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. Author manuscript; available in PMC: 2013 Jan 1.
Published in final edited form as: J Inherit Metab Dis. 2011 Jul 12;35(1):103–114. doi: 10.1007/s10545-011-9365-x

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
HHS Vulnerability Disclosure