Niemann–Pick disease

Niemann–Pick Disease
• Definition
• Classification
• Pathophysiology
• Clinical Features
• Diagnosis
• Treatment

Definition: Niemann–Pick disease is a rare inherited lysosomal storage disorder caused by defects in lipid metabolism. It leads to the accumulation of sphingomyelin or cholesterol within lysosomes of various cells, especially in the liver, spleen, lungs, bone marrow, and brain. It is usually inherited in an autosomal recessive manner.

Classification: Niemann–Pick disease is divided into several types:

Type A (Infantile Neurovisceral)
• Cause: Deficiency of acid sphingomyelinase (ASM).
• Onset: Infancy.
• Features: Severe hepatosplenomegaly, failure to thrive, progressive neurodegeneration, cherry-red spot in macula (like in Tay–Sachs).
• Prognosis: Fatal, usually by 2–3 years of age.

Type B (Chronic Visceral)
• Cause: Partial ASM deficiency.
• Onset: Childhood/adolescence.
• Features: Hepatosplenomegaly, interstitial lung disease, normal or near-normal neurologic function.
• Prognosis: Many survive into adulthood.

Type C (Cholesterol Trafficking Defect)
• Cause: Mutation in NPC1 or NPC2 gene → impaired intracellular cholesterol transport.
• Onset: Variable (infancy to adulthood).
• Features: Hepatosplenomegaly, progressive neurodegeneration, vertical supranuclear gaze palsy (classic finding), ataxia, dystonia, dysarthria, psychiatric symptoms.
• Prognosis: Progressive, often fatal in childhood or adolescence, but later-onset cases survive longer.

Type D
• A variant of type C, described in the Nova Scotia population.

Pathophysiology:
• Type A & B: Accumulation of sphingomyelin due to acid sphingomyelinase deficiency.
• Type C/D: Accumulation of unesterified cholesterol & glycolipids due to defective intracellular trafficking.
• Characteristic finding: Foam cells (lipid-laden macrophages).

Clinical Features:
• Hepatosplenomegaly
• Pulmonary involvement (interstitial disease, recurrent infections)
• Neurological impairment (especially in type A & C)
• Failure to thrive
• Cherry-red macula spot (type A & some type C cases)

Diagnosis:
• Enzyme assay (ASM activity for types A & B)
• Genetic testing (NPC1, NPC2 mutations)
• Filipin staining of cultured fibroblasts (cholesterol storage, for type C)
• Bone marrow: Foam cells, sea-blue histiocytes
• Imaging: Organomegaly, lung infiltrates, cerebral atrophy

Treatment:
• Supportive care (nutrition, respiratory support, seizure control)
• Enzyme replacement therapy (ERT): Under research for ASM deficiency
• Substrate reduction therapy: Miglustat approved for type C
• Hematopoietic stem cell transplantation: Limited benefit
• Prognosis varies with type (worst in type A, better in type B, variable in type C)

Hepatomegaly sonography

Definition: Hepatomegaly refers to an abnormal enlargement of the liver beyond its normal size. It is usually assessed clinically by palpation and percussion, and confirmed by imaging (e.g., ultrasound, CT, MRI). On ultrasound, hepatomegaly is diagnosed when the liver span exceeds the normal reference values (generally >150 mm (for adult) in the midclavicular line in adults), though normal ranges vary with age, sex, and body habitus.

Sonographical features: 1. Liver size enlarged Right lobe size > 150 mm in midclavicular line. Left lobe may extend well across midline into epigastrium.Inferior tip of right lobe seen well below the lower pole of right kidney. 2. Altered liver margins & contour Inferior margin of right lobe becomes rounded (normally sharp/pointed). Inferior margin of right lobe becomes rounded (normally sharp/pointed). 3. Parenchymal echotexture (depends on etiology): Homogeneous enlargement → e.g., early congestion, acute hepatitis. Coarse / heterogeneous echotexture → chronic liver disease, infiltration, cirrhosis. Increased echogenicity → fatty infiltration. Hypoechoic / heterogeneous → acute hepatitis, lymphoma, infiltration. 4. Vascular landmarks displaced Diaphragm pushed superiorly. Portal/hepatic veins appear elongated due to enlargement. Associated findings Splenomegaly (portal hypertension, storage disorders). Ascites (cirrhosis, right heart failure).Focal lesions (if cause is tumor, abscess, hydatid cyst).

