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Case Reports
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3 M 2 Cataract NK No Cataract No
(p.Arg816*) and c.2575T>C (p.Phe859Leu)
Lee et al., 2019 1
F 1 Leigh
syndrome
18 m Development
regression
11 m DD, hypotonia
No NK
No NK
No
T2 hyperintensity No
13 y
Walks with assistance; no speech
c.2446C>T
(p.Arg816*) and c.2575T>C
(p.Phe859Leu)
Compound
No NK No NK Compound heterozygous
involving both the caudate nucleus and
basal ganglia with swelling and a lactate peak
in the basal ganglia lesion (42m)
No T2 hyperintensity NA in the periaqueductal
heterozygous c.1195A> G (p.Met399Val) and c.2052delT (p.Gln685Lysfs*15)
2 F 2 Leigh syndrome
3 M 3 Leigh syndrome
4 M 4 Leigh syndrome
5 M 5 Leigh syndrome
16 m
(deceased) heterozygous
Compound NK
area and midline of the midbrain, together with diffuse brain atrophy
c.550G> A (p.Ala184Thr) and c.1967T>C (p.Phe656Ser)
11 m
DD Nystagmus, cataract
NK
Short stature
No
No
the putamen and caudate nucleus,
diffuse cerebral atrophy, and loss
T2 hyperintensity
in both the basal ganglia (putamen) and a lactate peak in the putamen (37 m)
Bilateral symmetric T1- weighted low and T2- hyperintensity in the putamen and delayed myelination (22 m)
Bilateral
symmetric T2
hyperintensity and
atrophicchangesinboth
No
No
NK
No
No
No
No
8 y Walks alone; No speech
Compound heterozygous c.314_318del (p.Val105Aspfs*7) and c.2450G>A (p.Arg817His) Compound
Increased serum L
Increased serumL
Increased serum L
Increased serum and
9 m
5m
Birth
DD, Cataract Microcephaly,
3 y
Situpandstand heterozygous
Seizures (spasms)
with assistance, no speech
5 y Nearly bedridden;
c.971_972del (p.Ser324*) and c.2450G> A (p.Arg817His) Compound heterozygous c.314_318del
Cataract Hypopara- thyroidism
DD, Cataract Hypopara-No
DD, Microcephaly,
No seizures Short stature
nobabbling (p.Val105Aspfs*7) and c.2450G>A (p.Arg817His)
This article 1
M 1 Leigh syndrome,
anemia
of WM volume
Bilateralbasal ganglia hyperintensity
on T2-weighted images
Bilateral
basal ganglia hyperintensity on T2-weighted images (1 m)
16 m (deceased)
Compound heterozygous
1222
2 M
3 M
2 Anemia, cardiomyopathy
3 Anemia, Birth cardiomyopathy
CSF L
Increased serum L
Intermittently increased
4F 3
DD, right mild hemiplegia
Birth
DD, Seizures (spasms),
No
scoliosis
Volume loss involvingthecaudate nuclei, globus pallidi andputamina.T2flair hyperintensities involving the basal ganglia
Birth
2 m (deceased)
seizures (spasms)
DD No
DD, Cataract Anemia, (4,5m)
thyroidism
No No
c.891G>A (p.Trp297*) c.2450G>A (p.Arg817His) Homozygous c.199C>T (p.Pro67Ser)
cardiomyopathy
Glaucoma 4 y
Cataract (6m) Glaucoma 26y
profound IDc.2025dup; p.Asp676* (no walking, c.986T>C;
no language), p.Leu329 Pro pharmaco-resistant
epilepsy, NGF
26 y, profound Compound
ID(nowalking, heterozygous no language), c.2025dup; pharmaco-resistant p.Asp676* seizures. c.986T>C;
p.Leu329 Pro
serum L
Increased serum and CSF L
No scoliosis
bilateral caudate
nuclei and putamen hyperintensities (16 m). Subsequent global cerebral and basal ganglia volume loss with a small lactate peak on MR spectroscopy in the basal ganglia.
14 y (deceased),
Compound heterozygous
CAGSSS: cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome; CC: corpus callosum; CSF: cerebrospinal fluid; DD: developmental delay; F: female; GH: growth hormone; ID: intellectual disability; L: lactate; M: male; m: months; NGF: naso-gastric feeding; NK: not known; P: pyruvate; SD: standard devi- ation; SEMD: Spondylo-epi-metaphyseal dysplasia; WM: white matter; y: years. IARS2 cDNA accession number is NM_018060.3.
haematologica | 2021; 106(4)