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Hipotonia neonatal : a propósito de um caso clínico
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A síndrome do bebé hipotónico refere-se a uma criança com hipotonia generalizada presente ao nascimento ou na fase de lactente. Esta constitui um desafio clínico e requer uma abordagem multidisciplinar para se definir um diagnóstico etiológico precoce, instituir o tratamento dirigido, quando possível, estabelecer o prognóstico e oferecer um aconselhamento genético aos familiares.
A hipotonia neonatal é um sinal inespecífico frequente nesta faixa etária, muitas vezes associado a doença grave. No entanto, o reconhecimento atempado da sua etiologia pode alterar positivamente o prognóstico, pelo que se destaca a importância da sua avaliação detalhada. Devem ser consideradas causas de hipotonia central e periférica, entre as quais se incluem disfunções do sistema nervoso central e do sistema nervoso periférico, infecções, alterações genéticas, metabólicas e endócrinas.
Apresenta-se o caso clínico de um recém-nascido do sexo feminino, admitido ao primeiro dia de vida, com uma idade gestacional de 30 semanas e 2 dias, com história materna de taquicardia supra-ventricular durante a gravidez, hidrâmnios grave e redução dos movimentos fetais. Ao nascimento, por ausência de movimentos respiratórios eficazes, houve necessidade de ventilação mecânica. Ao longo do internamento, destaca-se a dependência ventilatória e suas complicações, os desafios iniciais na nutrição e estado neurológico preocupante, com hipotonia generalizada mantida, movimentos pobres, hiporreflexia e sucção fraca.
A investigação etiológica foi complexa, mas houve uma forte suspeita clínica de distrofia miotónica congénita, posteriormente confirmada pela avaliação genética.
A propósito deste caso clínico, foi realizada uma revisão narrativa da literatura sobre hipotonia neonatal com os seguintes objetivos: [1] Rever as suas principais causas; [2] Rever as orientações diagnósticas para um recém-nascido hipotónico; [3] Discutir as hipóteses diagnósticas do caso clínico apresentado.
The floppy baby syndrome refers to a child with generalized hypotonia, present at birth or in early infancy. This constitutes a clinical challenge and requires a multidisciplinary approach to define an early etiological diagnosis, intitute targeted treatmente, when possible, establish the prognosis and offer genetic counseling to family members. Neonatal hypotonia is a frequent nonspecific sign in this age group, often associated with serious illness. However, early recognition of its etiology can positively alter the prognosis, which highlights the importance of its detailed evaluation. Causes of central and peripheral hypotonia should be considered, which include dysfunctions of the central nervous system, infections, genetic, metabolic and endocrine changes. We present a clinical case of a female newborn, admitted at the first day of life, with 30 weeks and 2 days of gestacional age, with maternal history of supraventricular tachycardia during pregnancy, severe hydramnios and reduced fetal movements. At birth, due to the lack of effective respiratory movements, mechanical ventilation was necessary. Throughout hospitalization, ventilatory dependence and its complications, initial challenges in nutrition and worrying neurological status, with maintained generalized hypotonia, poor movements, hyporeflexia and weak suction, stood out. The etiological investigation was complex, but there was a strong clinical suspicion of congenital myotonic dystrophy, later confirmed by genetic analysis. Regarding this clinical case, a narrative review on neonatal hypotonia was performed, with the following objectives: [1] Review its main causes; [2] Review diagnostic guidelines for a hypotonic newborn; [3] Discuss the diagnostic hypotheses of the presented clinical case.
The floppy baby syndrome refers to a child with generalized hypotonia, present at birth or in early infancy. This constitutes a clinical challenge and requires a multidisciplinary approach to define an early etiological diagnosis, intitute targeted treatmente, when possible, establish the prognosis and offer genetic counseling to family members. Neonatal hypotonia is a frequent nonspecific sign in this age group, often associated with serious illness. However, early recognition of its etiology can positively alter the prognosis, which highlights the importance of its detailed evaluation. Causes of central and peripheral hypotonia should be considered, which include dysfunctions of the central nervous system, infections, genetic, metabolic and endocrine changes. We present a clinical case of a female newborn, admitted at the first day of life, with 30 weeks and 2 days of gestacional age, with maternal history of supraventricular tachycardia during pregnancy, severe hydramnios and reduced fetal movements. At birth, due to the lack of effective respiratory movements, mechanical ventilation was necessary. Throughout hospitalization, ventilatory dependence and its complications, initial challenges in nutrition and worrying neurological status, with maintained generalized hypotonia, poor movements, hyporeflexia and weak suction, stood out. The etiological investigation was complex, but there was a strong clinical suspicion of congenital myotonic dystrophy, later confirmed by genetic analysis. Regarding this clinical case, a narrative review on neonatal hypotonia was performed, with the following objectives: [1] Review its main causes; [2] Review diagnostic guidelines for a hypotonic newborn; [3] Discuss the diagnostic hypotheses of the presented clinical case.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2024
Palavras-chave
Hipotonia neonatal Síndrome do bebé hipotónico Distrofia miotónica tipo 1 Pediatria