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Título

RECURRENT RHABDOMYOLYSIS DUE TO LONG CHAIN HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY (LCHAD) - A CASE REPORT

Apresentação do caso

Case presentation: J.A.P.N., male, 7 years old, born at full-term, without gestational complications. He presented significant delay in motor development, started crawling at 8 months, but never acquired gait. In addition, he presented palpebral ptosis since birth. He evolved throughout his life with a pattern of distal atrophy in the upper and lower limbs, in addition to recurrent episodes of hospitalizations due to rhabdomyolysis (about 7 episodes). In addition, he also had drowsiness and worsening of ptosis during these events. On neurological examination, he presented bilateral palpebral ptosis, muscle strength grade IV in upper limbs and grade III in lower limbs, besides the presence of distal atrophy and retractions in hands and feet. He was able to crawl, but did not ambulate. In order to elucidate the diagnosis, a genetic panel (NGS) for neuromuscular diseases was performed, which revealed a homozygous mutation in the HADHA (Hydroxyacyl-CoA Dehydrogenase Trifunctional Multienzyme Complex Subunit Alpha) gene, position chr2:26,232,203, confirming the diagnosis of Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD).

Discussão

Discussion: Long-chain hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is an autosomal recessive inherited condition caused by pathogenic variants of the trifunctional protein (TFP), encoded by the HADHA gene, which has 3 subunits: long-chain hydroxyacyl-CoA dehydrogenase, long-chain enoyl-CoA hydratase, and long-chain thiolase. This deficiency in the metabolization of long-chain fatty acids results in insufficient energy production as well as an accumulation of fatty acid intermediates. The clinical course of the disease usually begins in the first months of life with growth deficits, hypotonia, peripheral neuropathy, hepatomegaly, cardiomyopathy, and retinopathy. In addition, symptoms may be intensified by prolonged fasting or infections, presenting with idiopathic episodes of cramping and rhabdomyolysis.

Comentários finais

Final comments: Despite being a rare disease, LCHAD should be considered as a differential diagnosis in patients presenting with a compatible clinical picture, because there is treatment that modifies the course of the disease, which can be performed starting with diet. In addition, it is important that the patient is properly followed up with the specialties, neurologist, gastroenterologist and cardiologist, for assistance in the progression of the disease.

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Área

Doenças neuromusculares