Article Text

Unilateral caudate head lesion simulating brain tumour in X-linked adult onset adrenoleukodystrophy
  1. R SAKAKIBARA,
  2. T FUKUTAKE,
  3. K ARAI,
  4. K KATAYAMA,
  5. M MORI,
  6. T HATTORI
  1. Neurology Department Chiba University, 1–8–1 Inohana Chuo-Ku, Chiba 260–8670 Japan
  2. Neurology Department Kashima Rosai Hospital
  3. 1–9108–2 Doai-Honmachi Hasaki
  4. Kashima 314–03 Japan
  1. Dr R Sakakibara sakaki{at}med.m.chiba-u.ac.jp
  1. R SAKAKIBARA,
  2. T FUKUTAKEK,
  3. K KATAYAMA,
  4. M MORI
  1. Neurology Department Chiba University, 1–8–1 Inohana Chuo-Ku, Chiba 260–8670 Japan
  2. Neurology Department Kashima Rosai Hospital
  3. 1–9108–2 Doai-Honmachi Hasaki
  4. Kashima 314–03 Japan
  1. Dr R Sakakibara sakaki{at}med.m.chiba-u.ac.jp

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The appearance of X-linked adrenomyeloneuropathy (AMN)/adrenoleukodystrophy (ALD) on MRI is usually specific, with bilateral symmetric areas of white matter abnormality surrounding the posterior horns of the lateral ventricles with various degrees of atrophy of the spinal cord.1 Our patient with AMN, however, showed a lesion in the right caudate head simulating a brain tumour, which has not been a feature in this disease.

At the age of 25 the patient started to have progressive spastic paraparesis and mild ataxia with genitourinary dysfunction (urge urinary incontinence and erectile dysfunction).2 On admission to our hospital at the age of 34, T2 weighted MR images showed small lesions in the bilateral internal capsule although no abnormality was seen in the spinal cord. Nerve conduction studies and the sural nerve biopsy showed evidence of peripheral nerve involvement. A low serum cortisol response to intravenous adrenocorticotropic hormone and increased concentration of plasma very long chain fatty acids were consistent with a diagnosis of AMN. Three years later he showed marked emotional lability. T2 weighted MRI showed a high signal mass lesion in the right caudate head and the ipsilateral anterior internal capsule which simulated an intracranial tumour, without marked demyelination in the surrounding deep white matter (fig 1). A year later he became wheelchair bound, apathetic, and demented. Brain MRI showed right sided dominant white matter abnormalities and atrophy of the spinal cord. Three years later he died of respiratory infection and necropsy was performed. Pathological examination showed frontotemporal cortical atrophy with diffuse white matter demyelination including bilateral internal capsules, where astrocytes proliferated and lipid laden macrophages infiltrated around the small vessels. Neurons were moderately shrunken and the neuropil showed tissue rarefaction. Demyelination was also seen in the cerebellar white matter. The caudate head showed bilateral but right side dominant atrophy, where neuronal loss and tissue rarefaction with fibrillary gliosis (spongy state) were seen (fig2).

Figure 1

Brain MRI of the patient at the age of 37. T2 weighted MR images showed a high signal mass lesion in the right caudate head and the ipsilateral anterior internal capsule which simulated an intracranial tumour, without marked demyelination in the surrounding deep white matter.  

Figure 2

Microscopic section of the right caudate head (haematoxylin-eosin staining, originally×50). This shows neuronal loss and tissue rarefaction with fibrillary gliosis, presenting as spongy with little inflammation.

Previous reports of X-ALD/AMN showed occasional unilateral basal ganglia involvement. Afifi et alreported on a 4.8 year old boy whose MRI showed a right anterior white matter lesion extending into the ipsilateral putamen and the thalamus.3 Close et aldescribed an 8 year old boy who had a left occipitotemporal white matter lesion extending into the ipsilateral thalamus on MRI.4 However, the imaging pattern in our patient is unique because of the high signal mass lesion in the right caudate head and the ipsilateral anterior internal capsule without marked demyelination in the surrounding white matter, falsely suggestive of a brain tumour. There are also other demyelinating disorders simulating brain tumour which include multiple sclerosis.5 The findings indicate that plasma very long chain fatty acid concentrations should be measured in patients with unexplained basal ganglia abnormalities on MRI.

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