Endocrine Abstracts

Background: Fahr syndrome is a rare entity characterized by symmetrical bilateral brain calcifications, involving basal ganglia (mainly), thalami, dentate nuclei and the cerebral and cerebellar white matter. Progressive neurologic dysfunction and other neuropsychiatric disorders are characteristic. Endocrine disorders which may present with Fahr syndrome include parathyroid dysfunction (hypoparathyroidism especially, but also pseudohypoparathyroidism, pseudopseudohypoparathyroidism and hyperparathyroidism) and vitamin D deficiency.

Case report: We present the case of a 22-year-old male patient, referred for evaluation from the Neurology department. He came from non-cosanguineous parents, had a healthy 15-year-old sister and the mother reported normal pregnancy, delivery and development; at age 7, he was diagnosed with epilepsy with generalized tonic–clonic seizures, following an episode of infectious meningo-encephalitis. He received various antiepileptic drugs during the following years (carbamazepine, valproic acid, levetiracetam) with weak seizure control. From the patient’s medical history, we highlight recurrent episodes of hypocalcemia (e.g. 3.26 mg/dl (8.4–10.2) at age 9), right eye surgery for posterior subcapsular cataract at age 21 and mild mental impairment. Despite being advised to seek endocrinological assessment, the mother failed to do so. During neurologic evaluation, brain scan revealed extensive symmetrical calcifications, concerning basal ganglia, thalami, dentate nuclei, cerebral and cerebellar white matter, highly suggestive for Fahr syndrome. Physical examination revealed resting and intentional tremor, tetra-ataxia and cogwheel rigidity. EEG revealed non-specific changes. On admission in our clinic, calcium levels were 4.36 mg/dl (normoalbuminemia), phosphate 10 mg/dl (2.5–4.5), magnesium 1.41 mg/dl (1.6–2.6), 24 h calciuria 69 mg (5–300) and parathormone 2.66 pg/ml (15–65). Vitamin D was normal and no other hormone deficiencies, nor thyroid autoimmunity were associated. Ophtalmologic examination revealed posterior subcapsular left eye cataract, with surgical treatment indication. A diagnosis of primary hypoparathyroidism (PH) was established and treatment with alphacalcidol, calcium and magnesium supplements, along with valproic acid and levetiracetam was recommended. 6 months later, the patient demonstrated normal calcium and magnesium levels, a phosphate of 5.7 mg/dl, marked amelioration of tremor and reported seizure cessation. He received indications for gradual valproate withdrawal, but given the extensive nature of cerebral calcifications and the persistence of non-specific EEG changes, chronic levetiracetam treatment was recommended.

Discussions and conclusion: PH may associate Fahr syndrome, along with chronic hypocalcemia, both of which may trigger epileptic seizures. Diagnosing PH in an already complicated form, in context of longstanding intractable epilepsy is rare and undesirable, but timely treatment may greatly improve epileptic manifestations, in spite of extensive cerebral calcifications and is essential in order to avoid further aggravation.