Ultrasound report line (Findings):Liver is enlarged in size with rounded inferior margin. Parenchymal echotexture is homogeneous with normal echogenicity. No focal lesion is identified. Intrahepatic biliary radicles are not dilated. Portal vein and hepatic veins are patent with normal flow.
Conclusion: Hepatomegaly
Recommendation: Clinical correlation is required

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Symptoms:
General / Constitutional

• Fatigue
• Malaise
• Weight loss (chronic conditions)
• Fever (if infectious cause)

Abdominal Symptoms

• Right upper quadrant (RUQ) fullness or discomfort
• Sensation of abdominal distension / bloating
• Dull ache in upper abdomen (due to stretching of liver capsule)
• Pain in severe enlargement or with rapid stretching

Associated Clinical Signs (depending on cause)

• Jaundice – yellowing of skin/eyes (hepatitis, cirrhosis, obstruction)
• Nausea / vomiting / loss of appetite
• Pruritus (itching) – cholestatic disease
• Ascites (fluid in abdomen) – advanced CLD or cirrhosis
• Splenomegaly – in portal hypertension, hematologic disorders
• Peripheral edema – in cirrhosis or heart failure
• Spider angiomas, palmar erythema – chronic liver disease
• Confusion / altered mental status – hepatic encephalopathy (advanced cases)

Causes of Hepatomegaly:
1. Infective / Inflammatory

• Acute viral hepatitis (HAV, HBV, HCV, etc.)
• Chronic hepatitis
• Liver abscess (pyogenic, amoebic)
• Granulomatous infections (tuberculosis, schistosomiasis, candidiasis)

2. Metabolic / Infiltrative

• Non-alcoholic fatty liver disease (NAFLD)
• Alcoholic fatty liver
• Glycogen storage disorders
• Hemochromatosis (iron overload)
• Wilson’s disease (copper accumulation)
• Amyloidosis
• Storage disorders (Gaucher’s, Niemann–Pick)

3. Vascular / Congestive

• Congestive heart failure
• Constrictive pericarditis
• Budd–Chiari syndrome (hepatic vein outflow obstruction)
• Veno-occlusive disease
• Portal hypertension with passive congestion

4. Neoplastic

• Primary liver tumors (Hepatocellular carcinoma, Hemangioma, Adenoma)
• Metastatic deposits (commonest malignant cause)
• Lymphoma / Leukemia with hepatic infiltration

5. Miscellaneous

• Polycystic liver disease
• Cirrhosis (compensated stages with enlarged liver)
• Infiltrative diseases (sarcoidosis)

Diagnostic Strategy for Hepatomegaly:
Diagnostic Strategy for Hepatomegaly
1. History & Clinical Examination

• Onset, duration, associated symptoms (pain, fever, jaundice, weight loss)
• Risk factors: alcohol, viral hepatitis exposure, metabolic disease, heart disease, family history
• Examine for stigmata of chronic liver disease, splenomegaly, ascites, lymphadenopathy

2. Laboratory Evaluation

• Liver function tests (LFTs): AST, ALT, ALP, bilirubin, albumin, INR
• Serology: Viral hepatitis markers (HBsAg, anti-HCV, etc.)
• Metabolic tests: Iron studies (hemochromatosis), ceruloplasmin (Wilson’s), α-1 antitrypsin, lipid profile
• Autoimmune markers: ANA, SMA, AMA if autoimmune hepatitis or cholestatic disorders suspected

3. Imaging Studies

• Ultrasound (first-line): Assess size, echotexture, focal lesions, vascularity, biliary system, associated findings (splenomegaly, ascites)
• Doppler: Evaluate portal vein, hepatic vein, IVC, hepatic artery flow
• CT/MRI: Characterization of lesions, vascular anomalies, diffuse disease, staging of neoplasm
• Elastography: Assess fibrosis / cirrhosis

4. Specific Investigations (based on suspicion)

• Liver biopsy: If diagnosis remains uncertain (unexplained hepatomegaly, suspected infiltration, storage disorders)
• Echocardiography: If cardiac cause suspected (right heart failure, constrictive pericarditis)
• Endoscopy: If portal hypertension suspected (esophageal varices)

5. Synthesis & Correlation

• Integrate clinical, lab, and imaging features to classify hepatomegaly as:
• Acute: infections, congestion, acute hepatitis
• Chronic: fibrosis, cirrhosis, storage/metabolic diseases
• Focal: neoplastic, cystic, abscesses

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Note: If you select English, answer all questions in English.
यदि आप हिंदी चुनते हैं, तो सभी प्रश्न हिंदी में हल करें।

1. Which is the most common sonographic feature of hepatomegaly? 1. हेपाटोमेगाली का सबसे सामान्य सोनोग्राफिक लक्षण कौन सा है?
A. Reduced liver size / यकृत का आकार छोटा होना
B. Enlarged liver span on MCL / MCL पर यकृत का बढ़ा हुआ आकार
C. Atrophic left lobe / बायां लोब छोटा होना
D. Absent liver margins / यकृत की सीमा न दिखना

2. Normal adult liver span on ultrasound along the midclavicular line is approximately: 2. अल्ट्रासाउंड पर वयस्क में मिडक्लेविकुलर लाइन के साथ सामान्य यकृत का आकार लगभग कितना होता है?
A. 5–7 cm
B. 10–12 cm
C. 13–15 cm
D. 20–22 cm

