18º Congresso Brasileiro de Neurologia Infantil

Dados do Trabalho



Apresentação do caso

An infant, male, 1 month and 20 days old, was admitted to the Intensive Care Unit after a tonic focal epileptic seizure associated with previous hypotonia, lack of gaze fixation, weak sucking and weight loss. During hospitalization, new focal seizures, recurrent hypoglycemia and respiratory distress were observed, in addition to a cardiorespiratory arrest. Magnetic resonance imaging of the brain showed supra and infratentorial leukoencephalopathy, with involvement of the brainstem, cerebellum, optic chiasm, optic tracts and optic radiation. Electroencephalogram showed diffuse disorganization of background activity, paroxysmal spikes and acute wave of multifocal projection. Amino acid chromatography revealed increased serum levels of valine, leucine and isoleucine, confirming the diagnosis of maple syrup urine disease. After starting a diet with restriction of these amino acids, the patient had no new epileptic seizures or hypoglycemia, but presented an initially perioral erythematous erosive lesion, progressing with perianal and limb involvement, 12 days after the diet was introduced. With a presumptive diagnosis of isoleucine deficiency dermatitis, supplementation with isoleucine was offered with subsequent regression of the lesions.


Maple syrup urine disease is a condition in which there is enzymatic blockage of the catabolism of branched-chain amino acids leucine, isoleucine and valine. Treatment consists of normalizing the levels of these amino acids, as they are neurotoxic when increased. The restrictive diet seeks this objective, but by reducing the concentration of these amino acids to subnormal levels, clinical manifestations due to the lack of these substances may occur. One of these clinical manifestations is the acrodermatitis enteropathica-like syndrome which, unlike acrodermatitis enteropathica, leads to the appearance of periorificial scaly erythematous plaques due to deficiency of essential amino acids, such as isoleucine, as observed in this case. Thus, aiming at regression of the lesions, the treatment is carried out with isoleucine supplementation.

Comentários finais

Despite the low incidence of maple syrup urine disease, it is important to know about possible undesirable effects of dietary restriction in children with this condition, as well as in other metabolic diseases. The rapid observation and management of these events can improve the quality of life and reduce the morbidity of these patients.

Referências (se houver)

Palavras Chave

Maple syrup urine disease; inborn errors of metabolism; acrodermatitis; diet therapy.

Fonte de Fomento (se houver)

Declaração de conflito de interesses de TODOS os autores

Não há conflito de interesses.


Erros inatos do metabolismo


Hugo Matos Bandeira, Stella Mandu Cicco, Ariany Cibelle Costa Rezende, Nathália Dantas de Freitas Rêgo, Bianca Carolina Serafim do Nascimento