Presentation
Seizures and neuropsychiatric manifestation for 6 months. Facial skin papules since childhood
Patient Data
MRI demonstrates signal loss on all sequences consistent with bilateral amygdala calcifications. Periventricular FLAIR hyperintense signal of small vessel ischemic changes noted.
Bilateral comma-shaped coarse hippocampal calcifications with no surrounding mass effect or edema. Subtle periventricular and deep white matter hypoattenuation suggestive of small vessel changes.
Histopathology of facial skin biopsy:
Macroscopy: Specimen consists of a 5 mm x 3 mm punch biopsy.
Microscopy:
Sections show skin punch biopsy demonstrating an amorphous, acellular eosinophilic material deposited in the papillary dermis, around skin adnexal structures and blood vessels. There is no dysplasia.
Immunohistochemistry:
PAS: positive in the deposit
DPAS: positive in the biopsy
Congo red: negative
Pathologic diagnosis:
Skin biopsy consistent with lipoid proteinosis
Case Discussion
The CT demonstrates bilateral horn like-calcification of the amygdala with no mass effect or surrounding edema. The imaging shows the classical features of lipoid proteinosis. The patient underwent a skin punch biopsy which confirmed a pathological diagnosis consistent with lipoid proteinosis, a rare autosomal recessive disease.