Rare Cases
Dravet Syndrome
● Background:
• A rare and severe epileptic encephalopathy that first manifests in infancy is called Dravet Syndrome (DS).
• Genetics: SCN1A gene mutations affect about 80% of people.
• Features include neurologic impairment, developmental retardat
Phlegmonous gastritis
◉ Patient: man, 19, previously in good health
◉ Symptoms include: • Inability to tolerate PO intake, persistent vomiting, severe epigastric discomfort that goes away with vomiting, and weight loss of 15 pounds
◉ Initial Work-up:
• Multiple regimens of empi
CUTANEOUS CROHN'S DISEASE
🔹 Definition:
# Cutaneous Crohn's disease is an uncommon extra-intestinal form of Crohn's disease in which the skin becomes inflamed with granules.
# It may happen:
• Contiguously (direct extension from intestinal illness, such as enterocutaneous fistulas or perianal
ARGYRIA
🔹 Definition:
#Argyria is an uncommon illness brought on by the body accumulating silver particles, typically as a result of extended exposure to silver or silver compounds.
# A blue-gray staining of the skin, eyes, and mucous membranes is the defining characteristic and
Pulmonary Alveolar Proteinosis
● Introduction:
➣ Rosen et al. first reported it in 1958.
Pathology: Impaired gas exchange due to the buildup of amorphous, insoluble, lipoproteinaceous material in the alveoli.
➣ Etiology:
• Originally idiopathic, currently categorised as
• Idiopathic/autoi
BLAU SYNDROME
🔹 Definition:
#Mutations in the CARD15/NOD2 gene cause the rare autosomal dominant autoinflammatory condition known as Bluau Syndrome (BS).
# It is regarded as the Early-Onset Sarcoidosis family variety.
🔹 Pathophysiology & Genetics:
# Gene implicated: chromosome
Alpha-1 Antitrypsin Deficiency
● Introduction:
•AAT deficiency is a genetically inherited disorder.
•Caused by mutations in SERPINA1 gene → defective/low levels of AAT protein.
•AAT normally protects lungs from neutrophil elastase.
•Deficiency → lung damage (emphysema, bronchiectasis) + liver
Pediatric Crohn's Disease
▶Clinical Characteristics:
•About half of new patients present with abdominal discomfort, which is the most common presenting symptom.
•Bowel complaints, dietary concerns, and stunted growth (which separates pediatric from adult disease) are other prevalent problems.
ELASTODERMA
🔹 Definition:
# Elastoderma is a localized skin disorder marked by an aberrant buildup and looseness of dermal elastic fibers.
# It causes concentrated patches of loose, redundant, and drooping skin that are more locally distributed and frequently resemble cutis laxa.
Lymphangioleiomyomatosis
● General Background:
A rare multisystem disease that mostly affects the lungs but also affects the kidneys and lymphatics.
● Types:
➣ Sporadic LAM: caused by aberrant proliferation of smooth muscle-like cells, this condition happens without tuberous sclerosis.
➣
langerhans cell histiocytosis of the mandible
● Case Example:
The left cheek of a 4-year-old child is uncomfortably swollen.
● Clinical examination:
• Diffuse left mandibular oedema;
• Pliable and painful submandibular lymph nodes;
• Limited mouth opening (trismus, ~20 mm);
• No oral abnormalities
KORSAKOFF SYNDROME
● Definition:
A severe thiamine (vitamin B1) deficiency is the cause of Korsakoff Syndrome, a chronic neuropsychiatric condition that is most frequently linked to long-term alcohol abuse but can also be brought on by chronic sickness, continuous vomiting, starvation, or eati