PMC7275236_01
Pedigree of the index patient showing a strong family history of diabetes mellitus and hypertension. DM, diabetes mellitus; HTN, hypertension; IHD, ischaemic heart disease; CKD, chronic kidney disease.
CRIM2020-7904190.001.jpg
PMC7275236_01_CRIM2020-7904190.001.jpg
fig1
There is a strong family history of diabetes mellitus and hypertension (Figure 1).
Gas chromatography-mass spectrometry (GC-MS) total ion chromatogram of urine organic acids when the patient was asymptomatic. Letters indicate the following metabolites: (a) lactate; (b) glycolate; (c) 3-hydroxyisobutyrate; (d) 3-hydroxyisovalerate; (e) 2-ethylhydracrylate; (f) ethylmalonate; (g) unknown; (h) internal standard; (i) 4-hydroxycyclohexanecarboxylate; (j) 4-hydroxylphenylacetate; (k) unknown.
CRIM2020-7904190.002.jpg
PMC7275236_01_CRIM2020-7904190.002.jpg
fig2
Urine organic acid profile was normal (Figure 2).
(a) H&E sections of frozen muscle showing skeletal muscle fibers with occasional myofiber necrosis and disruption of sarcolemma by inflammatory cell infiltrates (200x magnification). (b) Sudan black stains of the muscle biopsy showing occasional subsarcolemmal aggregates of lipid droplets (200x magnification).
CRIM2020-7904190.003.jpg
PMC7275236_01_CRIM2020-7904190.003.jpg
fig3
Focal fiber atrophy was identified (Figure 3(a)). Sudan black stain revealed occasional subsarcolemmal aggregates of lipid droplets in a few fibers (Figure 3(b)).