السلام عليكم ورحمة الله وبركاته
✍️ "منقول للفائدة"
✨ Very Important Changes in Epilepsy Guidelines -2025- 28 ✨
Updated and highly relevant, these are the kind of changes you don’t want to miss! 🚨
Differences Between Old and New Epilepsy Guidelines
1. Generalised tonic–clonic seizures
Old guideline: 22-24
Carbamazepine, Lamotrigine, Oxcarbazepine, Sodium valproate (first-line).
New guideline: 25-28 Only Lamotrigine and Levetiracetam remain as first-line.
➝ Valproate and Carbamazepine removed due to safety concerns, especially in women/girls.
2 Tonic or atonic seizures
Old guideline: Sodium valproate (first-line).
New guideline: Lamotrigine only.
3. Absence seizures
• Old guideline: Ethosuximide, Lamotrigine, Sodium valproate (options).
•New guideline: Only Ethosuximide and Lamotrigine listed.
➝ Valproate removed.
4. Myoclonic seizures
• Old guideline: Sodium valproate, Topiramate (first-line).
• New guideline: Levetiracetam only.
➝ Valproate no longer first-line.
5. Focal seizures
Old guideline: Carbamazepine, Lamotrigine, Levetiracetam, Oxcarbazepine, Sodium valproate.
•New guideline: Only Lamotrigine and Levetiracetam remain.
➝ Carbamazepine, Oxcarbazepine, and Valproate removed.
*Summary in One Line*
The new guideline has streamlined first-line treatment, limiting choices mainly to Lamotrigine, Levetiracetam, and Ethosuximide, and has removed Sodium Valproate, Carbamazepine, Oxcarbazepine, and Topiramate as routine first-line due to safety and teratogenicity concerns.
@clinicalnote
✍️ "منقول للفائدة"
✨ Very Important Changes in Epilepsy Guidelines -2025- 28 ✨
Updated and highly relevant, these are the kind of changes you don’t want to miss! 🚨
Differences Between Old and New Epilepsy Guidelines
1. Generalised tonic–clonic seizures
Old guideline: 22-24
Carbamazepine, Lamotrigine, Oxcarbazepine, Sodium valproate (first-line).
New guideline: 25-28 Only Lamotrigine and Levetiracetam remain as first-line.
➝ Valproate and Carbamazepine removed due to safety concerns, especially in women/girls.
2 Tonic or atonic seizures
Old guideline: Sodium valproate (first-line).
New guideline: Lamotrigine only.
3. Absence seizures
• Old guideline: Ethosuximide, Lamotrigine, Sodium valproate (options).
•New guideline: Only Ethosuximide and Lamotrigine listed.
➝ Valproate removed.
4. Myoclonic seizures
• Old guideline: Sodium valproate, Topiramate (first-line).
• New guideline: Levetiracetam only.
➝ Valproate no longer first-line.
5. Focal seizures
Old guideline: Carbamazepine, Lamotrigine, Levetiracetam, Oxcarbazepine, Sodium valproate.
•New guideline: Only Lamotrigine and Levetiracetam remain.
➝ Carbamazepine, Oxcarbazepine, and Valproate removed.
*Summary in One Line*
The new guideline has streamlined first-line treatment, limiting choices mainly to Lamotrigine, Levetiracetam, and Ethosuximide, and has removed Sodium Valproate, Carbamazepine, Oxcarbazepine, and Topiramate as routine first-line due to safety and teratogenicity concerns.
