HEREDITARY MULTIPLE EXOSTOSIS

The above pictures are of a 6 year old boy who presented with painless lumps in many sites of the body.

Upon X-Ray evaluation it was confirmed to be a case of Hereditary Multiple Exostosis

DISCUSSION :

Definition

Developmental osseous anomaly resulting in exophytic outgrowth on surface of bone

Radiography Findings:

0 Cartilage covered bony projection (exostosis) on external surface of bone

Calcification of hyaline cartilage cap

o Pedunculated type: slender pedicle directed away from joint.

Lesion grows at right angles to long axis of host bone

o Sessile type: Broad-based attachment to cortex

o Undertubulation of long bones (Erlenmeyer flask deformity)

o When to suspect Malignant Degeneration :

Clinical: 30 years of age ; Pelvis, Shoulder affected ; Multiple in number ;

Increasing pain and mass at the site of known osteochondroma

Radiologic : Development of thick, bulky, cartilaginous cap ( thickness > 2cm-adults; > 3 cms-children)

Dispersed calcifications within cartilaginous cap

Bone destruction

Development of soft tissue mass

Altered appearance on sequential studies

Clinical Features

Most common signs/symptoms: Usually painless mass, present for many years

Painful with impingement on nerves/blood vessels

Bursa can form over cap

Pain in absence of fracture, nerve compression, or bursitis considered malignant until proven otherwise

Benign lesion with self-limited growth

Malignant transformation: 1-2% of solitary lesions

Malignant transformation of MHE: 3-5%

Differential Diagnoses

Parosteal Osteosarcoma

Periosteal Chondroma

Chondrosarcoma

Juxtacortical Myositis Ossificans

Subungual Exostosis

Treatment

Surgical resection of symptomatic lesions

Marginal excision including cartilaginous cap and overlying perichondrium

Cartilaginous cap should not be traumatized during resection

Osseous base has minimal activity and may be removed piecemeal

TRAUMATIC SUBARACHNOID HEMORRHAGE - A CASE STUDY

In the above case which had come to our department with a history of head injury we can observe the hyperdensity of blood density in the subarachnoid spaces within the cisterns, interhemispheric fissure and also along the tentorium cerebelli. These findings are typical of Subarachnoid hemorrhage with some amount of subdural component.

DISCUSSION

Definitions

Blood within subarachnoid spaces between pial & arachnoid membranes

Best imaging tool: CT Scan

NECT Findings :

High density in subarachnoid space(s)/cisterns

Hyperdense blood in interpeduncular cistern

Top Differential Diagnoses

• Non-traumatic SAH (ntSAH)

• Meningitis

• Carcinomatosis

• High inspired oxygen

Clinical Presentation :

• Most common signs/symptoms: Headache, emesis, ~consciousness

• Clinical profile: Trauma is most common cause of SAH, not ruptured aneurysm

• Amount of tSAH on initial CT correlates with delayed ischemia, poor outcome

• Requires supportive therapy

Treatment

• Requires supportive therapy

o Intubation, supplemental oxygen, IV fluids, therapy of altered vital signs

o Sedatives & medications for pain, nausea, & vomiting as needed

o Anticonvulsants for seizures

• Nimodipine, a calcium channel blocker, may prevent vasospasm & its complications

SCHIZENCEPHALY - Two cases

Definition :

Schizencephaly is defined as a congenital brain malformation characterized by clefts extending from pial surface of cerebral mantle to ventricle and are lined by polymicrogyric cortex

CASE 1 :

In this case we can see a hypodense area showing CSF density in right occipital region communicating with ipsilateral lateral ventricle limited by falx cerebri and lined by grey matter suggestive of open lip schizencephaly.

If you carefully see further mild outpouching of CSF noted from posterior end of occipital horn of left lateral ventriclewhich is suggestive of - closed lip schizencephaly…..though we’ve to do MRI evaluation to confirm it.

CASE 2 :

In this second case we can see a large CSF filled cleft is noted extending from the pial surface of the frontotemporoparietal lobes to the ependymal surface of frontal and temporal horns of bilateral lateral ventricles suggestive of bilateral open lip schizencephaly

Septum pellucidum appears absent.

Hypogenesis of bilateral frontal and temporal lobes with decreased sulcation.

