*Correspondence: brubeyruth@hotmail.com.
Abstract
Case Presentation: 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.
Discussion: 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, which 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.
Final Comments: 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.
