Book contents
- Frontmatter
- Contents
- List of contributors
- Preface
- Acknowledgment
- Section 1 Head and neck
- Case 1 Trilateral retinoblastoma
- Case 2 Fibromatosis colli
- Case 3 Craniopharyngioma
- Case 4 Labyrinthitis ossificans
- Case 5 Branchio-oto-renal syndrome
- Case 6 Medulloblastoma
- Case 7 Ectopic cervical thymus
- Case 8 X-linked adrenoleukodystrophy
- Case 9 Langerhans cell histiocytosis
- Case 10 PHACES syndrome (Posterior fossa malformations, Hemangiomas of the face, Arterial anomalies, Cardiovascular anomalies, Eye anomalies, and Sternal defects or supraumbilical raphe)
- Section 2 Thoracic imaging
- Section 3 Cardiac imaging
- Section 4 Vascular and interventional
- Section 5 Gastrointestinal imaging
- Section 6 Urinary imaging
- Section 7 Endocrine - reproductive imaging
- Section 8 Fetal imaging
- Section 9 Musculoskeletal imaging
- Index
- References
Case 8 - X-linked adrenoleukodystrophy
from Section 1 - Head and neck
Published online by Cambridge University Press: 05 June 2014
- Frontmatter
- Contents
- List of contributors
- Preface
- Acknowledgment
- Section 1 Head and neck
- Case 1 Trilateral retinoblastoma
- Case 2 Fibromatosis colli
- Case 3 Craniopharyngioma
- Case 4 Labyrinthitis ossificans
- Case 5 Branchio-oto-renal syndrome
- Case 6 Medulloblastoma
- Case 7 Ectopic cervical thymus
- Case 8 X-linked adrenoleukodystrophy
- Case 9 Langerhans cell histiocytosis
- Case 10 PHACES syndrome (Posterior fossa malformations, Hemangiomas of the face, Arterial anomalies, Cardiovascular anomalies, Eye anomalies, and Sternal defects or supraumbilical raphe)
- Section 2 Thoracic imaging
- Section 3 Cardiac imaging
- Section 4 Vascular and interventional
- Section 5 Gastrointestinal imaging
- Section 6 Urinary imaging
- Section 7 Endocrine - reproductive imaging
- Section 8 Fetal imaging
- Section 9 Musculoskeletal imaging
- Index
- References
Summary
Imaging description
A six-year-old male presented with hyponatremia and hyperpigmentation. MRI of the brain was obtained which showed abnormal FLAIR signal within the splenium of the corpus callosum (Fig. 8.1a). Sagittal and axial postcontrast T1-weighted images demonstrated prominent zonal enhancement along the anterior margin of the lesion (Fig. 8.1b, c).The findings were strongly suggestive of adrenoleukodystrophy.
Importance
X-linked adrenoleukodystrophy (XALD) is a genetic disorder affecting the adrenal cortex and the central nervous system (CNS) with wide phenotypic variability. XALD is caused by mutations in the ABCD1 gene located on chromosome Xq28 which encodes a peroxisomal membrane transporter protein (XALDP). This mutation causes accumulation of saturated very long chain fatty acids in all tissues, especially CNS white matter and adrenal cortex. As such, XALD is considered within the general category of peroxisome disorders.
The pathologic abnormalities in the brain consist of widespread demyelination of the white matter. In most cases, the process starts in the splenium of the corpus callosum and spreads bilaterally to the occipital and parietal periventricular regions. Histopathologic examination reveals different zones of demyelination within the affected brain, with anterior zones demonstrating active inflammatory demyelination, while posterior zones appear destroyed and burnt out.
- Type
- Chapter
- Information
- Pearls and Pitfalls in Pediatric ImagingVariants and Other Difficult Diagnoses, pp. 23 - 24Publisher: Cambridge University PressPrint publication year: 2014