3. Which echotexture pattern is typically seen in hepatomegaly due to fatty liver? 3. फैटी लिवर के कारण हेपाटोमेगाली में आमतौर पर कौन सा इकोटेक्सचर पैटर्न देखा जाता है?
A. Hypoechoic parenchyma
B. Increased echogenicity with posterior attenuation
C. Isoechoic parenchyma
D. Target-like nodules

4. Which condition commonly shows hepatomegaly with multiple cysts in ultrasound? 4. कौन सी स्थिति में अल्ट्रासाउंड पर कई सिस्ट के साथ हेपाटोमेगाली आमतौर पर दिखाई देती है?
A. Cirrhosis
B. Polycystic liver disease (PCLD)
C. Viral hepatitis
D. Hemangioma

5. Hepatomegaly with coarse echotexture and irregular margins suggests: 5. हेपाटोमेगाली के साथ मोटा इकोटेक्सचर और अनियमित सीमाएं किसकी ओर संकेत करती हैं?
A. Acute hepatitis
B. Cirrhosis / Chronic liver disease
C. Simple cyst
D. Normal variant

6. Which Doppler finding may be seen in hepatomegaly due to congestive hepatopathy? 6. कंजेस्टिव हेपाटोपैथी के कारण हेपाटोमेगाली में कौन सी डॉप्लर खोज देखी जा सकती है?
A. Increased arterial resistance
B. Reversal of portal vein flow
C. Dilated hepatic veins with loss of phasicity
D. Absent hepatic artery flow

7. Hepatomegaly with multiple small hypoechoic nodules (< 2 mm) is typical of: 7. कई छोटे हाइपोइकोइक नोड्यूल (< 2 मिमी) के साथ हेपाटोमेगाली किसमें विशिष्ट होती है?
A. Fatty liver
B. Hepatic tuberculosis (miliary form)
C. Metastases
D. Hemangioma

8. Hepatomegaly with homogeneous echotexture and no focal lesions is most consistent with: 8. समान इकोटेक्सचर और कोई फोकल लक्षण न होने पर हेपाटोमेगाली किसके साथ सबसे अधिक मेल खाती है?
A. Acute hepatitis
B. Fatty liver
C. Simple hepatomegaly without focal lesion
D. Cirrhosis

9. In hepatomegaly due to lymphoma, the liver usually appears: 9. लिंफोमा के कारण हेपाटोमेगाली में यकृत आमतौर पर कैसा दिखता है?
A. Hyperechoic with posterior attenuation
B. Diffusely hypoechoic with enlarged size
C. Isoechoic with calcifications
D. Multicystic with septations

10. Which of the following is NOT a sonographic feature of hepatomegaly? 10. निम्नलिखित में से कौन सा हेपाटोमेगाली का सोनोग्राफिक लक्षण नहीं है?
A. Enlarged liver span on ultrasound
B. Smooth capsule with homogeneous texture
C. Reduction of liver span below normal
D. Associated splenomegaly in portal hypertension

Abbreviations for carotid doppler

General Doppler Terms
PSV – Peak Systolic Velocity
EDV – End Diastolic Velocity
RI – Resistive Index
PI – Pulsatility Index
TAMV – Time-Averaged Mean Velocity
ICA/CCA Ratio – Internal Carotid Artery to Common Carotid Artery PSV Ratio

Arteries
CCA – Common Carotid Artery
ICA – Internal Carotid Artery
ECA – External Carotid Artery
VA – Vertebral Artery
SCA – Subclavian Artery
CBT – Carotid Body Tumor

Veins
IJV – Internal Jugular Vein
SCV – Subclavian Vein
BCV – Brachiocephalic Vein

Pathology / Other
AVM – Arteriovenous Malformation
FMD – Fibromuscular Dysplasia
OCC – Occlusion
STEN – Stenosis
ANR – Aneurysm
PSAN – Pseudoaneurysm
DIS – Dissection

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Pathology / Other
AVM – Arteriovenous Malformation: Congenital or acquired abnormal communication between an artery and a vein, bypassing the capillary bed. On Doppler, shows multiple tortuous channels with color aliasing, arterialized venous flow, and low resistance waveforms.

FMD – Fibromuscular Dysplasia: Non-atherosclerotic, non-inflammatory vascular disease causing abnormal growth in arterial walls. Classically involves the distal ICA, producing a “string-of-beads” appearance with alternating stenoses and dilatations. More common in young females.

OCC – Occlusion: Complete obstruction of an artery by thrombus, plaque, or dissection flap. Ultrasound shows echogenic intraluminal material, absent color flow, and no detectable Doppler signals distal to the occlusion.

STEN – Stenosis: Hemodynamically significant narrowing of the arterial lumen, often due to atherosclerotic plaque. Doppler shows elevated peak systolic velocity (PSV), spectral broadening, post-stenotic turbulence, and aliasing in color Doppler.

ANR – Aneurysm: True focal dilatation of an artery involving all three wall layers (intima, media, adventitia). May present as fusiform or saccular. On ultrasound, appears as a localized dilated segment with swirling flow or mural thrombus.

