Dados do Trabalho

Título

KRABBE DISEASE: A CASE REPORT

Apresentação do caso

Patient T.A., 4 months old, male, natural from Rio Branco, Acre, seeks emergency in unit, on the state of Acre, with irritability, intense and persistent crying. Admitted with tachycardia, satO2 92%, administered amikacin and symptomatic for 10 days with improvement in respiratory condition. Ten days after discharge, the patient had sudden fever, generalized hypotonia, seizures and regression of neuromotor development after the 3rd month, which became more evident over the next months, raising the hypothesis of genetic syndrome and epilepsy to be clarified in the 5th month, it was asked for a magnetic resonance imaging of the skull, complete exome and medical discharge using clonazepam and phenobarbital to control the seizures. The resonance showed cerebral atrophy, diagnosing him with Krabbe's disease, at 7 months. In the 8th month, a gastrostomy was performed due to dysphagia, and tracheostomy was indicated, but the mother preferred not to undergo the surgery at that moment, with hospital discharge after 1 month after the procedure using phenobarbital, oxcarbamazepine and clobazam.After 10 months, the patient evolved with desaturation, tachypnea and excessive secretion- the tracheostomy was performed and the patient was discharged after 20 days with medications already used. The patient continues to be followed up by a multidisciplinary team

Discussão

Krabbe's disease, or globoid cell leukodystrophy, is a genetic syndrome with a rare autosomal recessive pattern, affecting 1:100,000 live births. It presents clinical manifestations before 6 months of life, such as delay in motor development, seizures, dysphagia, blindness and deafness, culminating in irritability and intense crying. There aren’t many cases in Amazon region, and the diagnosis,due the lack of infrastructure, are delayed, wich influences in the patient outcome. There is no specific pharmacological treatment,thus the aim is to provide a better quality of life and survival time, treating the symptoms. In this case with anticonvulsants and gastrostomy and fundoplication surgeries for better nutritional therapy and tracheostomy for better respiratory comfort.

Comentários finais

Krabbe's disease is a genetic syndrome with an autosomal recessive pattern, thus counseling and genetic mapping of the family of these patients are important.

Referências (se houver)

LIMA, K. M.; MAIA, D. M. S.; MENEZES, J. C. de O.; SILVA, J. B. F. e; SILVA, J. G. da. Abordagem multiprofissional na Doença de Krabbe: relato de caso. Revista Neurociências, [S. l.], v. 29, p. 1–9, 2021. DOI: 10.34024/rnc.2021.v29.11014. Disponível em: https://periodicos.unifesp.br/index.php/neurociencias/article/view/11014. Acesso em: 25 abr. 2023.

SANO, T. S.; Krabbe disease: the importance of early diagnosis to prognosis. Hospital Albert Einstein. São Paulo. 2012.

Palavras Chave

Krabbe disease, genetic syndrome, case report

Fonte de Fomento (se houver)

Declaração de conflito de interesses de TODOS os autores

All authors declare that they have no conflict of interest of any kind

Área

Erros inatos do metabolismo