# February 2022

- Link: https://isnr.in/february-2022/
- Published: 2022-02-01T07:54:59+05:30
- Author: ISNR

## February 2022

**CASE HISTORY**: 21 year old young male with H/O Global developmental delay with
intellectual disability with seizure disorder and right eye retinal detachment.No
history suggestive of perinatal ischemic insult.
Preliminary clinical suspicion :
Mitochondrial vs Muscular dystrophy spectrum disorderInvestigation requested : MRI
Brain

**Case contributed by –**

•Dr. Sabha Ahmed – Senior Resident, Dept Of Neuroimaging and Interventional Radiology,
NIMHANS Bengaluru.

•Dr. Jitender Saini –Professor, Dept Of Neuroimaging and Interventional Radiology,
NIMHANS Bengaluru.

•Dr. Vikram Holla- Assistant Professor, Dept Of Neurology, NIMHANS Bengaluru.

|  | ⌊Feb22_2⌉ |  |  | 
| ⌊Feb22_4⌉ | ⌊Feb22_5⌉ | ⌊Feb22_6⌉ |  |

| [⌊15Feb_2022_1⌉](https://isnr.in/wp-content/uploads/2022/02/15Feb_2022_1.jpg) | [⌊15Feb_2022_2⌉](https://isnr.in/wp-content/uploads/2022/02/15Feb_2022_2.jpg) | [⌊15Feb_2022_3⌉](https://isnr.in/wp-content/uploads/2022/02/15Feb_2022_3.jpg) |  | 
| [⌊15Feb_2022_4⌉](https://isnr.in/wp-content/uploads/2022/02/15Feb_2022_4.jpg) | [⌊15Feb_2022_5⌉](https://isnr.in/wp-content/uploads/2022/02/15Feb_2022_5.jpg) | [⌊15Feb_2022_6⌉](https://isnr.in/wp-content/uploads/2022/02/15Feb_2022_6.jpg) |  |

Axial T2 weighted image(a) show faint cystic changes showing FLAIR inversion(b) 
within the cerebellar parenchyma(blue arrow), pontine hypoplasia with a midline 
pontine cleft with absence of bulging contour of the facial colliculus(white arrow).
Additionally phthisis bulbi of right eye observed(yellow arrow)

Axial T2 weighted sections at the level of medulla(c) show butterfly appearance 
of medulla oblongata

Axial sections of bone window(d) show undulating contour of the inner table of skull.

Sagittal T2(e) weighted sections at the level of massa intermedia show the profound
brainstem hypoplasia.

Parasagittal T2 (f)weighted sections at the level of temporal pole demonstrate polymicrogyric
contour of the frontal cortical grey matter.

## **Muscle-Eye-Brain Disease Caused by Mutations in POMGNT1**

•Genesis brought about by mutations in glycosylation of alpha-dystroglycan.

•Essentially , a “dystroglycanopathy’’ is used to describe a gamut of genetically
heterogeneous disorders that include muscle, eye, and central nervous system involvement
with a wide range of clinical severity(1)

•Manifestations range from mild limb girdle muscular dystrophy without cognitive
impairment to severe syndromes with brain, eye- namely retinal, and muscle involvement(
2)

•The medley of cortical dysplasia,  brainstem hypoplasia, white matter signal changes,
ventriculomegaly, and cerebellar cysts, may be representative of varied mutations
in other alpha-dystroglycan related genes,  however  are more common in **POMGnT1-
mutated cases **and should prompt tailored genetic investigations accordingly(3)

 •**Clinical learning **:Muscle-eye-brain disease should be suspected in hypotonic
infants presenting with generalized muscle weakness, elevated serum creatine kinase,
phenotypic eye and brain malformations.

 •**Radiology learning : Constellation of brainstem abnormalities, cortical dysplasias
andretinal changes should prompt a radiological suspicion of muscular dystrophies.**

**References**

1.Muntoni F, Torelli S, Wells DJ, Brown SC. Muscular dystrophies due to glycosylation
defects: diagnosis and therapeutic strategies. Curr Opin Neurol. 2011;24:437-442.
2.Godfrey C, Clement E, Mein R, et al. Refining genotype phenotype correlations 
in muscular dystrophies with defective glycosylation of dystroglycan. Brain. 2007;130:
2725-2735. 3.Hehr U, Uyanik G, Gross C, et al. Novel POMGnT1 mutations define broader
phenotypic spectrum of          muscle-eye-brain disease. Neurogenetics. 2007;8:
279-288. 28. Hu H, Candiello J, Zhang P, B