PSAN – Pseudoaneurysm: False aneurysm where blood escapes through an arterial wall defect but is contained by the adventitia or surrounding tissue. Characterized by a “yin–yang” flow pattern on color Doppler and a to-and-fro waveform at the neck.

DIS – Dissection: Separation of the arterial wall layers due to an intimal tear, forming a true and false lumen. On ultrasound, an intimal flap may be seen with differential flow patterns in each lumen; can lead to stenosis, occlusion, or aneurysm formation.

Fetal Ventriculomegaly

The atrium of the lateral ventricle (measured at the level of the glomus of the choroid plexus, across the atria) is normally <10 mm. Ventriculomegaly is diagnosed when the atrial diameter is ≥10 mm.

Classification (based on atrial width)

• Mild (borderline): 10–12 mm
• Moderate: 13–15 mm
• Severe: >15 mm (sometimes called hydrocephalus when progressive and associated with increased head size/intracranial pressure)

Severe Ventriculomegaly

Figer

Ultrasound report line (Findings):Each Lateral ventricles are markedly dilated measuring >15 mm at the atrial level, with ballooning of the ventricular atria, consistent with severe ventriculomegaly.
Right atria:15.0 mm
Left atria:17.5 mm
Conclusion: Severe Ventriculomegaly
Recommendation: Detailed fetal neurosonography and anomaly scan to assess associated CNS and extra-CNS anomalies.
Consider fetal MRI for further evaluation of brain parenchyma and associated anomalies.
Recommend counseling and evaluation for possible chromosomal, genetic, or TORCH infectious etiologies.

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Etiology / Causes
Ventriculomegaly can be isolated or associated with other abnormalities:

1. Obstructive causes
   • Aqueductal stenosis
   • Neural tube defects (spina bifida, encephalocele)
   • Masses (tumors, hemorrhage, arachnoid cyst)
2. Non-obstructive causes
   • Chromosomal abnormalities (e.g., Trisomy 21, 18, 13)
   • Congenital infections (CMV, toxoplasmosis, Zika virus)
   • Cortical malformations (agenesis of corpus callosum, holoprosencephaly, lissencephaly)
   • Brain atrophy from ischemic/hemorrhagic injury

Sonographic Features

• Lateral ventricle atrium >10 mm, measured in axial plane at level of thalami and cavum septi pellucidi.
• Dangling choroid plexus sign (choroid plexus appears to “hang” within enlarged ventricle).
• Assess for associated findings:
  • Intracranial anomalies (corpus callosum agenesis, Dandy–Walker malformation)
  • Extracranial anomalies
  • Fetal growth restriction
  • Signs of infection (calcifications, microcephaly)

Prognosis

• Isolated mild ventriculomegaly (10–12 mm): ~80–90% have normal neurodevelopmental outcome.
• Moderate (13–15 mm): Outcome depends on progression and associated anomalies; ~60–70% normal if isolated.
• Severe (>15 mm): High risk of neurodevelopmental impairment, motor/cognitive deficits, or death.

Evaluation / Work-up

• Detailed fetal neurosonography (evaluate for structural CNS malformations).
• Fetal MRI (to assess cortical and midline structures).
• Genetic testing (amniocentesis with karyotype and microarray).
• TORCH screening for intrauterine infections.
• Serial ultrasounds to monitor progression.

Evaluation / Work-up

• Detailed fetal neurosonography (evaluate for structural CNS malformations).
• Fetal MRI (to assess cortical and midline structures).
• Genetic testing (amniocentesis with karyotype and microarray).
• TORCH screening for intrauterine infections.
• Serial ultrasounds to monitor progression.

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Note: If you select English, answer all questions in English.
यदि आप हिंदी चुनते हैं, तो सभी प्रश्न हिंदी में हल करें।

1. Ventriculomegaly in the fetus is defined when the atrial width of the lateral ventricle is: 1. भ्रूण में वेंट्रिकुलोमेगाली को तब परिभाषित किया जाता है जब लोइर वेंट्रिकल के एट्रियल चौड़ाई कितनी होती है?
A. < 5 mm
B. 5–9 mm
C. ≥ 10 mm
D. ≥ 20 mm

2. Which measurement plane is recommended for atrial width? 2. एट्रियल चौड़ाई मापने के लिए किस विमान की सिफारिश की जाती है?
A. Transventricular plane at the level of the atria (thalamic plane)
B. Coronal plane through the cerebellum
C. Sagittal midline
D. Any axial plane is fine

3. Mild ventriculomegaly is commonly defined as: 3. हल्की वेंट्रिकुलोमेगाली को सामान्यतः किस रूप में परिभाषित किया जाता है?
A. 10–12 mm
B. 13–15 mm
C. 16–19 mm
D. ≥ 20 mm

