Case presentation

Dr Nani LampungJR-1 Dept of RadiodiagnosisJNMCH AMU, Aligarh

Case

A 12 year old boy presented with weakness in right upper limb ,abnormal movements and seizures since early childhood. he had learning difficulties, cognitive impairment and global developmental delay. the boy presented with normal vision and hearing, no facial asymmetry was appreciated. No h/o of fever, cough, headache, neck rigidity

there was no clear history of apparent perinatal and antenatal complications SYSTEMIC EXAMINATIONS- WNL

Blood investigations-normalchest x ray normalCECT Head advised

CECT FINDINGSShows prominent cortical sulci and gyri overlying convexity of left cerebral hemispheres with evidence of volume loss with prominent ipsilateral lateral ventricle & pulling of lateral ventricles to ipsilateral side s/o ? hemicerebral atrophyB/L cerebellar hemispheres & brainstem appear normalB/L basal ganglia & thalami appear normalSellar & suprasellar regions appear normalBONE WINDOW : shows mild calvarial thickening of left side

DIFFERENTIAL DIAGNOSIS

1. DDMS2. RASMUSSEN ENCEPHALITIS3. STURGE WEBER SYNDROME4. HEMIMEGAENCEPHALY

DykE-DAvIDOFF-mASON SyNDROmE(DDmS)

Cerebral hemiatrophy

characterised by :Thickening of skull vault(compensatory)Enlargement of PNSElevation of petrous ridgeIpsilateral falcine displacementCapillary malformations

ETIOLOGy

Underlying etiology- cerebral infarctPrenatal- congenital anomalies, vascular malformation, infectionsNatal- birth trauma, hypoxia, I/C bleedPost natal- secondary to cerebral trauma, tx, infections, febrile seizures

CLINICAL PRESENTATION

Seizures Facial assymmetry Contralateral hemiparesis Mental retardation

ImAGING FINDINGS

General features :The affected hemisphere demonstrates diffuse volume loss with encephalomalacia and gliosisLeft sided hemiatrophy-more common (70%)

CT FINDINGS

NECT :atrophic hemisphere with enlarged sulci and dilatation of the I/L ventricleSuperior sagittal sinus & interhemispheric fissure are often displaced across the midlineBONE WINDOW :variable degrees of calvarial thickening,elevation of the sphenoid wing & petrous temporal bone with expanded sinuses & mastoids

mRI FINDINGS

T1WI shows hemispheric volume loss with prominent sulci and cisterns

T2/FLAIR- demonstrate encephalomalacia with shrunken hyperintense gyri & subcortical WM I/L cerebral peduncle is usually smallAtrophy of the C/L cerebellum is common secondary to crossed cerebellar diaschisisDDMS neither enhances on T1 C+ nor demonstrates restricted diffusion

Figure 1 :(A) Axial T2-weighted image: Left cerebral hemiatrophy, ipsilateral occipital horn dilatation, ipsilateral midline shift, hypoplasia of thalamus, caudate nucleus, and lentiform nucleus are demonstrated. In addition,ipsilateral pneumosinus dilatans (frontal) is seenFigure 1B: Axial T2-weighted image: Hypoplasia of left cerebral peduncleFigure 1C: Axial T1-weighted image: Left cerebral hemiatrophy with calvarial thickening. Hypointensity in white matter represents gliosis

POINTS

AgeC/F- seizure, hemiparesisImaging :HemiatrophyProminent ventriclesThickened calvaria

no involvement of pns No displacement of

SSS & IHF

IN FAVOUR AGAINST

RASmUSSEN ENCEPHALITIS‘chronic focal encephalitis’Rare progressive encephalitis characterised by drug-resistant epilepsy, progressive hemiparesis & mental impairmentInvolvement –focal encephalomalacia typically in the medial temporal lobe & around the sylvian fissure

ETIOLOGY

Exact unknown Chronic inflammation of brain with T-cell infiltration of the

tissue (mostly only one cerebral hemisphere affected ) Permanent damage to the cells leading to atrophy Possible etiologies- viral infections/autoimmune disease

involving glutamate receptors with glutamine toxicity Biopsy findings are nonspecific,with leptomeningeal &

perivascular lymphocytic infiltrates, microglial nodules, neuronal loss and gliosis

