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.