Early onset neutral lipid storage disease with myopathy presenting as congenital hypotonia and hepatomegaly

Ávila-Smirnow, Daniela; Durán-Saavedra, Gloria; Ovalle-Besa, Pilar; Gejman-Enríquez, Roger

doi:10.1016/j.nmd.2020.11.007

Cited by 4 publications

(4 citation statements)

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“…131 frequent in NLSD-I. Age of symptom onset across NLSD is typically in the fourth decade; however, presentations with mild myopathy in infancy or childhood 133 or late presentations at advanced age may occur. 131,[134][135][136] Skeletal muscle weakness is commonly the first symptom in NLSD-M, and occurs in both NLSD-M and NLSD-I in a predominantly proximal and axial distribution with associated atrophy; however, predominantly distal involvement has been reported in a minority.…”

Section: Hereditary Myopathies With Jordans' Anomalymentioning

confidence: 99%

“…anomaly when tested for in the literature, 133 the argument can be made for inclusion of a peripheral blood smear in the work-up of patients with myopathy, particularly those with cardiomyopathy.…”

Section: Hereditary Myopathies With Jordans' Anomalymentioning

confidence: 99%

“…Jordans' anomaly and systemic lipid deposition are shared in both NLSD‐M and NLSD‐I; however, skeletal myopathy and cardiomyopathy are more frequent in NLSD‐M, ichthyosis is present only in NLSD‐I, and hepatic involvement is more frequent in NLSD‐I. Age of symptom onset across NLSD is typically in the fourth decade; however, presentations with mild myopathy in infancy or childhood 133 or late presentations at advanced age may occur 131,134‐136 . Skeletal muscle weakness is commonly the first symptom in NLSD‐M, and occurs in both NLSD‐M and NLSD‐I in a predominantly proximal and axial distribution with associated atrophy; however, predominantly distal involvement has been reported in a minority 136‐138 .…”

Section: Hereditary Myopathies With Leukocyte Abnormalitiesmentioning

confidence: 99%

“…In those without evidence of lipid deposition on biopsy, impaired beta‐oxidation of fatty acids is likely responsible for clinical weakness and exercise intolerance 140 . Given that NLSD may present with a nonspecific myopathic clinical phenotype across the age spectrum and nonspecific muscle biopsy findings, and given the ubiquitous presence of Jordans' anomaly when tested for in the literature, 133 the argument can be made for inclusion of a peripheral blood smear in the work‐up of patients with myopathy, particularly those with cardiomyopathy. There is no treatment for NLSD currently and mainstays of management include optimization of cardiac function and monitoring of hepatopathy.…”

Section: Hereditary Myopathies With Leukocyte Abnormalitiesmentioning

confidence: 99%

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Hereditary myopathies associated with hematological abnormalities

2022

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The diagnostic evaluation of a patient with suspected hereditary muscle disease can be challenging. Clinicians rely largely on clinical history and examination features, with additional serological, electrodiagnostic, radiologic, histopathologic, and genetic investigations assisting in definitive diagnosis. Hematological testing is inexpensive and widely available, but frequently overlooked in the hereditary myopathy evaluation. Hematological abnormalities are infrequently encountered in this setting; however, their presence provides a valuable clue, helps refine the differential diagnosis, tailors further investigation, and assists interpretation of variants of uncertain significance. A diverse spectrum of hematological abnormalities is associated with hereditary myopathies, including anemias, leukocyte abnormalities, and thrombocytopenia.Recurrent rhabdomyolysis in certain glycolytic enzymopathies co-occurs with hemolytic anemia, often chronic and mild in phosphofructokinase and phosphoglycerate kinase deficiencies, or acute and fever-associated in aldolase-A and triosephosphate isomerase deficiency. Sideroblastic anemia, commonly severe, accompanies congenital-to-childhood onset mitochondrial myopathies including Pearson marrowpancreas syndrome and mitochondrial myopathy, lactic acidosis, and sideroblastic anemia phenotypes. Congenital megaloblastic macrocytic anemia and mitochondrial dysfunction characterize SFXN4-related myopathy. Neutropenia, chronic or cyclical, with recurrent infections, infantile-to-childhood onset skeletal myopathy and cardiomyopathy are typical of Barth syndrome, while chronic neutropenia without infection occurs rarely in DNM2-centronuclear myopathy. Peripheral eosinophilia may accompany eosinophilic inflammation in recessive calpainopathy. Lipid accumulation in leukocytes on peripheral blood smear (Jordans' anomaly) is pathognomonic for neutral lipid storage diseases. Mild thrombocytopenia occurs in autosomal dominant, childhood-onset STIM1 tubular aggregate myopathy, STIM1 and ORAI1 deficiency syndromes, and GNE myopathy. Herein, we review these hereditary myopathies in which hematological features play a prominent role.

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