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MRI demyelination pattern and clinical course in a child with cerebral X-linked adrenoleukodystrophy (X-ALD).

Nowak J, Löbel U, Wölfl M, Schlegel PG, Warmuth-Metz M - Acta Radiol Open (2015)

Bottom Line: The clinical spectrum in boys with X-linked adrenoleukodystrophy (X-ALD) ranges from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination.In the individual case, the disease course still remains unpredictable.We report on MRI findings and clinical course of cerebral X-ALD in a young boy with a rare subtype of white matter demyelination.

View Article: PubMed Central - PubMed

Affiliation: Departments of Radiology and Neuroradiology, University Hospital of Würzburg, Würzburg, Germany.

ABSTRACT
The clinical spectrum in boys with X-linked adrenoleukodystrophy (X-ALD) ranges from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination. In the individual case, the disease course still remains unpredictable. Research findings suggest an important role of brain magnetic resonance imaging (MRI) lesion patterns as prognostic markers for X-ALD. Hence, familiarity with imaging features of childhood X-ALD in combination with clinical manifestation is required in order to stratify affected patients for therapy. We report on MRI findings and clinical course of cerebral X-ALD in a young boy with a rare subtype of white matter demyelination.

No MeSH data available.


Related in: MedlinePlus

T2-weighted (a, c) and T1-weighted (b) MR images showing the “cerebral inflammatory phenotype” of X-ALD with severe, symmetric demyelination of the frontal WM (a, arrow). Diverging signal intensities in (a) and contrast enhancement in (b, arrow) indicate different activity of demyelination. Symmetric involvement of the long fiber tracts is common in X-ALD (c, arrow). 1.5 T Siemens Aera (Siemens Medical Systems, Erlangen, Germany).
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fig1-2047981615573655: T2-weighted (a, c) and T1-weighted (b) MR images showing the “cerebral inflammatory phenotype” of X-ALD with severe, symmetric demyelination of the frontal WM (a, arrow). Diverging signal intensities in (a) and contrast enhancement in (b, arrow) indicate different activity of demyelination. Symmetric involvement of the long fiber tracts is common in X-ALD (c, arrow). 1.5 T Siemens Aera (Siemens Medical Systems, Erlangen, Germany).

Mentions: A 6-year-old boy presented with hyperactive behavior, cognitive decline, and adrenal insufficiency over the last 6 months. Genetically confirmed X-ALD runs in the mother’s family, with three affected uncles (two with adrenal insufficiency, one with severe cerebral disease). Plasma levels of VLCFA were elevated at presentation (C26:0/C22:0 = 0.74; norm, 0.1–0.55). Genetic testing confirmed a mutation of the ABCD1 gene. MRI of the brain showed symmetrical signal alterations of the frontal white matter (WM) with involvement of the genu of corpus callosum, internal capsules, brainstem, and long fiber tracts, indicating severe demyelination (Loes score = 7, Fig. 1) (1). The rapid progression and dismal prognosis in our patient warranted rapid hematopoietic stem cell transplantation as the only possibly curative treatment option. As no HLA-matched donor was readily available, the parents opted for haploidentical stem cell transplantation from the unaffected father. The course of transplantation was complicated with prolonged aplasia. In addition, the boy experienced severe neurological deterioration with an inability to speak and walk. After 28 days in aplasia, primary non-engraftment had to be stated. While preparing other family members for emergency stem cell donations, the patient unfortunately died of bacterial sepsis.Fig. 1.


MRI demyelination pattern and clinical course in a child with cerebral X-linked adrenoleukodystrophy (X-ALD).

Nowak J, Löbel U, Wölfl M, Schlegel PG, Warmuth-Metz M - Acta Radiol Open (2015)

T2-weighted (a, c) and T1-weighted (b) MR images showing the “cerebral inflammatory phenotype” of X-ALD with severe, symmetric demyelination of the frontal WM (a, arrow). Diverging signal intensities in (a) and contrast enhancement in (b, arrow) indicate different activity of demyelination. Symmetric involvement of the long fiber tracts is common in X-ALD (c, arrow). 1.5 T Siemens Aera (Siemens Medical Systems, Erlangen, Germany).
© Copyright Policy - creative-commons
Related In: Results  -  Collection

License 1 - License 2 - License 3
Show All Figures
getmorefigures.php?uid=PMC4385045&req=5

fig1-2047981615573655: T2-weighted (a, c) and T1-weighted (b) MR images showing the “cerebral inflammatory phenotype” of X-ALD with severe, symmetric demyelination of the frontal WM (a, arrow). Diverging signal intensities in (a) and contrast enhancement in (b, arrow) indicate different activity of demyelination. Symmetric involvement of the long fiber tracts is common in X-ALD (c, arrow). 1.5 T Siemens Aera (Siemens Medical Systems, Erlangen, Germany).
Mentions: A 6-year-old boy presented with hyperactive behavior, cognitive decline, and adrenal insufficiency over the last 6 months. Genetically confirmed X-ALD runs in the mother’s family, with three affected uncles (two with adrenal insufficiency, one with severe cerebral disease). Plasma levels of VLCFA were elevated at presentation (C26:0/C22:0 = 0.74; norm, 0.1–0.55). Genetic testing confirmed a mutation of the ABCD1 gene. MRI of the brain showed symmetrical signal alterations of the frontal white matter (WM) with involvement of the genu of corpus callosum, internal capsules, brainstem, and long fiber tracts, indicating severe demyelination (Loes score = 7, Fig. 1) (1). The rapid progression and dismal prognosis in our patient warranted rapid hematopoietic stem cell transplantation as the only possibly curative treatment option. As no HLA-matched donor was readily available, the parents opted for haploidentical stem cell transplantation from the unaffected father. The course of transplantation was complicated with prolonged aplasia. In addition, the boy experienced severe neurological deterioration with an inability to speak and walk. After 28 days in aplasia, primary non-engraftment had to be stated. While preparing other family members for emergency stem cell donations, the patient unfortunately died of bacterial sepsis.Fig. 1.

Bottom Line: The clinical spectrum in boys with X-linked adrenoleukodystrophy (X-ALD) ranges from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination.In the individual case, the disease course still remains unpredictable.We report on MRI findings and clinical course of cerebral X-ALD in a young boy with a rare subtype of white matter demyelination.

View Article: PubMed Central - PubMed

Affiliation: Departments of Radiology and Neuroradiology, University Hospital of Würzburg, Würzburg, Germany.

ABSTRACT
The clinical spectrum in boys with X-linked adrenoleukodystrophy (X-ALD) ranges from isolated adrenocortical insufficiency and slowly progressive myelopathy to devastating cerebral demyelination. In the individual case, the disease course still remains unpredictable. Research findings suggest an important role of brain magnetic resonance imaging (MRI) lesion patterns as prognostic markers for X-ALD. Hence, familiarity with imaging features of childhood X-ALD in combination with clinical manifestation is required in order to stratify affected patients for therapy. We report on MRI findings and clinical course of cerebral X-ALD in a young boy with a rare subtype of white matter demyelination.

No MeSH data available.


Related in: MedlinePlus