. We performed a phone questionnaire to obtain information concerning reasons for leaving, patient outcomes and general feedback. RESULTS: During the study period, 18 200 patients presented to the emergency department, of whom 92 (0.5%) left without being seen. Fifty-five (59.8%) completed the questionnaire and there were 82 controls. The most common reasons for leaving were 'excessive waiting time' (92.7%) and 'problem could wait' (21.8%). A significantly higher number of patients who left sought further medical care (78.2% vs 11%) but they did not experience higher levels of unfavourable outcomes. DISCUSSION: The waiting time seems to be the major factor that drives the decision to leave. The fact that parents felt safe in leaving and the low level of adverse outcomes highlights the low-acuity nature of the majority of patients who leave. CONCLUSION: Reducing the waiting times may be the logical strategic mean to decrease the rates of patients who leave without being seen. However, our data seems to indicate that the concerns surrounding clinical outcome after leaving may be partly unwarranted.
Introdução: O abandono de doentes do serviço de urgência pediátrico antes da observação médica constitui um problema multifatorial. Procurámos comparar características sociodemográficas de crianças que abandonaram a urgência e das que não abandonaram, assim como avaliar os motivos, recurso subsequente a cuidados de saúde e outcome clínico. Material e Métodos: Estudo caso-controlo prospetivo de amostra aleatória de crianças que abandonaram a urgência e de controlos pareados durante um período de três meses. Foi realizado um questionário telefónico para recolha de informação relacionada com os motivos para o abandono, outcomes clínicos e opiniões gerais. Resultados: Durante o período do estudo, 18 200 doentes recorreram ao Serviço de Urgência Pediátrica, dos quais 92 (0,5%) abandonaram. Um total de 55 casos (59,8%) e 82 controlos completaram o questionário. As razões mais comuns para o abandono foram 'tempo de espera excessivo' (92,7%) e 'problema podia esperar' (21,8%). Um número significativamente superior de doentes que abandonaram recorreu subsequentemente a cuidados de saúde (78,2% vs 11%), não tendo contudo apresentado uma incidência superior de outcomes adversos. Discussão: O tempo de espera parece ser o fator prioritário que motiva a decisão de abandonar a urgência. A segurança referida pelos pais aquando da decisão e a incidência reduzida de outcomes adversos parecem reforçar a noção de que se trata de doentes com casos clínicos de baixa gravidade. Conclusão: A redução do tempo de espera parece ser a medida estratégica lógica para diminuir as taxas de abandono. No entanto, a preocupação associada ao outcome clínico após o abandono poderá ser parcialmente injustificada.
