Ataxia Telangiectasia MRI

MRI brain shows:
1. Moderate grade diffuse cerebellar atrophy. No associated Brainstem or cerebral cortical atrophy.
2. Multiple punctate low signal intensity foci on GRE in bilateral cerebral white matter.

Imaging diagnosis: Ataxia-telangiectasia.

Ataxia Telangiectasia 

A rare multisystem condition with autosomal recessive inheritance, incidence at around 1:40,000-300,000 live births, sometimes classified as a phakomatosis.
Characterized by multiple telangiectasias, cerebellar ataxia, pulmonary infections and immunodeficiency.

Diagnostic clue on MRI brain is diffuse cerebellar atrophy, compensatory enlargement of the fourth ventricle, micro hemorrhages secondary to capillary telangiectasia.
Main clinical features include cerebellar ataxia progressive and present in all cases, associated oculomucocutaneous telangiectasias, susceptibility to pulmonary infection due to immunodeficiency.
Genetics, results from a defective gene located on chromosome 11q22–23.
Treatment is generally supportive.

Cysts in gyrus rectus of frontal lobe

Clinical Details  : 42 yo female, sometime in May 2019 suffered from an episode of un responsivity associated with no features to suggest a seizure. There was no excessive perspiration. She however regains consciousness spontaneously after about 15 minutes. Thereafter she was well but on the 9th of August abruptly lost consciousness, had abnormal tonic posturing of the limbs, hyper salivation but no tongue bite or incontinence. SHe however had excessive profuse perspiration. 

Present clinical examination is entirely normal. 

BP 130/90

MR study of brain reveals multicystic changes clustered in the gyrus rectus of right frontal lobe.
Clinical significance is doubtful in this case.
However this is a rare finding so far reported only with tourette syndrome in literature.

Ref :
Tourette syndrome associated with unilateral cystic changes in the gyrus rectus.
McAbee GN1, Wark JE, Manning A Department of Pediatrics (Neurology), University of Medicine and Dentistry of New Jersey, Children's Regional Hospital at Cooper Hospital/University Medical Center, Camden 08103, USA.

Tumor Mimics MRI

FLAIR

T2W

DWI

T2*GRE

T1

MR SPECTROSCOPY

PERFUSION IMAGING

This MRI study of brain shows an intra axial space-occupying lesion measuring approximately 53x55mm involving left opercular parietal and adjacent insular cortex with marked focal parenchymal swelling, lesion non-enhancing on post contrast. No mid line shift or mid brain compression. No obvious cystic or necrotic component. No diffusion restriction or haemosiderin staining on GRE.

ASL 

3D arterial spin labelling (non-contrast perfusion) was performed. Cerebral blood flow (CBF) assessed in ml /100 gm / min

Findings: 

The lesion predominantly shows mixed perfusion, major portion show hypo perfusion with patchy areas of relative hyper perfusion with CBF in range of 11 ml / 100 gm / min , 160% of reference in its cranial aspect. 

PERFUSION IMAGING

Perfusion maps demonstrated with color scale used are as follows. 

CBF: cerebral blood flow; higher scale (red) means faster flow and lower scale (blue) mean less flow.

CBV: cerebral blood volume ; higher scale (red) means more volume and lower scale less volume.

MTT: mean transit time; higher scale (red) means longer time required to washout contrast and lower scale (blue) means short time early washout.

TTP: time to peak; higher scale (red) means longer TTP and lower scale (blue) means shorter TTP.

Findings:

Lesion is relatively hyper perfused. 

rCBF:          11  ml/100gm/ min   160% of reference

rCBV:        3.2   ml / 100gm tissue 482% of reference

MTT:        17; 296% of reference   

Interpretation:

Lesion show mixed perfusion, areas of hypo - iso perfusion, a focal hyper perfusion particularly left parietal sub cortical portion of lesion. 

