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NEURORADIOLOGY Table of Contents   
Year : 2005  |  Volume : 15  |  Issue : 3  |  Page : 321-323
Adrenoleukodystrophy- Images


4, Nanduprasad Mahadevia society, Near Sanghvi High School, Vijaynagar, Naranpura, Ahmedabad-380013, India

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Keywords: Adrenoleukodystrophy - MRI

How to cite this article:
Turakhia S, Agrawal A. Adrenoleukodystrophy- Images. Indian J Radiol Imaging 2005;15:321-3

How to cite this URL:
Turakhia S, Agrawal A. Adrenoleukodystrophy- Images. Indian J Radiol Imaging [serial online] 2005 [cited 2020 Jul 14];15:321-3. Available from: http://www.ijri.org/text.asp?2005/15/3/321/29145

   Introduction Top


The term adrenoleukodystrophy includes heterogeneous group of heredofamilial diseases characterized by metabolic defects principally affecting CNS myelin sheath. ALD is rare, genetic disorder characterized by breakdown of myelin sheath of normal cells in brain and progressive dysfunction of adrenal gland. ALD is caused by deficiency of enzyme acyl-Co-A synthatase, which is transmitted as an X-linked recessive gene and is therefore almost exclusively confined to males, although few sporadic cases in females do occur.

3 ages of presentation:

1) Childhood form- (4-10 years) - Classic presentation and most severe.

2) Adult onset form- (21-35 years)- Milder form.

3) Neonatal form- Both males and females affected. Quickly progressive


   Case report Top


An 8-year-old male child presented with bilateral blurring of vision since 15 days, bilateral hearing impairment since 15 days and low-grade fever for 1 day. It was associated with on-n-off headache since 1 month. No history of vomiting, convulsion or trauma was noted. On clinical examination, patient was confused, was having terminal neck rigidity and positive Kerning's and Rhomberg's signs. On CSF examination, increased protein and decreased sugar was noted. On CSF protein analysis, major spike of albumin was noted. Flash Visual Evoked Response was suggestive of bilateral demyelinating optic neuropathy.

Axial, coronal and sagittal plane MRI was performed taking T1WI, T2WI, FLAIR sequences and contrast study. Hypointensity was seen in bilateral parieto-occipital periventricular region and splenium of corpus callosum on T1WI [Figure - 1][Figure - 6], which appear hyperintense on T2WI [Figure - 2] and is not suppressed on FLAIR images[Figure - 3]. On contrast study there is minimal peripheral enhancement [Figure - 4]. There was also hyperintensity was noted along corticopontine tracts on T2WI suggestive of demyelination [Figure - 5]


   Discussion Top


Classical X-linked Adrenoleukodystrophy is seen exclusively in males as a result of mutation of ALD gene, which is mapped to chromosome Xq28, and codes for peroxisomal membrane protein (2).

Peroxisomes are small intracellular organelles that are involved in oxidation of very long chain and monosaturated fatty acids [5]. Biochemically- accumulation of very long chain fatty acid (VLCFA) that become incorporated into myelin which leads to instability and dysmyelination with possible direct cytotoxic effect on oligodendrocytes.

Adrenoleukodytrophy-adrenomyeloneuropathy complex is a group of 3 closely related peroxisomal disorders: as following

1) ALD-Adrenoleukodystrophy

2) AMN-Adrenomyeloneuropathy

3) ALMN-Adrenoleukomyeloneuropathy

Typical X-linked ALD usually presents in males of age 5-10 years old with gradual disturbances in gait and slight intellectual impairment. There is usually rapid progression with hypotension, seizures, visual complaints and difficulty in swallowing appearing with time. Abnormal skin pigmentation and other signs and symptoms of adrenal insufficiency may become apparent before CNS symptoms. In some cases adrenal symptoms will never appear [2].

On pathological findings, white matter is gray and firm with atrophy and cystic cavitations while cerebral cortex and gray matter are of normal thickness.

