[A case of pseudoxanthoma elasticum associated with asymptomatic multiple cerebral infarction, hypothyroidism, glucose tolerance abnormality and multiple congenital anomalies].

We report a case of pseudoxanthoma elasticum (PXE) associated with asymptomatic multiple cerebral infarction on magnetic resonance imaging (MRI), endocrinological abnormalities and multiple congenital physical anomalies. A 40-year-old woman suddenly developed paresthesia in the right half of the body. Physical examination demonstrated loosening of the skin and yellowish papules in the neck and axilla, retinal angioid streaks, cardiac mitral regurgitation, congenital aplasia of the uterus and vagina, and congenital abduction palsy of the right eye. The biopsy of the papules in the neck showed typical features of PXE. Laboratory tests revealed positive antibodies to thyroglobulin and microsome, high TSH level with normal free T3 and T4, and impaired glucose tolerance. The laboratory data and the findings of ultrasonic examination on the thyroid suggested presence of Hashimoto's disease. MRI of the brain demonstrated multiple cerebral infarcts through they were asymptomatic. MRI failed to clarify the lesion responsible for the hemiparesthesia. Carotid arteriography showed slight stenosis with ulceration near the origin of the right internal carotid artery, and severe stenosis of the horizontal portion of the right middle cerebral artery. MRI study of the brain is recommended in PXE patients since the complication of brain pathology worsens the prognosis of the disease.