Amygdalae and striatum calcification in lipoid proteinosis.
Lipoid proteinosis is a rare genodermatosis characterized by multisystem involvement due to intracellular deposition of an amorphous hyaline material. Lipoid proteinosis is caused by mutations in the ECM1 gene. In many patients, skin and mucosa abnormalities are the first manifestation. When the CNS is affected, a wide variety of neurologic abnormalities may be present. The hallmark findings are calcifications, mostly occurring in the amygdalae, hippocampus, parahippocampal gyrus, or even the striatum. Present in half of the patients, moniliform blepharosis is considered a pathognomonic finding. In the other half of patients imaging could assist in the diagnosis. The authors present a series of 3 cases of lipoid proteinosis with brief clinical data and imaging findings.
Gonçalves
F G
FG
Departamento de Radiologia do Hospital Universitário da Universidade de Brasília, Brasília, DF, Brazil. goncalves.neuroradio@gmail.com
de Melo
M B
MB
de L Matos
V
V
Barra
F R
FR
Figueroa
R E
RE
D000293:Adolescent; D000679:Amygdala; D001927:Brain Diseases / Q000209:etiology*; D002114:Calcinosis / Q000209:etiology*; D003342:Corpus Striatum; D005260:Female; D006801:Humans; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000150:complications*; D008297:Male; D008875:Middle Aged
Br J Dermatol. 2004 Aug;151(2):413-23
15327549
Int J Pediatr Otorhinolaryngol. 2004 Dec;68(12):1557-61
15533571
J Neuropsychiatry Clin Neurosci. 2008 Winter;20(1):86-92
18305289
Neurology. 2004 Dec 14;63(11):2168-9
15596773
Clin Dermatol. 2005 Jan-Feb;23(1):41-6
15708288
Acta Neuropathol. 2002 Mar;103(3):281-7
11907809
Hum Mol Genet. 2002 Apr 1;11(7):833-40
11929856
J Laryngol Otol. 2002 Sep;116(9):736-9
12437814
Arch Neurol. 2006 Dec;63(12):1798-801
17172622
Seizure. 2007 Jul;16(5):465-8
17403608
J Neuroimaging. 2006 Apr;16(2):154-6
16629738