There are confluent areas of demyelination in symmetric fashion, usually in bilateral occipital regions with extension across splenium of corpus callosum. Usually occipital, parietal and temporal lobes are more severely affected than frontal lobe. 3 zones are visualized-
" Central portion-, which show absent myelin sheath and oligodendroglia. Glial stranding with no evidence of active disease.
" Next zone is of active inflammation.
" Outer zone shows active myelin breakdown but no inflammatory changes. [3]

Imaging findings are usually very typical of ALD. On Plain CT scan large symmetric regions of low attenuation are seen within parieto-occipital regions. Contrast enhanced images may demonstrate peripheral enhancement of an advancing rim [2],[8],(9). On MRI usually characteristic findings are present. On Plain MRI bilateral symmetrical parieto-occipital white matter is involved which is hypointense on T1WI and hyperintense on T2WI and FLAIR images. Involvement of corpus callosum is very frequent. In one study, published in AJNR Vol 18, Issue 1, medullary and pontine corticospinal tract involvement was present in eight out of ten patients with ALD. So, pontomedullary corticospinal tract involvement is a common finding in ALD and is unusual in other leukodystrophy [6].

On post contrast study lateral margins of the zones of demyelination show contrast enhancement corresponding to areas of active demyelination accompanied by inflammation (Schumberg's zones 1 and 2). Ventricular and sulcul enlargement may be seen because of atrophy. Less commonly bilateral frontal white matter may be involved [4]. Genu of corpus callosum and frontopontine tracts are often involved. Predominantly anterior white matter form may also demonstrate less severe posterior cerebral involvement. Demyelination can be seen in lateral laminisci when there is involvement of more distal auditory pathways in ALD. Dysmyelination of greater forceps in lateral geniculate bodies of thalamus may be noted [1].

Other form of this disorder is AMN. This form of disorder typically presents in young adults (mean age 28 years) with either progressive paraparesis or progressive cerebellar dysfunction. This affects predominantly peripheral nervous system characterized by adrenal insufficiency, hypogonadism, spastic paraparesis and distal polyneuropathy. It less commonly involves cerebrum and more cerebellar white matter, brainstem and corticospinal tract than childhood form of ALD (2). Sometimes, MR brain may be normal in AMN with neurologic involvement is confined to spinal cord and peripheral nerves.

 
   References Top

1.William G. Bradley, Jr., chapter 20; Brainstem: Anatomy and Pathology, in MRI David D. Stark and William G. Bradley, Jr. P 629  Back to cited text no. 1    
2.Roslind D. Dietrich, chapter 32- Myelination and dysmyelination- Adrenolukody-strophy in MRI David D. Stark and William G. Bradley, Jr. P-1075  Back to cited text no. 2    
3.Annette O. Naubaum, Kar- Ming Fing and Scott W. Atlas chapter 13- White Matter disorders and Inherited metabolic disorders - P-535 in MRI of Brain and Spine - Scott W. Atlas  Back to cited text no. 3    
4.John B. Weigere and Robert A. Zimmerman chapter-14 White matter diseases-Adrenoleukodystrophy P-622 in Cranial MRI and CT- S. Howard Lee and Krishna C.V.G. Rao  Back to cited text no. 4    
5.A. James Barkowich- chapter -3 - Toxic and Metabolic Brain Disorders-Classical X-linked Adrenoleukodystrophy -Adrenomyeloneuropathy P-77 In Paediatric Neuroimaging, A. James Barkowich.  Back to cited text no. 5    
6.Anne G. Osborn- chapter 17- Inherited Metabolic white matter and Degenerative diseases of the Brain P- 725 in Anne Osborn  Back to cited text no. 6    
7.A J Barkowich, D M Ferriero, N Bass and R Boyer, Involvement of pontomedullary corticospinal tracts: a useful finding in the diagnosis of X-linked adrenoleukodystrophy - AJNR, Vol. 18, Issue 1, P- 95-100  Back to cited text no. 7    
8.Mike Rubin, Adrenal Leukodystrophy in Radiology Resident case of the week : Jan 26, 1996.  Back to cited text no. 8    

Top
Correspondence Address:
S Turakhia
4, Nanduprasad Mahadevia society, Near Sanghvi High School, Vijaynagar, Naranpura, Ahmedabad-380013
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-3026.29145

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    Figures

[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6]

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[Pubmed]



 

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