@clinicalnote
❤3
🩺 Splenomegaly – “CHILD with a big spleen”
• C – Congestive (portal HTN, CHF)
• H – Hematological (hemolytic anemia, leukemia)
• I – Infections (malaria, kala-azar, EBV)
• L – Liver disease (cirrhosis, hepatitis)
• D – Disorders of storage (Gaucher’s, Niemann-Pick)
• C – Congestive (portal HTN, CHF)
• H – Hematological (hemolytic anemia, leukemia)
• I – Infections (malaria, kala-azar, EBV)
• L – Liver disease (cirrhosis, hepatitis)
• D – Disorders of storage (Gaucher’s, Niemann-Pick)
❤5
Drugs that increase the effect of warfarin (increase INR):
DEVICOS:
Disulfuram
Erythromycin, Ethanol toxicity (binge drinking)
Valproate
Isoniazid
Ciprofloxacin, Cimetidine
Omeprazole
Sulphonamides
Drugs that decrease the effect of warfarin (decrease INR):
CARSBP:
Carbamazepine
Alcohol abuse (chronic use)
Rifampicin
Sulphonylureas
Barbiturates
Phenytoin
DEVICOS:
Disulfuram
Erythromycin, Ethanol toxicity (binge drinking)
Valproate
Isoniazid
Ciprofloxacin, Cimetidine
Omeprazole
Sulphonamides
Drugs that decrease the effect of warfarin (decrease INR):
CARSBP:
Carbamazepine
Alcohol abuse (chronic use)
Rifampicin
Sulphonylureas
Barbiturates
Phenytoin
𝐀𝐩𝐩𝐫𝐨𝐚𝐜𝐡 𝐭𝐨 𝐋𝐨𝐰 𝐒𝐀𝐀𝐆 𝐀𝐬𝐜𝐢𝐭𝐞𝐬
Ascites with low serum-ascites albumin gradient (SAAG <1.1 g/dL) usually indicates non-portal hypertension causes, often due to peritoneal disease or hypoalbuminemia.
𝐒𝐭𝐞𝐩𝐰𝐢𝐬𝐞 𝐀𝐩𝐩𝐫𝐨𝐚𝐜𝐡:
𝟏. 𝐂𝐨𝐧𝐟𝐢𝐫𝐦 𝐋𝐨𝐰 𝐒𝐀𝐀𝐆:
• SAAG = Serum albumin – Ascitic fluid albumin
• Low: <1.1 g/dL → non-portal hypertension cause
𝟐. 𝐂𝐡𝐞𝐜𝐤 𝐀𝐬𝐜𝐢𝐭𝐢𝐜 𝐅𝐥𝐮𝐢𝐝 𝐀𝐧𝐚𝐥𝐲𝐬𝐢𝐬:
• 𝐂𝐞𝐥𝐥 𝐜𝐨𝐮𝐧𝐭 & 𝐝𝐢𝐟𝐟𝐞𝐫𝐞𝐧𝐭𝐢𝐚𝐥: look for infection or malignancy
• 𝐏𝐫𝐨𝐭𝐞𝐢𝐧 𝐥𝐞𝐯𝐞𝐥: >𝟐.𝟓 𝐠/𝐝𝐋 → exudative (infection, malignancy)
• 𝐏𝐫𝐨𝐭𝐞𝐢𝐧 𝐥𝐞𝐯𝐞𝐥: <𝟐.𝟓 𝐠/𝐝𝐋 → transudative causes
• Cytology: rule out malignancy
• ADA (adenosine deaminase): consider TB
• Gram stain / culture: for bacterial or TB peritonitis
𝐀𝐝𝐝𝐢𝐭𝐢𝐨𝐧𝐚𝐥 𝐓𝐞𝐬𝐭𝐬 𝐁𝐚𝐬𝐞𝐝 𝐨𝐧 𝐒𝐮𝐬𝐩𝐢𝐜𝐢𝐨𝐧:
• Imaging: CT abdomen/pelvis → masses, lymphadenopathy, TB features
• Biopsy: Peritoneal biopsy if TB or malignancy suspected
• Urinalysis / kidney function: If nephrotic syndrome suspected
• Pancreatic enzymes: If pancreatic ascites suspected
Ascites with low serum-ascites albumin gradient (SAAG <1.1 g/dL) usually indicates non-portal hypertension causes, often due to peritoneal disease or hypoalbuminemia.
