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

References:

^aLongo et al. 2005.

^bBrandstetter et al. 1990; Profitlich et al. 2009a.

^cBrunelli et al. 2002; Geraghty et al. 1992.

^dDe Bie et al. 2009.

^eRusso et al. 1992; Brandstetter et al. 1990; McCully 1969; Geraghty et al. 1992.

^fHoward et al. 1997