Computed tomographic visualization of extensive calcinosis in a patient with idiopathic familial basal ganglia calcification.
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Biomedical subjects
Publications and source records attributed to M Boller.
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Nine members of a family spanning three generations showed bilateral calcifications of the basal ganglia with autosomal dominant inheritance. Two members developed chorea, dementia, and a characteristic speech disturbance (palialalia) in the third or fourth decade. A third member possibly shows the initial stage of a similar syndrome. Six members with calcifications but without neurological signs are younger than 25 years. All nine patients had normal calcium and phosphorus, and no evidence of endocrinological or somatic abnormalities. Thie 'isiopathic' picture must be differentiated from hypoparathyroidism and pseudohypoparathyroidism.
Computed tomography (CT) has proven useful in diagnosing inflammatory and neoplastic disease of the pancreas. Neoplasms of the pancreas produce enlargement of the gland and loss of surrounding fat planes. Acute pancreatitis also produces enlargement but correct diagnosis can be made with the clinical correlation. The usefulness of CT in chronic pancreatitis depends upon the state of the disease. Distinction between an inflammatory and a neoplastic mass is not possible on the basis of a CT scan alone. CT is also useful for needle guidance for aspiration biopsy of the pancreas.
Diffuse deposition of ceroid pigment in the muscularis propria of the gastrointestinal tract in a patient with a long history of malabsorption of unknown origin is reported. The depostion of this waste pigment is not reversible and is related to prolonged depletion of vitamin E. Progressive dilatation and hypomotility of the entire gastrointestinal tract are demonstrated by radiographic studies and possibly related to infiltrate of ceroid pigment in the smooth muscle cell with resulting functional impairment. In the differential diagnosis of ceroidosis with other disease, scleroderma has the closest roentgenographic similarity. Pseudoobstruction of the small bowel which can develop must be treated conservatively to avoid unnecessary bowel resection.
The utility of computed tomography (CT) in the study of the anatomy, physiology, and pathology of the human body has been the subject of considerable interest since the introduction of CT scanning. The advent of a new prototype scanning device has made it possible to examine a variety of abnormalities in the abdomen and thorax in a manner not previously possible. This development permits a remarkable insight into the study of human disease in vivo.
This report describes our experience with CT scanning in a patient with idiopathic familial basal ganglia calcifications. The clinical symptoms were characterized by late onset of progressive mental deterioration, seizures, involuntary movements and speech disorder. An extensive deep cerebral calcification was clearly visualized with CT as was midbrain and cerebellar calcification. Our communication is the first which documents CT profile of this rare disorder.