𝐒𝐭𝐞𝐩𝐰𝐢𝐬𝐞 𝐀𝐩𝐩𝐫𝐨𝐚𝐜𝐡:
𝟏. 𝐂𝐨𝐧𝐟𝐢𝐫𝐦 𝐋𝐨𝐰 𝐒𝐀𝐀𝐆:
• SAAG = Serum albumin – Ascitic fluid albumin
• Low: <1.1 g/dL → non-portal hypertension cause
𝟐. 𝐂𝐡𝐞𝐜𝐤 𝐀𝐬𝐜𝐢𝐭𝐢𝐜 𝐅𝐥𝐮𝐢𝐝 𝐀𝐧𝐚𝐥𝐲𝐬𝐢𝐬:
• 𝐂𝐞𝐥𝐥 𝐜𝐨𝐮𝐧𝐭 & 𝐝𝐢𝐟𝐟𝐞𝐫𝐞𝐧𝐭𝐢𝐚𝐥: look for infection or malignancy
• 𝐏𝐫𝐨𝐭𝐞𝐢𝐧 𝐥𝐞𝐯𝐞𝐥: >𝟐.𝟓 𝐠/𝐝𝐋 → exudative (infection, malignancy)
• 𝐏𝐫𝐨𝐭𝐞𝐢𝐧 𝐥𝐞𝐯𝐞𝐥: <𝟐.𝟓 𝐠/𝐝𝐋 → transudative causes
• Cytology: rule out malignancy
• ADA (adenosine deaminase): consider TB
• Gram stain / culture: for bacterial or TB peritonitis
𝐀𝐝𝐝𝐢𝐭𝐢𝐨𝐧𝐚𝐥 𝐓𝐞𝐬𝐭𝐬 𝐁𝐚𝐬𝐞𝐝 𝐨𝐧 𝐒𝐮𝐬𝐩𝐢𝐜𝐢𝐨𝐧:
• Imaging: CT abdomen/pelvis → masses, lymphadenopathy, TB features
• Biopsy: Peritoneal biopsy if TB or malignancy suspected
• Urinalysis / kidney function: If nephrotic syndrome suspected
• Pancreatic enzymes: If pancreatic ascites suspected
❤1
Ambigous genitalia
We have to send for RBS and serum potassium, to exclude tge possibility of congenital adrenal hyperplasia CAH.
#pediatric
We have to send for RBS and serum potassium, to exclude tge possibility of congenital adrenal hyperplasia CAH.
#pediatric
NF1 + café-au-lait + heart murmur (pulmonary stenosis) → Watson syndrome
NF1 classic: multiple café-au-lait, axillary freckling, Lisch nodules, neurofibromas.
McCune-Albright: unilateral/irregular café-au-lait + endocrine problems, no heart murmur.
NF2: focus on bilateral vestibular schwannomas, not skin lesions.
NF1 classic: multiple café-au-lait, axillary freckling, Lisch nodules, neurofibromas.
McCune-Albright: unilateral/irregular café-au-lait + endocrine problems, no heart murmur.
NF2: focus on bilateral vestibular schwannomas, not skin lesions.
#Keypoint:#The_most_common .
#The most common cause of
Acute bronchiolitis --RSV .
CROUP -------------parainfluenza V.
Septic arthritis ------staph aureus.
Subacute IE ---------strep viridans .
# The most common malignancy in pediatrics is leukemia.(most common type ALL)
# The most common solid tumor in pediatrics is brain tumors.
# The most common extracranial solid tumor in pediatrics is neuroblastoma.
# The most common vasculitis in pediatrics is Henoch Schonlein purpura.).
# The most common cause of acute renal failure in pediatrics(UK) is haemolytic uraemic syndrome,
---but in developing countries is dehydration..
# The most common cause of haemolytic uraemic syndrome is Shiga toxin producing E Coli.
# The most common inherited bleeding tendency is Von Willebrand disease.
# The most common cause of hypertension in pediatrics is secondary to renal disease.
# The most common cause of acute flaccid paralysis in childhood is Guillain Barre syndrome.
#the most common trisomy and the most common genetic cause of severe learning difficulties is Down syndrome.
# The most common congenital heart disease is ventricular septal defect.
# The most common congenital heart disease in patients with Down's syndrome is atrioventricular canal.
# The most common mutation causing cystic fibrosis is delta F 508.
# The most common #skeletal anomaly in infant of diabetic mother is sacral agenesis .
#The most common cause of
Acute bronchiolitis --RSV .
