# June 2021

- Link: https://isnr.in/june-2021/
- Published: 2021-06-06T19:13:35+05:30
- Author: ISNR

## June 2021

••A 29 year old male presented with first episode of left focal seizures.

**Case contributed by –**

Dept of Neuroimaging and Interventional Neuroradiology, AIIMS, New Delhi

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Axial NCCT image of the brain shows calcifications involving bilateral basal ganglia
and thalami. Axial T1 and T2-w images show hyperintense basal ganglia and thalami,
with corresponding areas showing blooming in axial SWI, consistent with calcifications(
black arrows). Right parietal lobe shows a focal area of hyperintense signal involving
both grey and white matter in axial T2-w image, which shows hyperintense and hypointense
signals in DWI and ADC map respectively, suggestive of diffusion restriction and
consistent with acute infarct (white arrows).

**Final Diagnosis**: FABRY’S DISEASE

 * Pointers helping to arrive at a differential diagnosis in this case are:
    - Young
    - Male
    - First presentation is seizure (indicating that basal ganglia / thalami classifications
      are largely asymptomatic)
    - Symmetric basal ganglia and thalami (pulvinar) classifications
    - Ischemic infarct

 * Three differential diagnosis that includes most of the pointers listed above 
   are
    - Fabry’s disease
    - Mitochondrial myopathies with prototype being MELAS
    - SLE with intracranial manifestations (CNS lupus)

 * Fabry’s disease
    - Fabry’s disease is a lysosomal storage disorder, due to mutation coding for
      hydrolase α-galactosidase A. Since the disease is transmitted as X linked 
      recessive disorder, it is expressed in its classical form in males. Females
      are usually heterozygous for the disease (One normal X, and one mutated X 
      chromosome) and present with variable severity. (1)
    - T1 pulvinar hyperintensity and calcifications are specific findings (which
      are usually asymptomatic) and usually present with acute ischemic strokes.
      Dolichoectasia of vertebrobasilar system is also a commonly associated finding.

 * MELAS and other mitochondrial myopathies
    - MELAS may present with basal ganglia calcifications and infarct, and present
      with seizures. However it would not be the first presentation. Usually they
      present with infarcts in parieto-occipital lobes not limited to vascular territory
      in the first presentation, and only in older patients basal ganglia / thalamus
      calcifications are usually seen (presumably due to multiple infarcts over 
      time and secondary dystrophic calcifications)
    - MERRF usually have no stroke or stroke like episodes, but when present considered
      as MERRF/MELAS overlap.

 * CNS lupus
    - CNS manifestations of SLE are variable. Dense symmetric calcifications of 
      basal ganglia & thalami, and infarcts are both reported (2), and they can 
      co-exist in 7.4% of patients. Raymond et al also noted that calcifications
      did not correlate with severity of the disease (hence may be asymptomatic).

Although this pattern of (asymptomatic and symmetric) calcifications is seen in 
metabolic disorders including hyperparathyroidism, hypoparathyroidism, Fahr’s disease(
including SLC20A2, XPR1, PDGFB, PDGFRB mutations), infarcts are uncommon thus ruling
out these disorders.

Mineralizing microangiopathy may present with basal ganglia calcifications and infarcts.
However, the calcifications are usually not dense (as in our case), calcifications
spare thalamus, and infarcts are limited to basal ganglia, as the main pathology
is usually limited to lenticulostriate arteries. (3)

[[

50 year female with SLE (4)

[[

MELAS (5)

## References

 1. Olivier Lidove et al. Imaging Features of Fabry Disease. American Journal of Roentgenology.
    2006;186: 1184-1191. 10.2214/AJR.05.0019
 2. Raymond AA, Zariah AA, Samad SA, Chin CN, Kong NC. Brain calcification in patients
    with cerebral lupus. Lupus. 1996 Apr;5(2):123-8. doi: 10.1177/096120339600500207.
    PMID: 8743125.
 3. Shanley DJ. Mineralizing microangiopathy: CT and MRI. Neuroradiology. 1995;37 (
    4): 331-3.
 4. Magnetic Resonance of Myelination and Myelin Disorders, M.S.van der Knaap,J.Valk,
    3^(rd) edition, Springer.
 5. Symmetrical and bilateral basal ganglia calcification. Case series and literature
    review. October 2018G. aceta medica de Mexico 154(2) DOI: 10.24875/GMM.M18000137