MR SPECTROSCOPY 

Axial T2w localizer taken and multi voxel MR Spectroscopy performed. The voxel of size 2x2cm placed over the lesion. Water suppression obtained was 99% with optimum spectral waveform obtained at short as well as long TE.

Metabolites evaluated on short TE of  35ms and TR of 1500ms from right to left as follow. 

At 2.01ppm – short and wide peak of NAA. NAA is reduced.

At 3.03ppm – sharp and long peak of Creatinine. Creatinine is reduced.

At 3.2ppm – sharp and long peak of Choline. High choline.

No lipid lactate.

NAA/ Creatinine ratio is 2

Choline/ Creatinine ratio is 1.5

Interpretation: 

Lesion show high choline, reduced Creatinine. 

Summary: 

This MRI study of brain shows an intra axial lesion involving left opercular parietal and adjacent insular cortex with marked focal parenchymal swelling, sub cortical white matter oedema, non-enhancing on post contrast. No obvious cystic or necrotic component. 

No diffusion restriction or haemosiderin staining on GRE.

Lesion show high choline, reduced Creatinine on MR spectroscopy. 

Left parietal sub cortical portion of lesion is hyper perfused on ASL as well as perfusion imaging.

Imagingwise diagnosis: Glioma like Astrocytoma_ Low to Intermediate grade tumour.

But Histopathology report surprise to me.

HISTOPATHOLOGY REPORT : FOCAL CORTICAL DYSPLASIA TYPE III

Microscopic Description : 

The entirely submitted material shows surrounding odematous glial tissue. Punctate haemorrhages, fine micro cystic change, neuronal crowding, Cytomegaly neurons, Peri vascular cuffing and haemorrhages, Occasional Balloon cells. There is no granuloma. 

IHC : Ki 67 index less than 1 %

Post traumatic Neuroma MRI

A 35 old male fell from 8 feet and experienced immediate spine and both hip pain with progressively worsening back pain that radiated to right hip and right lower extremity. Sharp pain radiated from back to toes, and experienced paresthesias from right knee to toes.
On examination, antalgic gait and unable to walk, weakness of right hip flexion, knee extension, ankle dorsiflexion and ankle plantar flexion. A straight leg raise test result was positive on the right at 15°, which indicated neuronal irritation, and was negative on the left leg.

MRI WHOLE SPINE show multiple level benign post-traumatic sub chondral collapses with marrow oedema. No obvious listhesis.
Study extended with MR Neurography of lumbosacral plexus shows a well-defined ovoid mixed but near cystic signal intensity lesion on right side of spine at lumbosacral junction deep to the right psoas muscle. Lesion is ovoid has typical teardrop shape with proximal portion tapering towards neural foramina suggestive of neural/perineural origin of lesion.
Considering history of trauma possibility of post-traumatic neuroma was suggested.

Histopathology examination : Neuroma.
Microscopy shows a disorganized fibroneural tissue contained randomly oriented nerve twigs surrounded by attenuated connective tissue and different types of cells like Schwann cells, macrophages, and fibroblasts, which may extend into adjacent adipose tissue.

Final diagnosis: Post traumatic Neuroma.

Post traumatic Neuromas (PTNs) of Lumbar Plexus

PTNs may be terminal occuring in amputation stumps or when the nerve is completely transected, or they may be in-continuity. Neuromas-in-continuity comprise most nerve injuries from laceration, contusion, or stretch injury.

A peripheral nerve MR Neurography an useful technique for the preoperative diagnosis, localization, and characterization of nerve abnormalities, including PTN formation.

Neuromas present as a fusiform mass with nerve continuity, may be similar in appearance to that of neurogenic tumors, such as schwannomas and neurofibromas. Neuromas unlike neurogenic tumors may not show enhancement. Unlike neurogenic tumors, neuromas-in-continuity lack a split fat sign, which represents a rim of fat that surrounds the tumor, particularly in relation to the proximal and distal portion of the nerve best appreciated on T1-weighted images. Neuromas-in-continuity also lack a target sign, which consists of high signal intensity in the periphery and low signal intensity in the central region of the lesion on T2-weighted images. PTNs of the peripheral nerves have been reported and tend to be low to isointense on T1-weighted imaging and hyperintense on T2-weighted imaging.