4. Which of the following is a commonly recommended next step when isolated mild ventriculomegaly (10–12 mm) is detected? 4. जब अलग-थलग हल्की वेंट्रिकुलोमेगाली (10–12 मिमी) पाई जाती है तो आमतौर पर अगला कदम क्या सुझाया जाता है?
A. Immediate fetal surgery
B. Offer detailed anatomic scan + fetal MRI + maternal TORCH/infection testing and targeted genetic testing
C. No follow-up required
D. Terminate pregnancy immediately

5. Bilateral ventriculomegaly is considered more concerning than unilateral because: 5. द्विपक्षीय वेंट्रिकुलोमेगाली एकतरफा की तुलना में अधिक चिंताजनक मानी जाती है क्योंकि:
A. It is more likely associated with chromosomal or structural anomalies
B. Unilateral always means benign
C. Bilateral ventricles are easier to measure
D. It rules out infection

6. Severe ventriculomegaly is commonly defined as an atrial width of: 6. गंभीर वेंट्रिकुलोमेगाली को सामान्यतः किस एट्रियल चौड़ाई के रूप में परिभाषित किया जाता है?
A. 10–12 mm
B. 13–15 mm
C. >= 15 mm
D. < 10 mm

7. Which associated finding increases the risk of an adverse neurodevelopmental outcome? 7. कौन सी सह-संबंधित खोज प्रतिकूल नयूरोविकासात्मक परिणाम के जोखिम को बढ़ाती है?
A. Isolated mild ventriculomegaly with normal other anatomy
B. Ventriculomegaly with additional CNS anomalies or chromosomal abnormality
C. Stable ventricular size on follow-up
D. Normal fetal MRI

8. Best caliper placement for atrial measurement is: 8. एट्रियल माप के लिए सर्वश्रेष्ठ कैलीपर प्लेसमेंट क्या है?
A. Inner-to-inner wall of atrium at level of the glomus of choroid plexus
B. Outer-to-outer wall through frontal horn
C. Diagonal across the third ventricle
D. From skull to skull (biparietal)

9. Fetal MRI is particularly useful because it: 9. भ्रूण MRI विशेष रूप से उपयोगी है क्योंकि यह:
A. Replaces ultrasound for routine screening
B. Better evaluates associated cortical, posterior fossa or migrational abnormalities
C. Measures ventricular width more accurately than ultrasound in all cases
D. Is not recommended in ventriculomegaly evaluation

10. The most important parental counseling point when isolated mild ventriculomegaly is confirmed and detailed workup is normal is: 10. जब अलग-थलग हल्की वेंट्रिकुलोमेगाली की पुष्टि हो जाए और विस्तृत परीक्षण सामान्य हों तो माता-पिता को सबसे महत्वपूर्ण परामर्श क्या है?
A. Guarantee of normal neurodevelopment
B. Explain generally favorable prognosis but discuss residual risk and offer follow-up and postnatal assessment
C. Immediate referral for termination
D. No follow-up needed ever

Biometry Calculator

GA – Weeks + Days (0–6) Scan Date

Patient Name Age Patient ID Referrer Facility

Origin LMP GA LMP GA EDD (AUA) EDD (LMP) Page

B Mode Measurements

Parameter	AUA	Value	m1	m2	m3	Method	AGE	Range

2D Calculations

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Skull Shape

Fetal Skull Shape during TIFA

Definition: Evaluation of the contour and proportions of the fetal skull in axial, sagittal, and coronal planes during the anomaly scan (TIFA).

Normal Shape: The fetal skull typically appears oval and symmetrical with smooth, regular outlines. The biparietal diameter and head circumference are used for biometric assessment.

Abnormal Variants:

• Dolichocephaly: Elongated skull, often due to breech position or oligohydramnios.

• Brachycephaly: Shortened, widened skull, may be seen in chromosomal abnormalities (e.g., trisomy 21).

• Lemon-shaped skull: Indentation of frontal bones, associated with open neural tube defects (spina bifida).

• Cloverleaf skull: Trilobed appearance, linked with skeletal dysplasias.

• Strawberry-shaped skull: Flattened occiput with pointed frontal bones, sometimes associated with trisomy 18.

Clinical Relevance: Skull shape assessment aids in detecting craniosynostosis, chromosomal anomalies, and neural tube defects.

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Note: If you select English, answer all questions in English.
यदि आप हिंदी चुनते हैं, तो सभी प्रश्न हिंदी में हल करें।

1. What is the normal shape of the fetal skull in ultrasound? 1. अल्ट्रासाउंड में भ्रूण की खोपड़ी का सामान्य आकार क्या होता है?
A. Oval / अंडाकार
B. Square / चौकोर
C. Round / गोल
D. Triangular / त्रिकोणीय

2. Which abnormal skull shape is associated with dolichocephaly? 2. कौन सा असामान्य खोपड़ी आकार डॉलीकोसेफली से जुड़ा है?
A. Long and narrow / लंबा और संकरा
B. Short and broad / छोटा और चौड़ा
C. Triangular / त्रिकोणीय
D. Lemon-shaped / नींबू के आकार का