CROUP -------------parainfluenza V.
Septic arthritis ------staph aureus.
Subacute IE ---------strep viridans .
# The most common malignancy in pediatrics is leukemia.(most common type ALL)
# The most common solid tumor in pediatrics is brain tumors.
# The most common extracranial solid tumor in pediatrics is neuroblastoma.
# The most common vasculitis in pediatrics is Henoch Schonlein purpura.).
# The most common cause of acute renal failure in pediatrics(UK) is haemolytic uraemic syndrome,
---but in developing countries is dehydration..
# The most common cause of haemolytic uraemic syndrome is Shiga toxin producing E Coli.
# The most common inherited bleeding tendency is Von Willebrand disease.
# The most common cause of hypertension in pediatrics is secondary to renal disease.
# The most common cause of acute flaccid paralysis in childhood is Guillain Barre syndrome.
#the most common trisomy and the most common genetic cause of severe learning difficulties is Down syndrome.
# The most common congenital heart disease is ventricular septal defect.
# The most common congenital heart disease in patients with Down's syndrome is atrioventricular canal.
# The most common mutation causing cystic fibrosis is delta F 508.
# The most common #skeletal anomaly in infant of diabetic mother is sacral agenesis .
👍2
Beckwith-Wiedemann syndrome (BWS)
Macrosomia + Macroglossia + Omphalocele / umbilical hernia
Macrosomia + Macroglossia + Omphalocele / umbilical hernia
Syndrome Triad
Murmur (pulmonary stenosis) + Jaundice + Butterfly vertebrae=Alagille syndrome
Wilms tumor + Aniridia + Genitourinary anomalies=WAGR syndrome
Macrosomia + Macroglossia + Omphalocele / Umbilical hernia=Beckwith-Wiedemann (BWS)
Coloboma + Heart defect + Choanal atresia=CHARGE syndrome
Situs inversus + Chronic sinusitis + Bronchiectasis=Kartagener syndrome
Micrognathia + Glossoptosis + Cleft palate=Pierre-Robin sequence
Mandibular hypoplasia + Coloboma of lower eyelid + Ear anomalies=Treacher-Collins syndrome
Pancytopenia + Short stature + Skeletal anomalies=Fanconi anemia
Pure red cell aplasia + Craniofacial anomalies + Thumb anomalies=Diamond-Blackfan anemia
Dark urine + Arthritis + Pigmentation (ochronosis)=Alkaptonuria
Mandibular hypoplasia + Limb anomalies + Ear anomalies=Nager syndrome
Facial port-wine stain + Leptomeningeal angioma + Seizures=
Sturge-Weber syndrome
Facial asymmetry + Epibulbar dermoid + Vertebral anomalies
=Goldenhar syndrome
Hypotonia + Single palmar crease + Characteristic facies=Trisomy 21 (Down)
Hypotonia + Hyperphagia / Obesity + Developmental delay= Prader-Willi syndrome
Severe developmental delay + Happy demeanor / laughter + Ataxia / seizures =Angelman syndrome
@clinicalnote
Murmur (pulmonary stenosis) + Jaundice + Butterfly vertebrae=Alagille syndrome
Wilms tumor + Aniridia + Genitourinary anomalies=WAGR syndrome
Macrosomia + Macroglossia + Omphalocele / Umbilical hernia=Beckwith-Wiedemann (BWS)
Coloboma + Heart defect + Choanal atresia=CHARGE syndrome
Situs inversus + Chronic sinusitis + Bronchiectasis=Kartagener syndrome
Micrognathia + Glossoptosis + Cleft palate=Pierre-Robin sequence
Mandibular hypoplasia + Coloboma of lower eyelid + Ear anomalies=Treacher-Collins syndrome
Pancytopenia + Short stature + Skeletal anomalies=Fanconi anemia
Pure red cell aplasia + Craniofacial anomalies + Thumb anomalies=Diamond-Blackfan anemia
Dark urine + Arthritis + Pigmentation (ochronosis)=Alkaptonuria
Mandibular hypoplasia + Limb anomalies + Ear anomalies=Nager syndrome
Facial port-wine stain + Leptomeningeal angioma + Seizures=
Sturge-Weber syndrome
Facial asymmetry + Epibulbar dermoid + Vertebral anomalies
=Goldenhar syndrome
Hypotonia + Single palmar crease + Characteristic facies=Trisomy 21 (Down)
Hypotonia + Hyperphagia / Obesity + Developmental delay= Prader-Willi syndrome
Severe developmental delay + Happy demeanor / laughter + Ataxia / seizures =Angelman syndrome
@clinicalnote
❤1🔥1
Ascites in an elderly patient without liver disease →
you should think beyond cirrhosis/portal hypertension.
