Rare Cases
Hepatoblastoma in pediatrics
● Introduction:
Hepatoblastoma is an uncommon malignancy in children. Every year, about 100 instances of hepatoblastoma are documented. An globally accepted criterion was created to categorise patients as standard or high-risk due to the disorder's low occurrence. It has
Classic Hairy Cell Leukemia
● General Details
• Illness: Hairy Cell Leukaemia (HCL), an uncommon, slow-growing B-cell tumour.
• Incidence: 600 to 800 new cases each year in the United States.
• Epidemiology: Men in their middle years (M:F = 4:1), median age ~55.
• Pathology: Infiltration of
Moyamoya Disease
● General Background
•A rare, progressive steno-occlusive cerebral vascular disease with an unclear aetiology is called Moyamoya disease.
•Most common: Asians, particularly those from Japan.•Male-to-female ratio: 1:1.8.
•First ten years of life is the most common dia
Familial amyloid cardiomyopathy
● Background:
Transthyretin protein buildup in the myocardium results in increased wall thickness and diastolic dysfunction, which causes transthyretin amyloid cardiomyopathy (ATTR-CM), an infiltrative progressive heart disease.
● Two types:
Hereditary (ATTRm): caused
Achondroplasia
● General Information
•The most prevalent type of skeletal dysplasia, or short-limb dwarfism, is achondroplasia.
•The prevalence is about 1 in 15,000.
•Complete penetrance, autosomal dominant inheritance.
•De novo FGFR3 mutations account for 80% of cases (point muta
Primary Appendiceal adenocarcinoma
● Epidemiology & Background
Approximately 1.2 cases per 100,000 people per year is the incidence.
Male inclination, more prevalent in older adults (60–70 years).
● Risk factors:
• Not well identified.
• Frequently found by chance during surgery or in the histolo
Dripping Wax Bone Disease – Melorheostosis
Patient Data
Age, Gender, and Occupation: Homemaker, 28 years old.
Location: Chennai, India's Sri Ramachandra Medical Centre.
The main complaint is three months of left knee pain.
Current Illness History
Onset: Slowly developing and sneaky.
Features of pain:
exacerbated by
Chronic Recurrent Multifocal Osteomyelitis
Background and Overview of the Disease
Rare and non-infectious, CRMO is an autoinflammatory bone disease that typically affects children and teenagers.
Giedion et al. initially described it in 1972
SAPHO syndrome (Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis) is thoug
Ewing Sarcoma of Femur
● Patient History & Profile
➣Age/Sex: boy, 10 years old
➣Chief complaint:
•The main complaint is soreness in the right thigh for a few weeks.
➣Medical history:
•began as a dull, sporadic discomfort and progressed to excruciating, ongoing agony.
•Nighttim
Ewing Sarcoma of Femur
● Patient History & Profile
➣Age/Sex: boy, 10 years old
➣Chief complaint:
•The main complaint is soreness in the right thigh for a few weeks.
➣Medical history:
•began as a dull, sporadic discomfort and progressed to excruciating, ongoing agony.
•Nighttim
Anti NMDA RECEPTOR ENCEPHALITIS
● Definition:
an autoimmune encephalitis brought on by antibodies that target the NMDA glutamate receptor, typically against the NR1 subunit. presents with a neurological progression (seizures, movement disorders, decreased consciousness, autonomic instability) after an early
Anti LGI1 Encephalitis
● Occurrence:
➣first mentioned in or around 2010.
➣ Case reports and series are now recorded all over the world.
➣For instance, in a Japanese case from 2024, a patient was diagnosed with anti-LGI1 encephalitis after being brought to psychiatry with anxiety, panic, and