Presentation
Barth syndrome is characterized in affected males by cardiomyopathy, neutropenia, skeletal myopathy, prepubertal growth delay, and distinctive facial gestalt (most evident in infancy); not all features may be present in a given affected male. [ncbi.nlm.nih.gov]
View abstract Lyme carditis in children: presentation, predictive factors, and clinical course. Pediatrics. 2009 May; 123(5):e835-41. [childrenshospital.org]
Tuberous Sclerosis Complex: A review of the past, present and future. Turk J Med Sci. 2020; 28. DOI: 10.3906/sag-2002-133 [ Links ] [scielo.org.pe]
Urogenital
- Cryptorchidism
Many males with DCMA syndrome have genital abnormalities such as undescended testes (cryptorchidism) or the urethra opening on the underside of the penis (hypospadias). [medlineplus.gov]
Workup
Serum
- Microcytic Anemia
[from GeneReviews] Show allHide all Abnormal cellular phenotype Abnormal mitochondrial morphology Abnormality of blood and blood-forming tissues Hypochromic microcytic anemia Abnormality of head or neck Broad forehead Full cheeks High forehead Mandibular [ncbi.nlm.nih.gov]
Other common features of DCMA syndrome include unusually small red blood cells (microcytic anemia), which can cause pale skin; an abnormal buildup of fats in the liver (hepatic steatosis), which can damage the liver; and the degeneration of nerve cells [medlineplus.gov]
Treatment
Current evidence for treatment with nusinersen for spinal muscular atrophy: a systematic review. Acta Neurol Belg. 2019;119(4):523-33. DOI: 10.1007/s13760-019-01199-z [ Links ] 39. [scielo.org.pe]
View abstract Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome. Ann Clin Transl Neurol. 2018 03; 5(3):323-332. [childrenshospital.org]
Etiology
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options. Biochem Genet. 2018; 56(1-2):7-21. DOI: 10.1007/s10528-017-9825-6 [ Links ] 51. Blackburn PR, Gass JM, Vairo FP e, Farnham KM, Atwal HK, Macklin S, et al. [scielo.org.pe]
Pathophysiology
Lysosomal storage diseases: from pathophysiology to therapy. Annu Rev Med. 2015;66:471-86. DOI: 10.1146/annurev-med-122313-085916 [ Links ] 64. Hagin D, Burroughs L, Torgerson TR. [scielo.org.pe]
Prevention
Beginning in infancy to early childhood, most people with DCMA syndrome develop dilated cardiomyopathy, which is a condition that weakens and enlarges the heart, preventing it from pumping blood efficiently. [medlineplus.gov]
View abstract Time dependence of risks and benefits in pediatric primary prevention implantable cardioverter-defibrillator therapy. Circ Arrhythm Electrophysiol. 2014 Dec; 7(6):1057-63. [childrenshospital.org]