Computed Tomography
•
Computed Tomography in Adrenoleukodystrophy
•
Correlation of Radiological and Histological Findings 1
Eugene E. Duda, M.D., and Peter R. Huttenlocher, M.D. Computed tomograms (CT) demonstrated symmetrical low-density lesions in the white mailer of the posterior portion of the cerebral hemispheres in a 9year-old boy with adrenoleukodystrophy (Schilder's disease), Biopsy of the brain in an area that appeared normal on the CT scan showed profound loss of myel inated fibers and oligodendroglia; the white matter had been replaced by a rather loose acellular stroma consisting of astroglial cells and blood vessels. INDEX TERMS; Adrenoleukodystrophy e Brain Neoplasms, in infants and children • Brain Neoplasms, radionuclide diagnosis. Computed Tomography , cranial
Radiology 120:349-350, August 1976
• studied a child with adrenoleukodystrophy in whom computed tomography (CT) indicated an unusual pattern of abnormality which may prove helpful in the diagnosis of future cases . Biopsy of an area of the brain that appeared abnormal on the CT scan made it possible to obtain correlation between histological and radiographic findings. E RECENTLY
W
CASE REPORT M.G., a 9-year-old boy, was well until 10 months prior to study, when he became poorly attentive and his school performance declined . Within the next 3 months, gait ataxia and choreiform movements developed. he began to drool excessively, and he had difficulty feeding himself. At times he would past point, and he often walked into objects. Intermittently he appeared unable to recognize objects presented to him. No diagnosis was arrived at during several hospital admissions . A brother had died at 5 years of age with a history of progressive ataxia and repeated vomiting of several weeks duration; death occurred shortly after admission to another hospital, and no diagnosis was made. Three other siblings, girls 12 and 10 years of age and a 5-year-old boy, are normal. Both parents are in good health. Examination showed severe dementia. The head was large (58 cm). Skin pigmentation was normal. Speech was dysarthric, somewhat irrelevant, and repetitive. The child followed verbal directions poorly. He was unable to read or write and could not copy simple shapes such as a circle or solve simple arithmetic problems. On examination, the cranial nerves, including the optic fundi, were normal. Visual acuity was grossly normal, but visual inattention was evident. Motor examination showed a mixed pyramidal motor and cerebellar deficit bilaterally, more marked on the left. Intention tremor and past pointing were present in the left hand, and his gait was ataxic and wide-based. Knee and ankle jerks were hyperactive bilaterally, with transient ankle clonus . Plantar responses were extensor. On examination , the cerebrospinal fluid was acellular, with a protein content of 39 mg/dl. CSF immunoglobulins were normal except for a high IgA fraction of 1.2 mg/dl (normal,
•
Computed Tomography in Adrenoleukodystrophy
•
Correlation of Radiological and Histological Findings 1
Eugene E. Duda, M.D., and Peter R. Huttenlocher, M.D. Computed tomograms (CT) demonstrated symmetrical low-density lesions in the white mailer of the posterior portion of the cerebral hemispheres in a 9year-old boy with adrenoleukodystrophy (Schilder's disease), Biopsy of the brain in an area that appeared normal on the CT scan showed profound loss of myel inated fibers and oligodendroglia; the white matter had been replaced by a rather loose acellular stroma consisting of astroglial cells and blood vessels. INDEX TERMS; Adrenoleukodystrophy e Brain Neoplasms, in infants and children • Brain Neoplasms, radionuclide diagnosis. Computed Tomography , cranial
Radiology 120:349-350, August 1976
• studied a child with adrenoleukodystrophy in whom computed tomography (CT) indicated an unusual pattern of abnormality which may prove helpful in the diagnosis of future cases . Biopsy of an area of the brain that appeared abnormal on the CT scan made it possible to obtain correlation between histological and radiographic findings. E RECENTLY
W
CASE REPORT M.G., a 9-year-old boy, was well until 10 months prior to study, when he became poorly attentive and his school performance declined . Within the next 3 months, gait ataxia and choreiform movements developed. he began to drool excessively, and he had difficulty feeding himself. At times he would past point, and he often walked into objects. Intermittently he appeared unable to recognize objects presented to him. No diagnosis was arrived at during several hospital admissions . A brother had died at 5 years of age with a history of progressive ataxia and repeated vomiting of several weeks duration; death occurred shortly after admission to another hospital, and no diagnosis was made. Three other siblings, girls 12 and 10 years of age and a 5-year-old boy, are normal. Both parents are in good health. Examination showed severe dementia. The head was large (58 cm). Skin pigmentation was normal. Speech was dysarthric, somewhat irrelevant, and repetitive. The child followed verbal directions poorly. He was unable to read or write and could not copy simple shapes such as a circle or solve simple arithmetic problems. On examination, the cranial nerves, including the optic fundi, were normal. Visual acuity was grossly normal, but visual inattention was evident. Motor examination showed a mixed pyramidal motor and cerebellar deficit bilaterally, more marked on the left. Intention tremor and past pointing were present in the left hand, and his gait was ataxic and wide-based. Knee and ankle jerks were hyperactive bilaterally, with transient ankle clonus . Plantar responses were extensor. On examination , the cerebrospinal fluid was acellular, with a protein content of 39 mg/dl. CSF immunoglobulins were normal except for a high IgA fraction of 1.2 mg/dl (normal,
