Dr Arun Gupta Director imaging

Dr Rakhee gupta Dr Vinayak Mittal

Dr Gaurav Dr Kiran

Dr Ritesh Mahajan

•ADACTYLY IN FETUS•PORENCEPHALIC CYST IN FETUS•SEPTO-OPTIC DYSPLASIA IN FETUS•MUSCLE HERNIA IN ADULT•FETAL REDUCTION•AGENESIS OF CORPUS CALLOSUM •FLAT FETAL FACIAL PROFILE

Porencephalic cyst

Porencephaly is a rare congenital disorder that results in cystic degeneration and encephalomalacia and the formation of porencephalic cysts. Porencephalic cysts were originally described by R Heschl in 1859 Broadest definition being a cleft or cystic cavity within the brain . Narrow definition being a focal cystic area of encephalomalacia

that communicates with the ventricular system and/or the subarachnoid space. 

The necessity of a cyst communicating with the ventricular system and / or subarachnoid space to earn the designation porencephaly is a point of contention. Porencephalic cysts can into

1. Internal (communicating with the ventricle)2. External (communicating with the subarachnoid space). PRACTICALLY :

porencephaly is taken to mean the following: a cystic lesion of the brain due to an encephaloclastic insult (e.g. intrauterine infections and ischaemia), lined by white matter, which communicates with the ventricles and/or the subarachnoid space. 

Porencephalic cyst Porencephalic cyst

Aetiology Perinatal cerebral ischaemia Trauma Infection

Antenatal intraparenchymal haemorrhage  Familial porencephaly: mutations in

the COL4A1 gene: fragile blood vessels related to haemorrhagic strokes

Porencephalic cyst

Porencephalic cyst is not lined by grey matter,It is helpful in distinguishing them from arachnoid cysts and schizencephaly. 

Porencephalic cyst

MUSCLE HERNIA

Muscle hernias  Focal defect in the muscle fascia with protrusion

of muscle through the defect. Most commonly found in the lower extremities,

Occasionally in the upper extremities May be single or multiple. The most commonly involved muscle is

the tibialis anterior. 

M HERNIA_1.avi M HERNIA_2.avi M HERNIA_6.avi

VIDEO CLIP OF MUSCLE HERNIA

Muscle hernias are Typically asymptomic Can cause cramping sensations or pain with or after

activity. May also present as a palpable mass and be referred

for imaging to evaluate for neoplasia. The mass may not be palpable when the patient is

relaxed, which is a clinical clue to the diagnosis. 

MUSCLE HERNIA

Ultrasound is the modality of choice in evaluation of suspected muscle hernia, although MRI may be ordered if there is suspicion of neoplasia. 

Light pressure examination is preferable, so as not to reduce or efface the herniation. Contraction of the involved muscle may reveal or accentuate the lesion.

The hernia is often hypoechoic to the surrounding muscle, and may assume a mushroom shape as it protrudes through and over the fascial defect (the defect is of the deep layer of the deep fascia.) It may thin or elevate the superficial layer of the deep fascia that overlies the muscle. 

MUSCLE HERNIA

SEPTO-OPTIC DYSPLASIA

Septo-optic dysplasia (SOD) is a condition characterised by Optic nerve hypoplasia  Absence of septum pellucidum  Two thirds of patients hypothalamic-pituitary dysfunction. Being part of the holoprosencephaly spectrum.

ABSENT SEPTUM PELLUCIDUM

Risk factors Maternal diabetes

Medications quinidine ingestion antiepileptics

Drug and alcohol abuseCytomegalovirus infection 

SEPTO-OPTIC DYSPLASIA

PERICALLOSAL ARTERY PRESENTHENCE SURE ABOUT PRESENCE OF CORPUS CALLOSUM .

SEPTO-OPTIC DYSPLASIA

CORONAL IMAGE WITH E/O ABSENT SEPTUM PELLUCIDUM

SELLA TURCICA AND SELLA PROPER APPRECIATED ON ATTEMPTED SAGITTAL IMAGES

Clinical presentation of septo-optic dysplasia is varied, and largely dependent of whether or not it is associated with schizencephaly (~ 50% of cases). This association is used to define two forms of the condition .

