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Fig. 1 | Egyptian Journal of Medical Human Genetics

Fig. 1

From: Spectrum of clinical manifestation of methylmalonic acidemia and homocystinuria in a family of six siblings: novel combination of transcobalamin receptor defect (CD320) and cblC deficiency (MMACHC)

Fig. 1

Magnetic resonance imaging and magnetic resonance spectroscopy of sibling 1. a Sibling 1: 12 year female. Axial FLAIR and T2W images. Bilateral symmetrical white matter hyperintensities in peri-ventricular and peritrigonal white matter. b Sibling 2. 06 year female: Axial T2W image—bilateral increased white matter intensities in centrum semi-ovale and peritrigonal white matter. Ventricular and extra-ventricular CSF spaces are prominent. c Sibling 5: 2.5 years male—axial T2W images: bilateral symmetrical increased white matter intensities with mild hydrocephalus. MRS multi-voxel technique. Increased Choline peak with abnormal Choline creatine ratio favors demyelinating disease

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