IllnessArterial calcification, infantile [generalized]; differential diagnosis

NGS +

Early onset (between in utero to infancy) of extensive calcification and stenosis of the large and medium sized arteries. Presentation is typically with respiratory distress, congestive heart failure and systemic hypertension

NT5E mutations cause usually adult onset calcification of joints and arteries, possibly starting in the second decade already.

ABCC6: Arterial calcification, generalized, of infancy, 2

ENPP1: Arterial calcification, generalized, of infancy, 1

• Alias Arterial calcification, idiopathic infantile
• Alias: Arteriopathy, occlusive infantile
• Alias: Idiopathic infantile arterial calcification
• Alias: Idiopathic obliterative arteriopathy
• Alias: Infantile arteriosclerosis
• Alias: Occlusive infantile arteriopathy
• Allelic: Cole disease [guttate hypopigmentation + punctate palmopantar keratoma] (ENPP1)
• Allelic: Diabetes mellitus, non-insulin-dependent, susceptibility to (ENPP1)
• Allelic: Hypophosphatemic rickets, AR, 2 (ENPP1)
• Allelic: Obesity, susceptibility to (ENPP1)
• Allelic: Pseudoxanthoma elasticum (ABCC6)
• Allelic: Pseudoxanthoma elasticum, forme fruste (ABCC6)
• Arterial calcification, generalized, of infancy, 1 (ENPP1)
• Arterial calcification, generalized, of infancy, 2 (ABCC6)
• Calcification of joints + arteries [often later onset] (NT5E)
• Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
• Guttate hypopigmentation, punctate palmoplatar keratoderma +/- ectopic cxalcification (ENPP1)
• Pseudo-TORCH syndrome 1 (OCLN)