Not associated with schizencephaly visual apparatus more severely affected hypothalamic-pituitary dysfunction present in 60-80% of patients may present as hypoglycaemia in the neonatal period 

small pituitary gland with hypoplastic or absent infundibulum and ectopic posterior pituitary seen as focus of T1 high signal intensity in median eminence of hypothalamus

olfactory bulbs may be absent (Kallmann syndrome)  Associated with schizencephaly

optic apparatus less severely affected cortical anomalies: polymicrogyria, cortical dysplasia  may be etiologically different  sometimes referred to as septo-optic dysplasia plus 

SEPTO-OPTIC DYSPLASIA

FETAL REDUCTION

LUMBAR PUNCTURE NEEDLE IN PLACE IN THE AMNIOTIC CAVITY

FD 2_1.avi

VIDEO CLIP OF FETAL REDUCTION

FETAL REDUCTION POST PROCEDURE

POST REDUCTIONNO COLOR FILL IN FETAL CARDIA

REST OF THE FETUS SHOW NORMAL COLOR FILL IN FETAL CARDIA

FLAT FETAL FACE

NORMAL FACE PROFILE

•Forehead and chin on same plane . •Nasal bone should be present • Nose should project beyond plane of forehead and chin. •Top of ear at level of orbit

FLAT FACE PROFILE

FLAT FETAL FACE

FETAL ADACTYLY

The detection of a fetal hand malformation warrants a complete work-up, including complete fetal and cardiac US examinations, as well as genetic counseling to determine whether familial inquiry and karyotype analysis are necessary.

FOREARM BONES SEEN ONLY THREE RUDIMENTARYPROXIMAL METACARPALS APPRECIATED

FETAL LIMB ANOMALIES A BRIEF

MALFORMATION A morphologic defect of an organ, part of an organ, or larger region of the

body resulting from an intrinsically abnormal developmental process (eg, phocomelia, polydactyly).

DEFORMATION An abnormal shape or position of part of the body caused by mechanical

forces (eg. clubfeet).DISRUPTION

A morphologic defect of an organ, part of an organ, or a segment of the body caused by an extrinsic factor interfering with an originally normal developmental process (eg. amniotic band sequence).

Higher in upper limb.More on Rt side. Usually unilateral than bilateral.

NORMAL FETAL HAND

ADACTYLYABSENT FETAL HAND

TERMINOLOGY FOR QUICK REFERENCE

Phocomelia Arms/forearms and thighs/calves are missing or foreshortened, the hands/feet may be normal or abnormal.

Clinodactyly is a fixed deviation of the digitis. Asymmetrical hypoplasia of the mid-phalanx with the medial part being shorter than the lateral part, resulting in radial angulation of the distal phalanx .

Clenched hand Second and fifth fingers overlap the third and fourth with an adducted thumb, it is important to evaluate, on ultrasound scan, if it is a persistent or a

temporary finding. Camptodactyly

Flexion contracture of one of the interphalangeal joints. Abnormalities of length or width.

Macrodactyly Rhizomelic (short femurs or humeri), Mesomelic (short forearms or calves) Acromelic (involving the hands or the feet).

Polydactyly Presence of extra digit/s in the upper or lower extremities.

Radial side (preaxial) Ulnar side (postaxial) polydactyly.

ECTRODACTYLY: Split hand/foot deformity, also known as lobate claw hand/foot, results from the absence of the central digits/ toes with a deep V- or U-shaped central cleft.

Thumb abnormalities Thumb hypoplasia Triphalangeal thumb Broad thumb Hitchhiker thumb

Abnormally abducted position of a more proximally inserted thumb .

Agenesis of corpus callosum

Dysgenesis of the corpus callosum may be complete (agenesis) or partial and represents an in utero developmental anomaly.It can be divided into:primary agenesis: the corpus callosum never formssecondary dysgenesis: the corpus callosum forms normally and is subsequently destroyed

ANTENATAL ULTRASOUND FINDINGS third ventricle 

dilated can be elevated or dorsally displaced 8

may communicate with the interhemispheric cistern may project superiorly as a dorsal cyst choroid may be seen as echogenic structure in the roof of the cyst

lateral ventricles widely spaced parallel bodies (racing car sign) small frontal horns colpocephaly: which can give a "tear drop" configuration on axial scans

septum pellucidum: absent interhemispheric fissures: widened gyri: may be seen in a "sunray appearance" on the sagittal plane colour Doppler study may show an abnormal course of pericallosal arteries

Agenesis of corpus callosum

ventriculomegaly

Interhemispheric cyst

Color doppler Shows no color fill In region of pericallosal artery

MULTIPLANAR TOMOGRAPHIC ULTRASOUD IMAGING DONE

REFERENCE

DIAGNOSTICULTRASOUNDFOURTH EDITIONCarol M. Rumack, MD, FACRJ. William Charboneau, MD, FACRDeborah Levine, MD, FACR