Table 1.
Complications by system in cblC disease
System | Complications |
---|---|
Growth and habitus | Prenatal growth retardation |
Postnatal failure to thrive | |
Marfanoid habitus | |
Dysmorphic facial features | |
CNS | Congenital microcephaly |
Seizures | |
Developmental delay | |
Regression | |
Cognitive impairment ranging from executive dysfunction to severe mental retardation (Rosenblatt et al. 1997) | |
Neuropsychiatric disturbances | |
Subacute combined degeneration of the spinal cord | |
Leukoencephalopathy | |
Basal ganglia lesions (less frequent)a | |
Eye | Maculopathy |
Progressive pigmentary retinopathy | |
Optic atrophy | |
Blindness | |
Blood | Anemia, thrombocytopenia and/or neutropenia, megaloblastosis |
Vascular | Recurrent venous thrombosis |
Cor pulmonaleb or subclinical pulmonary thrombosis | |
Cerebrovascular complicationsc | |
Renal | Hemolytic-uremic syndrome |
Chronic thrombotic microangiopathy | |
Heart | Congenital heart defects |
Left ventricular noncompaction | |
Fetal dilated cardiomyopathyd | |
Other | Hepatic steatosise |
Dermatitisf |