Discussion

TYPES :

Type I (closed-lip): Fused pial-ependymal seam lined by gray matter forms "furrow" in cortex

Type II (open-lip): Large, gray matter lined, fluid-filled cerebrospinal fluid clefts

Clinical Issues

Type I: May be near normal or have congenital hemiparesis and seizures

Type II: Mental retardation, spasticity, seizures, severely compromised

Location : Usually involving insula adjoining pre/postcentral gyri - Bilateral or unilateral full surface clefts of cortical mantle. Gyri and sulci radiate into cleft or furrow, aiding differentiation from late intra-uterine or early postnatal MCA infarction. Deformity of ventricle at site of closed-lip Schizencephaly "points" to cleft

CT Findings

NECT : Relatively dense gray matter lines CSF clefts

CECT : Large, primitive appearing veins near cleft +/- Hydrocephalus (especially open-lip Schizencephaly with ruptured membrane)

Natural History & Prognosis

Malformation is stable, development of epilepsy is common.

Size and magnitude of clefts, as well as number of associated malformative lesions, govern severity of motor deficits, developmental delays, and epilepsies.

Single closed-lip defects may be asymptomatic or diagnosed in adult

Top Differential Diagnoses

"Clastic schizencephaly"

Porencephaly

Hydranencephaly

Hydranencephaly - a rare congenital brain malformation

Hydranencephaly is a rare brain malformation in which there is near total absence of

cerebral hemispheres. The child may appear normal at birth but usually has a large

head. The diagnosis is established by CT or MRI and there is no known treatment.

In this case we can see that CSF attenuation fills supratentorial cranial vault with intact falx cerebri and thinned out brain parenchyma around the falx with absent/ indetectable brain parenchyma around bilateral lateral cranial vault. Thin line of cortical mantle noted in bilateral temporal and inferior frontal lobe region.

The thalamus appears to be intact though the remaining deep white matter could not be seen. Posterior fossa appears to be intact and remnants of cerebral cortex in the frontal lobe could be made out.

Discussion :

Hydranencephaly is In-utero cerebral hemispheric destruction with preservation of thalamus, brainstem (BS), cerebellum

The term is taken from "hydrocephalus" + "anencephaly"

Hydrancephaly is one of the rare but devastating congenital malformations of the brain consisting of nearly complete absence of both cerebral hemispheres.The exact aetiology of the

abnormality is still unknown but is believed to be a significant vascular insult in the territories

of both internal carotid arteries after the fourth month of gestation, so that the portion of the

brain supplied by the anterior and middle cerebral arteries is replaced by cerebrospinal fluid. The patient has a normal cerebellum and brainstem supplied by the vertebrobasilar system. The cranium is intact and there is a well formed and somewhat thickened sac consisting of an outer leptomeningeal layer and rudimentary representation of cortex.

CT Imaging findings are :

o CSF attenuation fills supratentorial cranial vault

o Falx cerebri partially/completely intact, basal ganglia separated

Differential Diagnoses for this condition are :

Severe hydrocephalus

Alobar holoprosencephaly

Severe bilateral schizencephaly

Cystic encephalomalacia

Sickle Cell Disease

Sickle cell anemia (SCA) is a hemolytic anemia characterized by abnormally shaped (sickled) red

blood cells (RBCs), a point mutation in the gene coding the β chain of the hemoglobin

molecule resulted in a single amino acid substitution (valine for glutamic acid) in the β globin

chain.

History : A 22 yr old man presented with pain in the hip joint and difficulty in walking.

On detailed evaluation, Painful priapism was there. Childhood history of dactylitis was there.

The case was referred to the Radiology Department as a case of Tubercular arthritis of the hip.

MRI evaluation revealed :

Avascular necrosis of bilateral femoral heads – Early (Stage Ia) on right side and End (Stage VI) on the left side.

Bilateral joint effusion (Left>right) with multiple loose bodies and features of synovitis in the left hip joint.

Features of medullary infarcts in bilateral femurs.

Upon further evaluation (X-Ray and USG correlation ) :

Features of bone infarcts and absent spleen were noted. Gall stones (which are a common association was also seen).

Old sequelae of dactylitis was noted in both the hands.

Upon suspicion, further lab tests were done, which showed HB-SS disease and Sickle Cell Anemia was confirmed.

My first Blog

Hi guys...this is my first blog....
Will be adding many things related to radiology so that other postgraduate students can gain from this blog.
Hoping this would help some people.