Tuesday, January 20, 2009

Brain calcinosis syndrome

ref Baba et al. Heredofamilial brain calcinosis syndrome Mayo Clin Proc 2005;80:641-651
(a little dry for this blog)

List of causes:

80+% clinically benign
sporadic or familial I With abnormal calcium or magnesium metabolism
Hypoparathyroidism (idiopathic, postsurgical, external radiation, hypomagnesemia)
Pseudohypoparathyroidism (type II, idiopathic)

II Without Ca/Mg abnormalities
Down's syndrome
Mitochondrial neuromyopathy (Kearns-Sayre syndrome, Pearson s.)
IgG kappa M proteinemia
Revesz syndrome
infectious (toxopl, mumps, EBV, CMV, HIV)
angiomatous malformations of the vein of Galen
Toxic (lead, CO)
Therapy induced ( XRT, anticancer drugs, mineralizing microangiopathy)
Without systemic involvement
Diffuse NFT with calcification
hyperkinetic mutism
idiopathic (Fahr's dis, striatopalidodentate calcinosis, bg calcification)

Genetic syndromes with chromosome identified (see reference for actual gene loci)

Familial isolated hypoparathyroidism
Autoimmune polyglandular syndrome
Pseudohypoparathyroidism types Ia and Ib
Aicardi syndrome (in first year of life, may see calcium in thalamus, cerebellum also)
Dihydropterine reductase syndrome (=PKU type 2 atypical form)-- may be arrested by folic
Cockayne syndrome
Others (see text)

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