Lumbosacral PTN is relatively rare. Radiologists should be aware of the imaging appearance of injury-related neuromas for appropriate diagnosis and avoid misinterpretation as true neoplasms. 

Posterior Epidural Fibrosis Arachnoiditis MRI

MRI LUMBAR SPINE WITH CONTRAST

Changes of lumbar spondylosis. Evidence of laminectomy at L4 - L5, mild disc bulge.
Diffuse homogeneously enhancing posterior epidural T2 hypo intense soft tissue at laminectomy site, clumping of nerve roots appears adherent to dura at laminectomy level. Available anteroposterior bony canal diameter is approximately 14 mm. L5 sacralisation.

Possibility of posterior epidural fibrosis with an associated arachnoiditis suggested for further clinical evaluation.

Sjogren's syndrome MRI Brain

Clinically 40 yo female, a known case of Sjogren's syndrome without any neurological or psychiatric complaints.
Stable well oriented with no signs on neurological examination.

MRI brain shows confluent T2 hyperintensity in bilateral cerebral white matter, corona radiata, external capsules, bilateral dentate nuclei.
No associated cerebral cortical atrophy.
Imaging finding can be labelled as severe changes of small vessel disease, significant for age.

Sjögren syndrome and MRI brain

Sjögren syndrome is a chronic systemic autoimmune disease affecting 2–3% of adults.
Classified as primary when occurring in isolation and as secondary when associated with another autoimmune disease.
Characterized by mononuclear infiltration and destruction of the exocrine glands, mainly the lachrymal and salivary glands, resulting in xerophthalmia and xerostomia.
Apart from the glandular features, mononuclear infiltration of visceral organs and vasculitis can give rise to extraglandular manifestations like arthralgia, pulmonary involvement, renal tubular acidosis.
Neurologic involvement in primary Sjögren syndrome particularly peripheral nervous system involvement is a well-documented feature of the syndrome in about 20–25% that commonly manifests as peripheral sensory neuropathy or mononeuritis multiplex caused by small-vessel vasculitis.

MRI brain of patients with primary Sjögren syndrome has shown multiple areas of increased signal intensity in the periventricular and subcortical white matter on FLAIR and T2-weighted images.
Important to note is this have been observed in both patients with and without CNS impairment or symptoms as in our case. Brain atrophy has been reported in a limited number of studies of patients with primary Sjögren syndrome.

Reference : https://www.ajronline.org/doi/10.2214/AJR.10.5984. 

Spinal Arachnoid Cyst MRI

MRI dorsal region shows an intra dural extramedullary well-defined lentiform shaped arachnoid cyst measuring approximately 22x8mm at D3-4 severely compressing cord from posteriorly with cord flattening.

Operated with posterior laminectomy.

Histo pathology report : Arachnoid cyst. 

Spondylodiscitis MRI

Description of findings:

At D11-12 discal and paradiscal involvement. Diffuse altered marrow signals involving vertebral bodies; diffuse low marrow signals on T1w, intermediate signals on T2w. Diffuse high signal intensity on STIR implies to marrow edema. Posterior elements are uninvolved.
Intervening intervertebral disc and end plates are destroyed with endplate erosions, reduced height of vertebral bodies due to sub chondral collapse, exaggerated anterior curvature at this level due to anterior wedging with prominent posterior corners contributing to severe canal stenosis, severe cord compression, cord oedema, bilateral neural foraminal stenosis with exiting nerve root compression in neural foramina. An associated prevertebral, anterior epidural abscess.

Impression:

At D11-12 Spondylo Discitis with pre vertebral and anterior epidural abscess, severe cord compression, cord oedema.