CLInICaL fEaTurEs

Clinically normal until seizures begin14 mnths to 14 yrs ( peak-3-6 yrs)Two main stages- 1. Acute stage 2.Chronic stage

Acute stage- (4 to 8 months) Inflammation is active and the symptoms become progressively worse Seizures – focal motor seizures( epilepsia partialis continua)hemiparesis, hemianopia & cognitive difficulties( learning memory or language)Neurological deficits are progressive, and the seizure become often medically refractory

Chronic or residual stageinflammation is no longer activeEpilepsy , paralysis or cognitive problems

TrEaTMEnTAcute stage- Aim is to reduce the inflammationRx- steroidsIV IG –effective in both short & long term

Chronic/residual stage Aim -improving the remaining symptomsAntiepilepticsRefractory cases- hemispherectomy

IMaGInG fIndInGs

Initially normalMRI- T2/FLAIR hyperintensity develops in cortex & subcortical white matter with evidence of volume loss of the affected hemisphere basal ganglia atrophy is seen in majority of the casesMRS findings are non specific with decreased NAA & CHO.myoinositol may be mildly elevated

Brain MRI of an 8 year old female with Rasmussen's encephalitis.A. December 2008, the patient was presented with headache and epilepsia partialis continua. There are lesions with local brain swelling in the right parietal and occipital lobes and right cerebellar hemisphere.B. April 2009, the same patient, now she is comatose with epilepsia partialis continua. There is progression of the encephalitis - the left cerebral hemisphere has been involved with severe brain swelling and shift of the midline structures.

Points

AgeC/FImaging : hemiatrophy

Normal Basal ganglia calvarial changes No focal

encephalomalacia

IN FAVOUR AGAINST

sTurGE wEbEr sYndrOMENeurocutaneous syndromeUnlike most phakomatosis it is sporadicEncephalotrigeminal angiomatosis

Hallmarks- Capillary malformation of the skin( port wine mark) in the distribution of the trigeminal nerveRetinal choroidal angioma(+/- glaucoma) andA cerebral capillary-venous leptomeningeal angioma

paThOLOGYThe leptomeningeal hemangioma results in the vascular steal affecting the subjacent cortex & white matter producing localised ischaemiaMost common location in is the parietooccipital region f/b frontal & temporal lobes Unilateral in 80% cases& is typically Ipsilateral to the the facial angioma ASSOCIATIONS1. COA

2.paragangliomas

Epidemiology- rare 1 case in 40000-50000 LBNo gender predilection

CLInICaL prEsEnTaTIOnCongenital facial cutaneous hemangioma (port wine stain/facial naevus flammeus)U/L in 63% or B/L – 31%Usually involves (V1) ophthalmic division of trigeminal nerveIn majority (72%) the naevus is unilateral & ipsilateral to the intracranial abnormalityMC clinical manifestation- seizure ( 1st yr 75 to 90%) medically refractory and worsen with time

hemiparesis & migraine like headaches Approx 1/3rd of the patients have choroidal or

scleral angiomatous involvement Complicated with retinal detachment, buphthalmos

or glaucoma Most are mentally retarded

radIOGraphIC fEaTurEs

X-RAY- gyriform calcification of the subcortical white matter (Tram-track appearance)finding usually become evident between 2 & 7 yrs of age

CT fIndInGs

NCCTDystropic cortical/subcortical calcification( hall mark)Cortical calcifications, atrophy and enlargement of the I/L choroid plexus are typical findings in older children and adults with SWSBONE CT- thickening of diploe & enlargement with hyperpneumatisation of the I/L frontal sinuses secondary to longstanding volume loss in the underlying brain

CECT Dense cortical calcifications may obscure

enhancement of the pial angioma on CECT however enlarged enhancing choroid plexus can

usually be identified

MrI fIndInGs

T1WI-Signal of affected region largely normal, with anatomic volume loss evident at older age