3. Brachycephaly refers to which skull shape? 3. ब्रेकीसेफली किस खोपड़ी आकार को संदर्भित करता है?
A. Long and narrow / लंबा और संकरा
B. Short and broad / छोटा और चौड़ा
C. Triangular / त्रिकोणीय
D. Pear-shaped / नाशपाती के आकार का

4. Lemon-shaped skull is most commonly associated with? 4. नींबू के आकार की खोपड़ी सबसे अधिक किससे संबंधित है?
A. Neural tube defects / न्यूरल ट्यूब दोष
B. Hydrocephalus / हाइड्रोसेफेलस
C. Craniosynostosis / क्रेनियोसिनोस्टोसिस
D. Holoprosencephaly / होलोप्रोसेंसफैली

5. Cloverleaf skull is a feature of? 5. क्लोवरलीफ खोपड़ी किसकी विशेषता है?
A. Thanatophoric dysplasia / थानाटोफोरिक डिस्प्लेसिया
B. Anencephaly / एनेन्सेफली
C. Microcephaly / माइक्रोसेफली
D. Hydrocephalus / हाइड्रोसेफेलस

6. Which condition is associated with strawberry-shaped skull? 6. स्ट्रॉबेरी के आकार की खोपड़ी किस स्थिति से जुड़ी होती है?
A. Trisomy 18 / ट्रिसॉमी 18
B. Trisomy 21 / ट्रिसॉमी 21
C. Hydrocephalus / हाइड्रोसेफेलस
D. Craniosynostosis / क्रेनियोसिनोस्टोसिस

7. Which measurement is used to quantify skull shape? 7. खोपड़ी का आकार मापने के लिए किस माप का उपयोग किया जाता है?
A. Cephalic Index (CI) / सेफेलिक इंडेक्स
B. Fronto-Occipital Index (FOI) / फ्रोंटो-ऑक्सिपिटल इंडेक्स
C. CSP diameter / सीएसपी व्यास
D. AFI / एएफआई

8. Which skull shape is commonly seen in oligohydramnios with neural tube defects? 8. ओलिगोहाइड्राम्नियोस के साथ न्यूरल ट्यूब दोष में आमतौर पर कौन सा खोपड़ी आकार देखा जाता है?
A. Lemon-shaped / नींबू आकार
B. Cloverleaf / क्लोवरलीफ
C. Strawberry / स्ट्रॉबेरी आकार
D. Pear-shaped / नाशपाती आकार

9. Abnormal skull shapes can be detected best in which ultrasound plane? 9. असामान्य खोपड़ी आकार किस अल्ट्रासाउंड प्लेन में सबसे अच्छा पता लगाया जा सकता है?
A. Coronal plane / कोरोनल प्लेन
B. Axial plane / अक्षीय प्लेन
C. Sagittal plane / सैजिटल प्लेन
D. 3D reconstruction / 3डी रिकंस्ट्रक्शन

10. Which of the following is NOT a recognized abnormal skull shape? 10. निम्नलिखित में से कौन सा एक मान्यता प्राप्त असामान्य खोपड़ी आकार नहीं है?
A. Lemon-shaped / नींबू आकार
B. Strawberry-shaped / स्ट्रॉबेरी आकार
C. Cloverleaf / क्लोवरलीफ
D. Hexagonal / षट्भुजाकार

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Cephalic Index (CI)

Definition: (BPD ÷ OFD) × 100.

Interpretation: CI >85 → Brachycephaly; CI <70 → Dolichocephaly.

Clinical Use: Helps interpret HC and BPD in the context of head shape anomalies.

Gestational Age (Weeks)	Normal CI Range (%)	Interpretation
14–16	72–84	Within normal limits
17–20	71–85	Within normal limits
21–24	70–86	Within normal limits
25–28	70–85	Within normal limits
29–32	70–85	Within normal limits
33–36	70–85	Within normal limits
37–40	70–85	Within normal limits

Note: Minor variations exist across populations and machines. Always interpret CI alongside BPD, OFD, HC, and clinical context.

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Note: If you select English, answer all questions in English.
यदि आप हिंदी चुनते हैं, तो सभी प्रश्न हिंदी में हल करें।

1. What does the Cephalic Index (CI) measure? 1. सेफेलिक इंडेक्स (CI) क्या मापता है?
A. Ratio of OFD to FL
B. Ratio of BPD to HC
C. Ratio of BPD to OFD × 100
D. Ratio of AC to HC

2. Which formula is correct for Cephalic Index (CI)? 2. सेफेलिक इंडेक्स (CI) का सही सूत्र कौन सा है?
A. (HC / AC) × 100
B. (BPD / OFD) × 100
C. (OFD / BPD) × 100
D. (BPD / FL) × 100

3. What is the normal range of Cephalic Index (CI)? 3. सेफेलिक इंडेक्स (CI) की सामान्य सीमा क्या है?
A. 50–60%
B. 70–85%
C. 90–100%
D. 100–120%

