ABSTRACT
Fahr’s disease is a disorder characterized clinically by a wide spectrum of varied clinical-neurological and psychiatric manifestations occurring secondary to intracranial calcifications with subsequent neuronal cell loss. Though the disease can present in early childhood or adolescence the usual age of manifestation is around 4th-5th decades of life. We report a series of 6 Fahr’s disease cases with respect to different clinical and radiological manifestations. The details of different clinical manifestations with respect to the disease were studied. The frequency of symptoms, the radiological pattern of intracranial calcifications and the association of different parameters were studied. Progressive cognitive decline and Parkinsonism was detected in all the patients but in none of them it was the chief presenting feature. Seizure was presenting symptoms in 3 patients. Chorea was encountered in 2 patients as the presenting complaint. Mild wide-based cerebellar ataxic gait was found in only one patient but other cerebellar signs were absent. Athetosis, dyskinesia, or dystonia was present in none of our patient. CT scan revealed symmetric basal nuclei and cerebellar calcification in all patients. The disease needs a high index of suspicion and CT brain scanning should always be performed in patients younger than 50 years who present with refractory seizures, Parkinsonism and cognitive decline. However radiological findings did not predict the presentation and outcome.
ABSTRACT
Background: Central nervous system involvement is common in systemic lupus erythematosus but hydrocephalus, especially in children, is rare. Case characteristics: 6- year-old girl with systemic lupus erythematosus with nephritis, on treatment for four months prior to the presentation with features of raised intracranial pressure. Observation: Computed tomography revealed communicating hydrocephalus without any evidence of granulomatous lesion, infarction or thrombosis, with no features of lupus flare. Ventriculoperitoneal shunting provided symptomatic relief after failed medical management. Message: Hydrocephalus may be seen in systemic lupus erythematosus without tuberculosis or major vessel vasculitis.