Here are the major alternative causes:
🔹 1. Malignancy (common in old age)
Peritoneal carcinomatosis (ovarian, gastric, colon, pancreatic, breast cancers).
Malignant ascites is often high protein and usually has a low SAAG (<1.1 g/dL).
🔹 2. Heart failure / Constrictive pericarditis
Right heart failure, tricuspid regurgitation.
Ascitic fluid: high SAAG (>1.1 g/dL) and high protein.
🔹 3. Nephrotic syndrome
Hypoalbuminemia → reduced oncotic pressure.
Ascitic fluid: low SAAG (<1.1), low protein.
🔹 4. Tuberculosis peritonitis
Chronic ascites, often with fever, night sweats, weight loss.
Ascitic fluid: exudative, lymphocyte-predominant, high ADA.
🔹 5. Pancreatic or Biliary disease
Pancreatic ascites (chronic pancreatitis, duct leak).
Biliary ascites (bile leak after trauma/surgery).
Ascitic fluid:
very high amylase (pancreatic), or high bilirubin (biliary).
📌 Approach:
Always calculate SAAG (serum–ascites albumin gradient):
≥ 1.1 g/dL → portal hypertension (cardiac, hepatic, Budd–Chiari).
< 1.1 g/dL → peritoneal cause (malignancy, TB, pancreatitis, nephrotic syndrome).
@clinicalnote
you should think beyond cirrhosis/portal hypertension.
Here are the major alternative causes:
🔹 1. Malignancy (common in old age)
Peritoneal carcinomatosis (ovarian, gastric, colon, pancreatic, breast cancers).
Malignant ascites is often high protein and usually has a low SAAG (<1.1 g/dL).
🔹 2. Heart failure / Constrictive pericarditis
Right heart failure, tricuspid regurgitation.
Ascitic fluid: high SAAG (>1.1 g/dL) and high protein.
🔹 3. Nephrotic syndrome
Hypoalbuminemia → reduced oncotic pressure.
Ascitic fluid: low SAAG (<1.1), low protein.
🔹 4. Tuberculosis peritonitis
Chronic ascites, often with fever, night sweats, weight loss.
Ascitic fluid: exudative, lymphocyte-predominant, high ADA.
🔹 5. Pancreatic or Biliary disease
Pancreatic ascites (chronic pancreatitis, duct leak).
Biliary ascites (bile leak after trauma/surgery).
Ascitic fluid:
very high amylase (pancreatic), or high bilirubin (biliary).
📌 Approach:
Always calculate SAAG (serum–ascites albumin gradient):
≥ 1.1 g/dL → portal hypertension (cardiac, hepatic, Budd–Chiari).
< 1.1 g/dL → peritoneal cause (malignancy, TB, pancreatitis, nephrotic syndrome).
@clinicalnote
❤4
Evidence of fat malabsorption —
such as:
Steatorrhoea
Deficiencies of fat-soluble vitamins (A, D, E, K)
👉 usually points more towards Crohn’s disease (CD) than Ulcerative colitis (UC).
🔹 Reason:
In Crohn’s disease, the small intestine (especially the terminal ileum) is often involved → this is where fat and fat-soluble vitamins are absorbed → leading to malabsorption.
In Ulcerative colitis, the disease is confined to the colon → nutrient absorption in the small bowel is preserved → steatorrhoea and vitamin deficiencies are uncommon.
