Rare Pediatric Presentation of Fahr Syndrome with Seizures and Ataxia
Abstract number :
3.174
Submission category :
18. Case Studies
Year :
2024
Submission ID :
501
Source :
www.aesnet.org
Presentation date :
12/9/2024 12:00:00 AM
Published date :
Authors :
Presenting Author: Rita Yu, MD – Ajou University School of Medicine
Rationale: In Fahr syndrome, secondary basal ganglia calcification can be caused by endocrinopathies of parathyroid hormone(PTH), infections, vasculitis, some mitochondrial disorders or some inherited disorders. Both are associated with variable neurologic symptoms such as movement abnormalities, cognitive impairments, psychiatric symptoms, seizures, and cerebellar dysfunction. Both are rare, Fahr disease commonly observed in patients in their 40~60s, Fahr syndrome in their 30~40s, and even rarer in children. We present here an uncommon case of Fahr syndrome in a 10-year-old female patient, who was later diagnosed with pseudohypoparathyroidism.
Methods: A 10-year-old girl was admitted after she visited the ER due to generalized tonic seizures which occurred 4 times in 24 hours. The patient was alert at the time of her ER arrival and no abnormal findings were noted from the patient’s neurological examination. Episodic ataxia was suspected according to the patient’s complain sudden loss of movement control, especially during dynamic motions, such as dancing or running, sometimes accompanied with headaches. The initial laboratory results showed low calcium levels at 6.8mg/dL(7.6~10.2mg/dL), low ionized calcium levels at 3.72mg/dL(4.2~5.4mg/dL), and high levels of inorganic phosphorus at 7.4mg/dL(4.5~4.8mg/dL), alkaline phosphatase at 305U/L(60~300U/L). Brain CT was done during the patient’s stay in the ER, which showed multiple calcifications in both basal ganglia, thalami and parts of white matter in both frontal lobes(Img 1). Follow-up laboratory tests were done to find elevated levels of parathyroid hormone(PTH) at 457pg/ml(7~65pg/ml), and decreased levels of 25-OH-vitamin D at 14.2ng/ml(30~100ng/ml). Further evaluation was carried out with a brain MRI in which high signal intensity was noted in both basal ganglia, and thalami in axial T1 weighted MRI(Img 2).
Results: With consultation with the pediatric endocrinology division, the patient was treated with IV calcium gluconate, oral calcitriol and vitamin D. The patient’s EEG showed somewhat slow and disorganized background activity but no definite epileptiform discharges were noted except for single non-specific sharp wave discharges from Lt. frontal and Rt. central area, independently. After serum calcium levels were normalized, IV calcium were switched to oral calcium and the patient was discharged as she had shown no additional seizures for more than 72 hours and no neurological deficit afterwards.
Conclusions: Fahr syndrome is rare neuropsychiatric disorder and even more so amongst children. Sporadically reported cases are mainly due to hypoparathyroidism with low PTH, in contrast to which our patient has presented high PTH levels, and was later diagnosed with pseudohypoparathyroidism. The few pediatric case reports caution careful differentiation from epilepsy or transient hypocalcemic seizures, as the patients may be treated with long-term endocrinological management.
Funding: No funding has been received in support of this abstract.
Case Studies