T1 C+(gd)Prominent leptomeningeal enhancement in affected areaFLAIR scan may demonstrate serpentine hyperintensities in the sulci, ‘ ivy sign’

Post contrast T1WI OR FLAIR sequences best demonstrate pial angioma

Serpentine enhancement covers the underlying gyri, extending deep into the sulci & sometimes almost filling the SA space

The I/L choroid plexus is almost always enlarged & enhances intensely

T2WI: low signal in white matter subjacent to angioma representingPostulated accelerated myelination in neonateCalcification in later lifeAbnormal deep venous drainage seen as flow voids

MR SPECTROSCOPY- Decreased NAA

DSA

In most cases (82%) angiography is abnormal & demonstrates absent superficial cortical veins with abnormal and enlarged deep venous drainage

TreaTmenT and prognosis

Primary –seizure control Surgical resection in refractory cases Ophthalmological examination is also essential

to identify & treat ocular involvement

Points

AgeC/FImaging :HemiatrophyThickening of calvaria

No cutaneous lesionsNo MRImaging :no cortical or SC calcificationsNormal I/L choroid plexusNo involvement of frontal sinuses

IN FAVOUR AGAINST

hemimegalencephaly

Rare congenital disorder of cortical formation with hamartomatous overgrowth all or a part of a cerebral hemisphere

Results from either increased proliferation or decreased apoptosis(or both) of developing neurons

Abnormal mTOR signaling may play a role

epidemiology Rare represent less than 5 % of MCDs Cryptogenic congenital d/o does not have a

recognised racial or gender predilection

classificaTion

Classified into 3 forms1.Isolated2.Syndromic: Epidermal nevus syndromeKlippel trenaunay syndromeMccune-Albright syndromeProteus syndromeRare- NF1 & TS

3. Total hemimegalencephaly: hypertrophy also involves the brainstem & cerebellum

clinical presenTaTion

Usually presents in infancyMacrocrania, developmental delay & seizuresMajority(90%) present with focal or generalised infantile spasmsExtracranial hemihypertrophy of part or all of the iplsilateral body may be present

imaging findings

GENERAL FEATURESHMEG is characterised by enlarged, dysplastic-appearing hemisphere with abnormal gyration, thickened cortex,& white matter abnormalitiesLateral ventricles enlarged & deformedIn rare cases- dyplastic changes involves only a part of hemisphere(focal/localised/lobar HMEG)

cT findings

NECT shows enlarged hemisphere and hemicranium Posterior falx often appears displaced across the

midline Abnormal white matter myelination may increase in

attenuation, making the C/L normal WM appear unusually hypodense

Dystrophic calcification may be seen Abnormal, uncondensed primitive appearing

superficial veins over regions of severely dysplastic cortex

mri findingsT1WIOften Cortex appears thickened “lumpy-bumpy” on T1 scansNeuronal heterotopias are commonI/L ventricle is usually enlarged and deformedIn severe cases almost no normal hemispheric architecture can be discerned

T2WI – shows areas of patchy & polymicrogyria with indistinct borders between gray & white matterWhite matter signal intensity on T2/FLAIR is often heterogenous with cysts and gliosis-like hyperintensity

Figure 1: NCCT of head (a) Axial shows diffuse enlargement of left cerebral hemisphere (*) with midline shift towards right while the right hemisphere is normal.

Non-contrast magnetic resonance imaging T2W (b) Images (axial) show diffuse gyral thickening (thin arrow) in the left cerebrum causing midline shift and scalloping of inner table (arrow head) of left calvarium. White matter in both cerebral hemispheres show normal myelination. Linear hyperintensities involving the subcortical U fibers of left fronto-parietal region seen on fluid attenuation inversion recovery image (c) Post-gadolinium T1W image in axial plane (d) shows no abnormal enhancement

TreaTmenT and prognosis

Rx Targeted to control epilepsy In refractory cases –Hemispherectomy

Points

C/F- seizure/develpmt delay Imaging :assymetry in b/l hemisphereProminent ventricles

Age (infancy)No extracranial hemihypertrophyImaging :No abnormal enlargement of hemisphere seen

IN FAVOUR AGAINST

diagnosis

DDMS

THANK YOU….