📌 So, the presence of fat malabsorption is a clinical clue favouring CD over UC
@clinicalnote
such as:
Steatorrhoea
Deficiencies of fat-soluble vitamins (A, D, E, K)
👉 usually points more towards Crohn’s disease (CD) than Ulcerative colitis (UC).
🔹 Reason:
In Crohn’s disease, the small intestine (especially the terminal ileum) is often involved → this is where fat and fat-soluble vitamins are absorbed → leading to malabsorption.
In Ulcerative colitis, the disease is confined to the colon → nutrient absorption in the small bowel is preserved → steatorrhoea and vitamin deficiencies are uncommon.
📌 So, the presence of fat malabsorption is a clinical clue favouring CD over UC
@clinicalnote
👍4❤1🔥1
📌Lung Cancer :-
💡The most common cause of bronchial cancer is cigarette smoking.
💡The most common type of lung cancer is adenocarcinoma.
💡The least common type of lung cancer is large cell carcinoma.
💡The most common worst type of lung cancer is mainly mesothelioma (2_3 months survival rate) and small cell carcinoma (1_2 years survival rate).
💡The most common early symptom is dry cough.
💡The most common lung cancer causing superior vena cava syndrome is small cell lung carcinoma (SCLC).
💡The most common lung cancer causing pancoast tumor is squamous cell carcinoma.
💡The most common lung cancer causing SIADH is small cell carcinoma (due to secretion of ADH).
💡The most common lung cancer causing hypercalcemia is squamous cell carcinoma (due to secretion of PTH_like protein).
💡The most common lung cancer causing cushing's syndrome is small cell carcinoma (due to secretion of ectopic ACTH).
💡The most common lung cancer causing eaton_lambert syndrome is small cell carcinoma.
💡The most common lung cancer causing hypertrophic osteoarthropathy is adenocarcinoma.
💡The most common lung cancer causing gynecomastia and galactorrhoea in males and false positive pregnancy test in females is large cell carcinoma (due to secretion of beta_HCG).
💡The most specific investigation is biopsy.
💡The most useful initial test is CXR.
💡The most common type of lung cancer in non_smoker is adenocarcinoma.
💡The most common cavitating lung cancer is squamous cell carcinoma.
💡The most sensitive lung cancer to radiotherapy and chemotherapy is small cell lung carcinoma.
💡The least sensitive lung cancer to radiotherapy and chemotherapy is large cell carcinoma.
💡The best prognostic tumor among lung cancers is squamous cell carcinoma.
💡The most common cause of bronchial cancer is cigarette smoking.
💡The most common type of lung cancer is adenocarcinoma.
💡The least common type of lung cancer is large cell carcinoma.
💡The most common worst type of lung cancer is mainly mesothelioma (2_3 months survival rate) and small cell carcinoma (1_2 years survival rate).
💡The most common early symptom is dry cough.
💡The most common lung cancer causing superior vena cava syndrome is small cell lung carcinoma (SCLC).
💡The most common lung cancer causing pancoast tumor is squamous cell carcinoma.
💡The most common lung cancer causing SIADH is small cell carcinoma (due to secretion of ADH).
💡The most common lung cancer causing hypercalcemia is squamous cell carcinoma (due to secretion of PTH_like protein).
💡The most common lung cancer causing cushing's syndrome is small cell carcinoma (due to secretion of ectopic ACTH).
💡The most common lung cancer causing eaton_lambert syndrome is small cell carcinoma.
💡The most common lung cancer causing hypertrophic osteoarthropathy is adenocarcinoma.
💡The most common lung cancer causing gynecomastia and galactorrhoea in males and false positive pregnancy test in females is large cell carcinoma (due to secretion of beta_HCG).
💡The most specific investigation is biopsy.
💡The most useful initial test is CXR.
💡The most common type of lung cancer in non_smoker is adenocarcinoma.
💡The most common cavitating lung cancer is squamous cell carcinoma.
💡The most sensitive lung cancer to radiotherapy and chemotherapy is small cell lung carcinoma.
💡The least sensitive lung cancer to radiotherapy and chemotherapy is large cell carcinoma.
