case_images: PMC4274829_01
case_images: Pedigree of family with mitochondriopathy. I-1: death by suicide at 61; I-2: death from haemorragic stroke at 48; II-1: Leigh syndrome, death by suicide at 16 A; II-2: Leigh syndrome, death at 34 A, from respiratory failure; II-3: 34 A, epilepsy, cognitive impairment, and polyneuropathy; II-4: 33 A, index case; II-5: 17 A, cognitive impairment, ataxia, and peripheral neuropathy; II-6: 13 A, neurodevelopmental delay.
case_images: CRINM2014-701761.001.jpg
case_images: PMC4274829_01_CRINM2014-701761.001.jpg
case_images: fig1
case_images: Fourth sibling of nonconsanguineous parents, with family history of mitochondrial encephalopathy (Figure 1), his mother with congenital deafness, died at age 48 due to an haemorrhagic stroke; two older brothers died at ages 16 and 34, with the diagnosis of Leigh syndrome; the patient's 34-year-old brother revealed cognitive impairment, polyneuropathy, and epilepsy; and two younger sisters revealed cognitive impairment, ataxia, peripheral neuropathy, and neurodevelopmental delay, respectively.
case_images: Histopathologic finding on muscle biopsy. (a) H&E: large group atrophy (atrophic muscle, an issue surrounded by other normal appearances of fascicles or scattered angular atrophic fibers). (b) ATPase reaction aspects of type-grouping, typical neurogenic muscular atrophy; muscular fascicle and the atrophic consisting of a single type of fiber; in this case type I and the other parts are nearly all composed of fibers of type II. (c) Oxidative reaction SDH aggregates subsarcolemmal hyperchromatic, crescent-shaped, which correspond to the accumulation of mitochondria.
case_images: CRINM2014-701761.002.jpg
case_images: PMC4274829_01_CRINM2014-701761.002.jpg
case_images: fig2
case_images: Trichrome stain. These features are suggestive of spinal muscular atrophy (SMA) with some mitochondrial alterations (Figures 2(a)-2(c)).
case_images: PMC4274829_02