4. A CI greater than 85% suggests? 4. 85% से अधिक CI क्या दर्शाता है?
A. Dolichocephaly
B. Brachycephaly
C. Microcephaly
D. Normal head shape

5. A CI less than 70% suggests? 5. 70% से कम CI क्या दर्शाता है?
A. Brachycephaly
B. Dolichocephaly
C. Hydrocephalus
D. Normal

6. CI is mainly calculated using which fetal measurements? 6. CI मुख्य रूप से किस भ्रूण माप का उपयोग करके गणना किया जाता है?
A. BPD & OFD
B. AC & FL
C. HC & FL
D. FL & CRL

7. What type of head shape is indicated by brachycephaly? 7. ब्रेकीसेफली किस प्रकार के सिर के आकार को दर्शाता है?
A. Long and narrow head
B. Short and broad head
C. Small head
D. Normal head

8. Which fetal condition may cause abnormal Cephalic Index? 8. कौन सी भ्रूण स्थिति असामान्य CI का कारण बन सकती है?
A. Oligohydramnios
B. Breech presentation
C. Multiple pregnancy
D. All of the above

9. Why is CI clinically important? 9. CI नैदानिक रूप से क्यों महत्वपूर्ण है?
A. To assess fetal growth
B. To identify abnormal head shapes
C. To diagnose placenta previa
D. To measure amniotic fluid

10. CI is most useful in which trimester? 10. CI किस त्रैमास में सबसे उपयोगी है?
A. First trimester
B. Second trimester
C. Third trimester
D. At birth

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Cephalic Index (CI) Calculator

BPD (mm): OFD (mm):

Cavum Septum Pellucidum (CSP)

Definition: Small, fluid-filled midline structure anterior to the thalami.

Plane: Same as BPD.

Clinical Use: Presence confirms normal midline development; absence may indicate holoprosencephaly or agenesis of corpus callosum.

Gestational Age (Weeks)	Normal CSP Width (mm)
18	2.0 – 4.0
19	2.2 – 4.5
20	2.5 – 5.0
21	2.7 – 5.5
22	3.0 – 6.0
23	3.2 – 6.2
24	3.5 – 6.5
25	3.7 – 6.8
26	4.0 – 7.0
27	4.2 – 7.2
28	4.5 – 7.5
29	4.7 – 7.8
30	5.0 – 8.0
31	5.2 – 8.2
32	5.5 – 8.5
33	5.7 – 8.8
34	6.0 – 9.0
35	6.2 – 9.2
36	6.5 – 9.5
37	6.7 – 9.7
38	7.0 – 10.0
39	7.0 – 10.0
40	7.0 – 10.0

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Note: If you select English, answer all questions in English.
यदि आप हिंदी चुनते हैं, तो सभी प्रश्न हिंदी में हल करें।

1. What is the Cavum Septum Pellucidum (CSP)? 1. कैवम सेप्टम पेल्यूसिडम (CSP) क्या है?
A. A midline brain cavity between the frontal horns of lateral ventricles / एक मध्य रेखा मस्तिष्क गुहा जो लेटरल वेंट्रिकल्स के फ्रंटल हॉर्न्स के बीच होती है
B. A vascular structure in the cerebellum
C. A fissure in the occipital lobe
D. A gland near the pituitary

2. At what gestational age is the CSP normally visualized on ultrasound? 2. अल्ट्रासाउंड पर CSP सामान्यतः किस गर्भकालीन आयु में दिखाई देती है?
A. 6–8 weeks
B. 18–37 weeks
C. After 40 weeks
D. Only after birth

3. Absence of CSP is commonly associated with which condition? 3. CSP की अनुपस्थिति किस स्थिति से सामान्यतः जुड़ी होती है?
A. Holoprosencephaly
B. Dandy-Walker Malformation
C. Spina bifida
D. Hydronephrosis

4. Which plane is best to visualize the CSP on ultrasound? 4. अल्ट्रासाउंड पर CSP देखने के लिए कौन-सा प्लेन सबसे अच्छा है?
A. Axial plane through the thalami / थैलेमस से होकर जाने वाला अक्षीय प्लेन
B. Coronal orbital plane
C. Sagittal midline plane
D. Transverse abdominal plane

5. What does CSP non-visualization after 18 weeks suggest? 5. 18 सप्ताह के बाद CSP का न दिखना क्या दर्शाता है?
A. Normal variation
B. Possible midline brain anomaly / संभावित मिडलाइन मस्तिष्क असामान्यता
C. Fetal growth restriction only
D. Maternal infection

6. CSP lies anterior to which structure? 6. CSP किस संरचना के सामने स्थित होती है?
A. Thalami / थैलेमस
B. Cerebellum
C. Brainstem
D. Occipital horn

7. Which sonographic sign confirms normal CSP? 7. कौन-सा सोनोग्राफिक चिन्ह सामान्य CSP की पुष्टि करता है?
A. "Box-like" anechoic structure between frontal horns / फ्रंटल हॉर्न्स के बीच "बॉक्स-नुमा" एनइकोइक संरचना
B. Hyperechoic linear band
C. Round cystic mass
D. Thickened falx

