par KADHIM, Hazim;EL-HOWAYEK, Eliane;COPPENS, Sandra;DUFF, Jennifer;TOPF, Ana;KALEETA, Jean-Paul;SIMONI, Paolo;Boitsios, Grammatina
;REMICHE, Gauthier;STRAUB, Volker;VILAIN, Catheline;DECONINCK, Nicolas
Référence Neuromuscular disorders
Publication Publié, 2023-03-01
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Référence Neuromuscular disorders
Publication Publié, 2023-03-01
Article révisé par les pairs
Résumé : | HADDTS (Hypotonia, Ataxia, Developmental-Delay and Tooth-enamel defects) is a newly emerging syndrome caused by CTBP1 mutations. Only five reports (13 cases) are available; three contained muscle-biopsy results but none presented illustrated histomyopathology. We report a patient in whom whole-exome sequencing revealed a heterozygous de novo CTBP1 missense mutation (c.1024 C>T; p.(Arg342Trp)). Progressive muscular weakness and myopathic electromyography suggested a myopathological substrate; muscle-biopsy revealed dystrophic features with endomysial-fibrosis, fiber-size variability, necrotic/degenerative vacuolar myopathy, sarcoplasmic/myofibrillar- and striation-alterations, and enzyme histochemical and structural mitochondrial alterations/defects including vacuolar mitochondriopathy. Our report expands the number of cases in this extremely rare condition and provides illustrated myopathology, muscle-MRI, and electron-microscopy. These are crucial for elucidating the nature and extent of the underlying myopathological-correlates and to characterize the myopatholgical phenotype spectrum in this genetic neurodevelopmental condition. |