Journal of Neuromuscular Diseases - Volume 10, issue 2

Authors: Sener, Seher | Batu, Ezgi Deniz | Sari, Seher | Kasap Cuceoglu, Muserref | Yildiz, Adalet Elcin | Talim, Beril | Aydingoz, Ustun | Ozen, Seza | Haliloglu, Goknur

Article Type: Case Report

Abstract: Background/Objective: Anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR) myopathy is rare in children. Here, we present a boy with relapsing refractory anti-HMGCR myopathy along with a systematic literature review. Case Report: 17-year-old boy with five years of muscle weakness, rash, high creatinine kinase (CK) levels, and muscle biopsy compatible with inflammatory myopathy was diagnosed with juvenile dermatomyositis. He was treated with corticosteroids, intravenous immunoglobulin (IVIG), and methotrexate. His muscle weakness improved with this treatment although never completely resolved. CK levels decreased from ∼15000 U/L to ∼3000 U/L. At the age of 15, muscle weakness relapsed after an upper respiratory tract infection; …pulse corticosteroid treatment was administered. The re-evaluated muscle biopsy showed a necrotizing pattern and the HMGCR antibody was positive confirming anti-HMGCR myopathy when he was 16. The diagnostic delay was 50 months. Disease activity was monitored by Medical Research Council score, MRI and functional tests. Despite corticosteroids, methotrexate, IVIG, cyclosporine A, and rituximab therapies, muscle weakness improved only slightly during the first three months and remained stable afterwards. Results of the Literature Search: We identified 16 articles describing 50 children (76% female) with anti-HMGCR myopathy by reviewing the English literature up to March 1st, 2022. Proximal muscle weakness was the most common clinical symptom (70.8%). Corticosteroids (84.8%), IVIG (58.7%), and methotrexate (56.5%) were preferred in most cases. Complete remission was achieved in nine patients (28.1%). Conclusion: Diagnosis and management of children with anti-HMGCR myopathy are challenging. Complete remission is achieved in only one third of these patients. Imaging biomarkers may aid treatment. Show more

Keywords: Anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase myopathy, children, necrotizing pattern, refractory

DOI: 10.3233/JND-221557

Citation: Journal of Neuromuscular Diseases, vol. 10, no. 2, pp. 279-291, 2023

Authors: Al Amrani, Fatema | Al-Thihli, Khalid | Narayanappa, Gayathri | Al-Maawali, Almundher

Article Type: Research Article

Abstract: Background: Muscular A-type lamin-interacting protein (MLIP) has a regulatory role in myoblast differentiation and organization of myonuclear positioning in skeletal muscle. It is ubiquitously expressed but abundantly in cardiac, skeletal, and smooth muscles. Recently, two studies confirmed the causation of biallelic pathogenic variants in the MLIP gene of a novel myopathy phenotype. Objective: Description of the phenotypic spectrum and features of MLIP-related myopathy. Methods: report a patient with biallelic variants in MLIP gene with the clinical features, and histomorphological findings of MLIP-related myopathy and provide a literature review of the previously reported 12 patients. …Results: MLIP-related myopathy is characterized by episodes of rhabdomyolysis, myalgia triggered by mild to moderate exercise, mild muscle weakness, and sometimes cardiac involvement characterized by cardiomyopathy and cardiac rhythm abnormalities. Conclusions: This report reviews and extends the clinical features of a novel myopathy caused by biallelic pathogenic variants in the MLIP gene. Show more

Keywords: MLIP, myopathy, rhabdomyolysis, hyperCKemia, cardiomyopathy

DOI: 10.3233/JND-221520

Citation: Journal of Neuromuscular Diseases, vol. 10, no. 2, pp. 293-299, 2023