8. Which condition is NOT typically associated with absent CSP? 8. कौन-सी स्थिति सामान्यतः CSP की अनुपस्थिति से जुड़ी नहीं होती?
A. Septo-optic dysplasia
B. Holoprosencephaly
C. Agenesis of corpus callosum
D. Simple renal cyst

9. The CSP normally closes after which period? 9. CSP सामान्यतः किस अवधि के बाद बंद हो जाती है?
A. Neonatal period
B. Childhood
C. Puberty
D. Never closes

10. Why is CSP important in fetal neurosonography? 10. भ्रूण न्यूरोसोनोग्राफी में CSP क्यों महत्वपूर्ण है?
A. Marker of normal midline brain development / सामान्य मिडलाइन मस्तिष्क विकास का सूचक
B. Assesses fetal heart rate
C. Evaluates amniotic fluid
D. Detects skeletal anomalies

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Fronto-Occipital Index (FOI)

Definition: Ratio of the occipitofrontal diameter (OFD) to the biparietal diameter (BPD), expressed as a percentage.

Plane: Axial plane of the fetal head at the level of the thalami and cavum septi pellucidi, ensuring symmetric hemispheres and visualization of midline falx.

Calculation: FOI = (OFD / BPD) × 100

Normal Range: Typically 70–85%. - FOI < 70% → Suggests brachycephaly. - FOI > 85% → Suggests dolichocephaly.

Clinical Use: Assesses skull shape and head molding; useful in differentiating abnormal skull configurations which may affect BPD reliability in gestational age estimation.

Normal Range: 70% – 85%

Gestational Age (Weeks)	Expected FOI (%)	Interpretation
14	70 – 85	Normal
16	70 – 85	Normal
18	70 – 85	Normal
20	70 – 85	Normal
22	70 – 85	Normal
24	70 – 85	Normal
26	70 – 85	Normal
28	70 – 85	Normal
30	70 – 85	Normal
32	70 – 85	Normal
34	70 – 85	Normal
36	70 – 85	Normal
38	70 – 85	Normal
40	70 – 85	Normal

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Note: If you select English, answer all questions in English.
यदि आप हिंदी चुनते हैं, तो सभी प्रश्न हिंदी में हल करें।

1. What does FOI stand for in fetal ultrasound? 1. भ्रूण अल्ट्रासाउंड में FOI का क्या अर्थ है?
A. Fetal Orbital Index
B. Fronto-Occipital Index
C. Fetal Ossification Index
D. Frontal Orientation Index

2. What is the formula of FOI? 2. FOI का सूत्र क्या है?
A. (BPD / OFD) × 100
B. (OFD / BPD) × 100
C. (HC / AC) × 100
D. (FL / BPD) × 100

3. Which parameters are used to calculate FOI? 3. FOI की गणना के लिए किन पैरामीटरों का उपयोग किया जाता है?
A. HC and AC
B. FL and AC
C. BPD and OFD
D. CRL and FHR

4. What does an abnormal FOI value suggest? 4. असामान्य FOI मान किसकी ओर संकेत करता है?
A. Cranial shape abnormality
B. Placental insufficiency
C. Polyhydramnios
D. Cardiac malformation

5. FOI is commonly used to assess which condition? 5. FOI का सामान्यत: किस स्थिति के मूल्यांकन के लिए उपयोग किया जाता है?
A. Hydrocephalus
B. Craniosynostosis
C. Cephalic index variations
D. All of the above

6. Which imaging plane is required for measuring BPD and OFD? 6. BPD और OFD मापने के लिए किस इमेजिंग प्लेन की आवश्यकता होती है?
A. Coronal plane
B. Axial plane
C. Sagittal plane
D. Oblique plane

7. A normal FOI range is approximately: 7. FOI का सामान्य मान लगभग कितना होता है?
A. 60–70
B. 70–85
C. 85–95
D. 95–110

8. If FOI is significantly increased, it may indicate: 8. यदि FOI काफी बढ़ा हुआ है, तो यह किस ओर संकेत करता है?
A. Dolichocephaly
B. Brachycephaly
C. Hydrocephalus
D. Normal skull

9. FOI values lower than normal usually indicate: 9. सामान्य से कम FOI मान आमतौर पर किस ओर संकेत करता है?
A. Dolichocephaly
B. Brachycephaly
C. Plagiocephaly
D. Hydrocephalus

10. Which fetal biometric index is closely related to FOI? 10. कौन सा भ्रूण बायोमेट्रिक इंडेक्स FOI से निकटता से संबंधित है?
A. Cephalic Index (CI)
B. HC/AC ratio
C. FL/AC ratio
D. Ponderal Index

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Fronto-Occipital Index (FOI)

OFD (mm)

BPD (mm)

FOI = —

Formula: FOI = (OFD / BPD) × 100   |   Normal: 70–85%