Fahr syndrome, rare cause of neuropsychiatric manifestations in children: A two cases report

Fahr syndrome is a rare anatomo-clinical entity in pediatrics. Associating calcifications of the basal ganglia with phospho-calcium metabolism disorders, most often resulting in neuropsychiatric symptoms. In our study, the discovery of this syndrome in our two patients was fortuitous thanks to the typical radiological appearance, associated with the clinical picture they initially presented, hence the interest of brain imaging in the diagnosis of this syndrome.

Dumbness revealing Fahr syndrome

Fahr’s syndrome is an anatomoclinical entity, defined by Theodor Fahr in 1930. It is determined by the presence of intracerebral, bilateral and symmetrical calcifications, non-arteriosclerotic, located in the basal ganglia. One of its main aetiologies is Pseudohypoparathyroidism (PHP), which shows resistance to the action of Parathyroid hormone (PTH), with mainly hypocalcemia and normal to high levels of PTH. The clinical manifestations of the disease do not correspond to any specific picture, but they can be dominated by various neuropsychiatric symptoms. We report the case of a 28-year-old young man who had a first psychotic attack a year ago, treated but without therapeutic observance, and who presented for mutism revealing Fahr syndrome. The evolution was marked by an improvement under conventional neuroleptics. Keywords: Fahr syndrome; chronic psychotic disorder; neuroleptic.

Fahr syndrome associated with post-thyroidectomy hypoparathyroidism

Context: Fahr’s syndrome is a rare disorder characterized by bilateral and symmetrical abnormal calcifications in basal ganglia and cerebral cortex. Those calcified deposits are due to changes in calcium and phosphorus metabolisms that can be caused by endocrine disorders, mitochondrial myopathies, dermatological and infectious diseases. Clinical manifestations may include a variety of extrapyramidal, cerebelar and neuropsychiatric syndromes. Case report: This study describes a 75-year-old female patient that underwent total thyroidectomy in 1985 due to a multinodular goiter and presented postsurgical hypoparathyroidism. The patient missed follow-up apppoointments with Endocrinology and stopped treating her parathyroid condition. Some time later, she presented with change in behavior, drowsiness, paraesthesias, limb spasms and seizures. A CT scan of the brain was performed, showing multiple and extensive calcifications reaching the cerebellar hemispheres, basal ganglia, thalamus and white subcortical substance symmetrically. Laboratory examinations revealed hypocalcemia, hyperphosphatemia, and low parathyroid hormone (PTH) levels. Intravenous calcium gluconate was used to corret the Ca/P dysfunction. Additionally, appropriate antiepileptic drugs for seizures were used. She presented with progressive improvement of symptoms after treatment. Conclusions: This case report demonstrates the importance of post- thyroidectomy follow-up and early recognition of Fahr syndrome’s symptoms, which prevents the progression of neurological conditions.

Basal Ganglia Calcification. Aetiopathogenesis, Diagnostics, Clinical Manifestations

Fahr disease is a rare hereditary or sporadic neurological condition characterized by bilateral calcium deposition in the basal ganglia, dentate nuclei of cerebellum, and subcortical white matter. We can also distinguish Farh syndrome when its etiology is associated with the disorder of calcium metabolism, mitochondriopathies, cerebrum neoplasms, infections, inflammatory diseases of the nervous system, and injuries. The most common manifestations in patients with calcification of the basal ganglia of cerebrum are neurological and/or psychiatric disorders of varying severity. The clinical manifestation of the disease can occur at different ages, but mainly in young and middle-aged adults. However, some patients remain asymptomatic throughout their lives. The main clinical manifestations of the disease are extrapyramidal and movement disorders, emotional and cognitive impairments. At the same time, the correspondence of the form and severity of neurological conditions and the nature of calcification of the basal ganglia is rare. Currently, the treatment strategy for Fahr disease is based on symptomatic therapy and correction of etiological factors in Fahr syndrome. There is information about the reversibility of the calcification process and the complete restoration of mental functions in the early diagnosis and treatment of Fahr syndrome.