ESPE Abstracts

Background: Fahr's syndrome is a rare neurological disorder, characterized by symmetric calcifications in basal ganglia, cerebellum, and cerebral cortex, secondary to genetic, infectious, and autoimmune etiologies which can lead to movement and gait disorders, cerebellar and speech abnormalities, and cognitive impairment. Fahr's disease is defined as primary familial idiopathic calcification, while Fahr's syndrome is caused by secondary factors that cause hypoparathyroidism. In this case report, an adolescent with a unique sequence of different manifestations of APS-1 is described who eventually developed Fahr's syndrome. Child developed IDDM in infancy followed by mucocutaneous candidiasis and then hypoparathyroidism with the clinical and radiological manifestations consistent with Fahr’s Syndrome.

Case Description: Patient presented to our hospital with abnormal body movements and painful spasms of limbs. Movements were in the form of twisting of the arms and leg, associated with stiffness of the involved limbs for last two weeks. He had painful spasms involving his hands and feet, associated with pins and needles-like sensations. He was diagnosed with IDDM at 10 months of age, had been on basal-bolus insulin with poor compliance. He had mild intermittent spontaneous twitching of his arms, weight and height were below 3 SDS. He had diabetic arthropathy in the form of stiffening of small joints of hands and feet with restriction of movements, and positive prayer sign. He had abnormally misaligned teeth and oral thrush. Neurological examination was unremarkable. Labs showed calcium 5.9 mg/dl (8.6-10.2 mg/dl), phosphate 8.3 mg/dl (4.0-7.0 mg/dl), vitamin D3 7.0 ng/mL (30–100ng/dL), iPTH level 11.50 pg/ml (16–87 pg/ml), HbA1c 10.4%. Addison, thyroid and celiac screens were negative. EEG showed a single episode of generalized spike and slow waves with a slow posterior dominant rhythm. MRI brain-contrast showed bilateral symmetrical abnormal T1 hyperintense signals in basal ganglia, thalami, red nuclei, dentate nuclei and bilateral cerebellar folia, appearing isointense on T2 weighted images. CT brain revealed symmetrical diffuse extensive calcification. Treatment focused on correcting hypocalcemia, managing seizures, controlling diabetes, and treating candidiasis. He received intravenous calcium followed by oral calcium and active vitamin D, insulin, and antiepileptics. He showed significant improvement in symptoms with normalization of labs. His genetic testing was planned and was discharged home.

Conclusion: APS-1 manifests in early life and affects the endocrine and nonendocrine systems. This case highlights the importance of considering Fahr's Syndrome as a possible cause in patients with polyendocrinopathies having neurological symptoms.