Presentation
Entire Body System
- Recurrent Respiratory Infections
Recurrent respiratory infections occur occasionally. Respiratory distress due to muscle weakness, obstructive sleep apnea, tracheomalacia, and abnormal breathing has also been reported. Skeletal. [ncbi.nlm.nih.gov]
- Progressive Dementia
Primary symptoms of the disease are developmental delay, progressive intellectual disability, hypotonia (low muscle tone), spasticity (stiffness of the limbs) possibly leading to quadriplegia, and progressive dementia. [en.wikipedia.org]
Respiratoric
- Respiratory Distress
The first patient developed intractable diarrhea, profound weakness, respiratory distress, and died at 3 months. The other two unrelated patients had a much milder phenotype and are still alive at ages 27 and 36 months. [ncbi.nlm.nih.gov]
Gastrointestinal
- Recurrent Vomiting
The feeding difficulties, recurrent vomiting, and gastroesophageal reflux disease can lead or contribute to failure to thrive in affected infants. [ncbi.nlm.nih.gov]
Musculoskeletal
- Long Arm
A high-density single-nucleotide polymorphism (SNP) array analysis revealed that the first patient had a region of copy-neutral absence of heterozygosity (AOH) consistent with segmental isodisomy for an 11.3 Mb region at the long-arm terminus of chromosome [ncbi.nlm.nih.gov]
Skin
- Hyperhidrosis
Hyperhidrosis and neonatal hypoglycemia have occasionally been reported. [ncbi.nlm.nih.gov]
Neurologic
- Quadriplegia
Primary symptoms of the disease are developmental delay, progressive intellectual disability, hypotonia (low muscle tone), spasticity (stiffness of the limbs) possibly leading to quadriplegia, and progressive dementia. [en.wikipedia.org]
Workup
Biopsy
- Liver Biopsy
Histological changes on liver biopsy include fatty degeneration, bile duct proliferation, fibrosis and collapse of lobular architecture. [ijponline.biomedcentral.com]
The hepatic mitochondrial DNA depletion syndrome: ultrastructural changes in liver biopsies. Hepatology 2001;34:776–784. PubMed CrossRef Google Scholar 59. Spinazzola A, Viscomi C, Fernandez-Vizarra E, et al. [doi.org]
The hepatic mitochondrial DNA depletion syndrome: ultrastructural changes in liver biopsies. Hepatology. 2001; 34 :776–784. doi: 10.1053/jhep.2001.27664. [ PubMed ] [ CrossRef ] [ Google Scholar ] 59. [ncbi.nlm.nih.gov]