Charcot-Marie-Tooth disease in a patient with long-chain 3-hydroxyacyl-coa dehydrogenase (LCHAD) deficiency

Case presentation: A 9-year-old male patient, with brown skin color, natural childbirth at term without further pregnancy information, started follow-up at the center on June 8, 2022, with a history of motor delay. This was recognized due to a lack of gait, by his parents at 12 months old. The parents were unable to recognise other motor milestones. He developed distal atrophy of the upper and lower limbs, muscle weakness, retraction of the fingers and toes, and bilateral cavus feets, as well as eyelid ptosis, which worsened in multiple episodes of rhabdomyolysis secondary to infections, requiring hospitalization. He had previously been observed at another center where a clinical diagnosis of Charcot-Marie-Tooth disease was made at 22 months of age. His father was observed to have cavus foot and calf atrophy, as well as electroneuromyography with evidence of axial sensory-motor polyneuropathy. Physical examination revealed distal atrophy and retraction of the calcaneus and toes, scoliosis, level 4 limbs strength, global level 1 osteotendinous reflexes, no gait but able to stand. Sensitivity was preserved. At that time, he was using 5 milligrams of baclofen twice a day and was not followed by a multidisciplinary team. The main suspect at the time was long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and a genetic panel was conducted, confirming the diagnosis. He was followed at the center and began nutritional support and physical therapy. The neurological status remained unchanged, with no ophthalmic or cardiac changes to date, but with new episodes of rhabdomyolysis associated with the occurrence of infections. Discussion: Given the clinical presentation, the progressive, muscle weakness with atrophy and limbs dysmorphism associated with a compatible family history stands out. These factors favor the diagnosis of Charcot-Marie-Tooth disease, considering the clinical features and the frequency of the hereditary nature of the neuropathy. In view of rhabdomyolysis secondary to infection and associated muscular neuropathy, especially in the lower limbs, there is support for a LCHAD case, considering the onset in early childhood. Final comments: The patient presents two rare diseases in which the overlapping of the pathologies may have significantly worsened the clinical manifestations, especially those motor in nature.