Lipid Storage Disorders of the Central Nervous System

Leistyna, Joseph A.

doi:10.1001/archpedi.1962.02080030680014

Cited by 2 publications

(1 citation statement)

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“…The main clinical manifestations are volatility or progressive proximal limb muscle weakness and exercise intolerance, which may be associated with multiple systemic involvement of the heart muscle, liver, kidney, peripheral nerves, skin, and eyes, causing numerous systems to be compromised [10]. Infants or severely ill patients may progress to central nervous system involvement, respiratory failure, and recurrent non-ketotic or low-ketose hypoglycemia, metabolic acidosis, and other metabolic disorders [14][15][16]. Our clinical experience has shown that some patients with LSM have first-episode symptoms of hyperuricemia and have been treated at the departments of immunology and rheumatology.…”

Section: Introductionmentioning

confidence: 99%

Adolescent Hyperuricemia with Lipid Storage Myopathy: A Clinical Study

Han

Song

et al. 2019

Med Sci Monit

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Background: In this study, we investigated the clinical and pathological features of patients with lipid storage myopathy (LSM) complicated with hyperuricemia, to improve clinicians' understanding of metabolic multi-muscular disorder with metabolic disorders, and to reduce the risk of missed diagnosis of LSM. Material/Methods: From January 2005 to December 2017, 8 patients underwent muscle biopsy and diagnosed by muscle pathology and genetic testing in our hospital. All 8 patients were in compliance with LSM diagnosis. We collected data on the patient's clinical performance, adjuvant examination, treatment, and outcomes to provide a comprehensive report and description of LSM patients with hyperuricemia. Results: All patients were diagnosed as having ETFDH gene mutations. The main clinical manifestations of patients were chronic limb and trunk weakness, limb numbness, and muscle pain. The serum creatine kinase (CK) values in all patients were higher than normal values. Electromyography showed 3 cases of simple myogenic damage and 3 cases of neurogenic injury. Hematuria metabolic screening showed that 2 patients had elevated glutaric aciduria, and 1 patient had elevated fatty acyl carnitine in the blood. All patients were given riboflavin treatment, and the clinical symptoms were significantly improved, and 3 patients returned to normal uric acid levels after treatment. Pathological staining showed an abnormal deposition of lipid droplets in muscle fibers. Conclusions: If an adolescent hyperuricemia patient has abnormal limb weakness, exercise intolerance, and elevated serum CK values, clinicians need to be highly alert to the possibility of LSM. Early diagnosis and treatment of LSM should improve the clinical symptoms and quality of life and reduce complications.

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Section: Introductionmentioning

confidence: 99%