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Myotonia and MCADD: A Diagnostic Journey from Ocular Symptoms to Metabolic Crises
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P Poormehr    , A Behzadi , H Saneifard , F Ahmadabadi |
| Endocrinology Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran, , H.Saneifard@sbmu.ac.ir |
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Abstract: (237 Views) |
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) is an autosomal recessive metabolic disorder that affects mitochondrial fatty acid oxidation. This report concerns a 7-year-old girl who initially presented with Myotonia (precisely, an inability to open her eyes after closing them). Electromyography, nerve conduction velocity, and genetic testing confirmed acetazolamide-responsive Myotonia and a mutation in the ACADM gene indicative of MCAD. However, due to the absence of MCAD-related symptoms, treatment for this disorder was not initiated, and the patient was managed with carbamazepine and acetazolamide. She was later admitted to Mofid Children's Hospital with recurrent seizures, anorexia, vomiting, abdominal pain, and hypoglycemia following pneumonia. Metabolic screening and genetic testing via whole-exome sequencing and Sanger sequencing confirmed MCAD. Treatment with L-carnitine and corn starch, in addition to acetazolamide and carbamazepine, was started. This case highlights the importance of identifying metabolic disorders like MCAD in children with hypoglycemia, acidosis, neurological symptoms, and abdominal pain. Metabolic disorders caused by enzyme deficiencies require early emergency intervention to prevent irreversible damage. Careful monitoring and timely management are essential to prevent severe metabolic crises in such cases. |
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| Keywords: Medium-chain acyl-CoA dehydrogenase deficiency, Myotonia, hypoglycemia, ACADM gene, Metabolic diseases |
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Full-Text [PDF 751 kb]
(235 Downloads)
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Type of Study: Case report |
Subject:
Endocrinology
Received: 2024/09/17 | Accepted: 2024/09/29 | Published: 2024/02/29
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