Medical NEET PG AIIMSPG PGI USMLE

#case|| Solution ||Part 1

The answer to the given question is “Marfan syndrome”

⏩Basic Intro:

⏹‘Marfan syndrome’ is a genetic disorder that results in defective connective tissue, affecting nearly every body system

⏹‘Microfibrils‘ are strong ropelike structures that provide tissue integrity & form connective tissue & the main component of microfibrils is ‘Fibrillin’

⏹In addition to being part of microfibrils, fibrillin also regulates tissue growth by sequestering or removing TGF-B (Transforming growth factor beta) which stimulate tissue growth.

⏩Pathogenesis:

⏹Marfan syndrome is an Autosomal dominant Disorder caused by mutations in a gene called FBN1 on chromosome 15

⏹The FBN1 gene encodes Fibrillin-1 protein

⏹In Marfan Syndrome, Fibrillin-1 is either dysfunctional or less abundant

⏹As a result, there are fewer functioning microfibrils in the extracellular matrix, and that means there’s less tissue integrity & elasticity

⏹TGF-B doesn’t get effectively sequestered, so excessive TGF-B signalling causing more growth

⏩Clinical Features:

⏹Skeleton system:

✅Tall stature

•Long arms & legs (Marfanoid Body Habitus)

✅Arachnodactyly

•Long fingers and toes
•‘Arachnodactyly’ in reference to ‘Long Legs of Spider’

✅Overgrowth of ribs can cause:

•Pectus excavatum (Chest sinks in)
•Pectus Carinatum (Chest points out)

✅Scoliosis (Spine has sideways curve)

✅Reduced extension of elbows (

Identify the disease based on the symptoms and examination reports 🧐

The more you participate, more you learn💪

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#case 22 || Solution || Last part

@medic_altimesMT

The answer to the given question is “Berry aneurysm”

⏩Diagnosis:

✅MRI
✅CT scan
✅Angiography (Definitive Diagnosis)

⏩The determination of whether an aneurysm is ruptured is critical to diagnosis

Lumbar puncture (LP) is the gold standard technique for determining aneurysm rupture (subarachnoid hemorrhage)
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RBCs are Ruptured
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Bile pigments are formed
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Yellow coloured CSF (Xanthochromia)

⏩Note:

✅In Acute SAH, Lumbar puncture is contraindicated (As due to increased ICP, brain may herniate)

✅5-7 days later we can perform LP

⏩Treatment:

✅Surgical Clipping
✅Endovascular Coiling
✅Flow Diversion Technique
✅Cerebral Bypass surgery

Doctor will recommend the best treatment option(s),based on and tailored to your vascular anatomy, aneurysm size and location, and several other characteristics

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The answer to the given question is “Berry aneurysm”

⏩On Microscopic Examination using Verhoeff van Gieson (VVG) stain:

✅Beyond the neck of the aneurysm, the muscular wall and intimal elastic lamina are absent

✅Aneurysm sac is lined only by thickened hyalinized intima

✅The adventitia covering the sac is continuous with that of the parent artery

✅Rupture usually occurs at the apex of the sac,releasing blood into the subarachnoid space, the substance of the brain, or both

⏩The above picture shows:

✅Blue arrow shows retention of elastic fibers and Red arrow shows loss of elastic fibers (VVG stain)

✅Black arrows show Attenuation and loss of elastica at “mouth” of Berry aneurysm

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#case 22|| Solution ||Part 3
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The answer to the given question is “Berry aneurysm”

⏩Morphology:

⏹A Saccular/ Berry aneurysm is a thin-walled outpouching of an artery

(As shown in picture)

⏹It has 2 parts:

✅Neck
✅Sac

⏩Note:

•Rupture of a saccular (berry) aneurysm is most frequent cause of clinically significant non-traumatic subarachnoid hemorrhage

•Rupture usually occurs at the apex of the sac, releasing blood into the subarachnoid space, the substance of the brain, or both

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