LETTER TO THE EDITOR
Adult-onset, isolated respiratory chain complex-IV deficiency with mild manifestations
1
Klinikum Landstrasse, Messerli Institute, Vienna, Austria
2
Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna, Vienna, Austria
Submission date: 2020-11-23
Acceptance date: 2021-04-25
Publication date: 2021-09-30
Pol J Pathol 2021;72(2):185-189
KEYWORDS
TOPICS
ABSTRACT
Isolated respiratory chain complex-IV deficiency (ICIVD) usually manifests clinically as an early-onset, severe, multisystem mitochondrial disorder (MID) and only rarely with mild manifestations. Here we present an adult patient with late onset ICIVD with slowly progressive, mild clinical manifestations.
In a 57-years old Caucasian male with exercise-induced myalgia, muscle cramps, ptosis, and recurrent creatine-kinase (CK) elevation, muscle biopsy and biochemical investigations of the left lateral vastus muscle revealed ICIVD. He additionally had developed diabetes, arterial hypertension, hyperlipidemia, retinal detachment, transient hypothyroidism, and a hearing fall. The family history was positive for diabetes, Parkinsonism, and dementia in the mother and myopathy in the brother, suggesting maternal transmission of the MID.
Conclusions: ICIVD may manifest in adulthood with only mild manifestations and may take a slowly progressive course. Patients with mild hyper-CKemia and mild multisystem manifestations, including the muscle, profit from muscle biopsy
and biochemical investigations.
In a 57-years old Caucasian male with exercise-induced myalgia, muscle cramps, ptosis, and recurrent creatine-kinase (CK) elevation, muscle biopsy and biochemical investigations of the left lateral vastus muscle revealed ICIVD. He additionally had developed diabetes, arterial hypertension, hyperlipidemia, retinal detachment, transient hypothyroidism, and a hearing fall. The family history was positive for diabetes, Parkinsonism, and dementia in the mother and myopathy in the brother, suggesting maternal transmission of the MID.
Conclusions: ICIVD may manifest in adulthood with only mild manifestations and may take a slowly progressive course. Patients with mild hyper-CKemia and mild multisystem manifestations, including the muscle, profit from muscle biopsy
and biochemical investigations.
REFERENCES (11)
1.
Rahman J, Rahman S. Mitochondrial medicine in the omics era. Lancet 2018; 391: 2560-2574.
2.
Debray FG, Lambert M, Chevalier I, et al. Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases. Pediatrics 2007; 119: 722-733.
3.
Scaglia F, Towbin JA, Craigen WJ, et al. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics 2004; 114: 925-931.
4.
Pillai NR, AlDhaheri NS, Ghosh R, et al. Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures. Am J Med Genet A 2019; 179: 2138-2143.
7.
Renkema GH, Visser G, Baertling F, et al. Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions. Hum Genet 2017; 136: 759-769.
8.
Roos S, Sofou K, Hedberg-Oldfors C, et al. Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile. Eur J Hum Genet 2019; 27: 331-335.
9.
Lamperti C, Diodato D, Lamantea E, et al. MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I. Neuromuscul Disord 2012; 22: 990-994.
10.
Zierz CM, Baty K, Blakely EL, et al. A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia. J Clin Med 2019; 8: 789.
11.
Zhou M, Xue L, Chen Y, et al. A hypertension-associated mitochondrial DNA mutation introduces an m1G37 modification into tRNAMet, altering its structure and function. J Biol Chem 2018; 293: 1425-1438.
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| ISSN: | 1233-9687 |
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