javascript:void(0)Case History/examination:
A 29-year-old right-handed, single, and unemployed woman was referred to Firoozgar Hospital, Tehran, Iran, due to behavioral changes and abnormal posturing in her hands in January 2024. Symptoms began five years ago when the patient slowly developed behavioral changes in the form of aggression and withdrawal behaviors and mood disorders, as well as abnormal movements and postures in the left hand and dysarthria. Subsequently, three years later, the patient also experienced a gait disorder that has been worsening progressively over this period. There was no history of seizure, memory loss, or visuospatial disorder, as well as no symptoms of hallucinations, delirium, or catatonia.
In her personal history, she had normal motor millstone, although her primary education was restricted because of difficulties in learning, leading her to discontinue schooling at the age of 11. In the family history, the patient’s parents were first cousins. There were no similar symptoms in other family members. Psychological examination showed a disorganized and slightly disheveled appearance with psychomotor slowness, she has good visual and verbal communication. Consciousness, orientation to time, place, and persons, and also the state of memory, were normal.
In the subsequent examinations, she had a Mini-Mental State Examination (MMSE) score of 22/30. In the neurological examination, she had slurred speech, dystonic posture in her left hand, mild bradykinesia and a masked-face and also dystonic posture in the left foot, which was exaggerated while standing and walking. Kayser-Fleischer (KF) ring was not detected. Eye movements and cerebellar examinations were normal. (Video 1)
Methods (Differential diagnosis, investigations and treatment):
In the brain CT scan, multiple bilateral calcifications were evident in the BG, White Matter, and cerebellar hemispheres, and possible diagnoses of hypoparathyroidism, familial calcification, and Fahr syndrome were proposed for the patient. (Figure 1)
The primary lab tests were all reported within the normal range. (Table 1)
According to the history and the findings of the paraclinical evaluations and lab tests, Fahr syndrome was suggested for the patient. Amantadine 100 mg 2 tablets per day, Levodopa/carbidopa 100/25 twice a day, and serteraline 50 mg daily were started.
Conclusion and Results (Outcome and follow-up):
After three months of follow-up, there was a slight improvement in parkinsonism and dystonic postures. This case report illustrates that recognizing psychiatric and cognitive symptoms, as well as parkinsonism and dystonia, coupled with distinctive imaging results, was critical in establishing the underlying illness. This report, along with findings of imaging and symptom presentation, can be helpful to increase understanding of this disease because our current knowledge of fahr syndrome is limited and the set of symptoms in these patients is diverse including psychiatric symptoms, behavioral and cognitive changes, and abnormal movements.