💡The best prognostic tumor among lung cancers is squamous cell carcinoma.
❤6
🔘Acute Bronchiolitis In Infancy :🔻
⛔Cause:
Respiratory syncytial virus (RSV)
⛔Clinical/Picture:
◽Cough
◽Wheeze
◽Dyspnea
◽⬇ Feeding
◽Apnea
◽Tachypnea
⛔-Treatment
◽ O2
◽IVF
⛔Death causes:
◽Respiratory failure
◽Apnea
◽Dehydration
⛔Cause:
Respiratory syncytial virus (RSV)
⛔Clinical/Picture:
◽Cough
◽Wheeze
◽Dyspnea
◽⬇ Feeding
◽Apnea
◽Tachypnea
⛔-Treatment
◽ O2
◽IVF
⛔Death causes:
◽Respiratory failure
◽Apnea
◽Dehydration
#note
Causes of《 Apnea》In Premature Baby》:
🌕Hyaline Membrane disease
🌕Hypoglycemia
🌕Narcotic Drug Given To Mother
🌕Intracranial haemorrhage
🌕Pneumonia
🌕Sepsis
Causes of《 Apnea》In Premature Baby》:
🌕Hyaline Membrane disease
🌕Hypoglycemia
🌕Narcotic Drug Given To Mother
🌕Intracranial haemorrhage
🌕Pneumonia
🌕Sepsis
Indications for MRI of brain.
1.Focal epilepsy (including TLE) except rolandic seizures.
2. Epilepsy in children aged <2 yr •
3.Myoclonic epilepsy.
4.Intractable seizures.
5.Loss of previous good control.
6.Seizures continuing in spite of first line medication.
7.Associated neurological deficits.
8.appearance of new neurological signs •
9.Developmental regression in children with epilepsy.
10.Infantile spasms (West’s syndrome)
1.Focal epilepsy (including TLE) except rolandic seizures.
2. Epilepsy in children aged <2 yr •
3.Myoclonic epilepsy.
4.Intractable seizures.
5.Loss of previous good control.
6.Seizures continuing in spite of first line medication.
7.Associated neurological deficits.
8.appearance of new neurological signs •
9.Developmental regression in children with epilepsy.
10.Infantile spasms (West’s syndrome)
❤1👍1
Kartagener Syndrome (KS) :
Kartagener syndrome is a subset of Primary Ciliary Dyskinesia (PCD) characterized by the triad of:
1. Chronic sinusitis
2. Bronchiectasis
3. Situs inversus
It is a genetic disorder of motile cilia leading to impaired mucociliary clearance.
⸻
🧬 Etiology & Genetics
• Autosomal recessive
• Caused by defects in dynein arms of cilia
• Common genes: DNAH5, DNAI1
• Leads to immotile or dyskinetic cilia
⸻
🔬 Pathophysiology
Defective ciliary movement →
• Poor clearance of mucus and pathogens →
• Recurrent respiratory infections
• During embryogenesis, impaired ciliary motion causes random organ placement → situs inversus
⸻
🧑⚕️ Clinical Features
Respiratory
• Chronic productive cough
• Recurrent pneumonia
• Bronchiectasis
• Chronic rhinosinusitis
• Otitis media → hearing loss
Laterality
• Situs inversus totalis (heart on right, liver on left)
Reproductive
• Male infertility (immotile sperm flagella)
• Reduced female fertility (impaired ciliary transport in fallopian tubes)
Neonatal Period (important!)
• Unexplained neonatal respiratory distress in term infants
⸻
🧪 Diagnosis
Screening / Clues
• Chronic wet cough from early childhood
• Recurrent ENT + chest infections
• Dextrocardia on chest X-ray
Confirmatory Tests
• Low nasal nitric oxide (screening)
• High-speed video microscopy – abnormal ciliary motion
• Electron microscopy – absent dynein arms
• Genetic testing (confirmatory)
⸻
🧠 Key Differentiation
Feature Kartagener Syndrome Cystic Fibrosis
Situs inversus ✅ Yes ❌ No
Sweat chloride Normal Elevated
Fertility issues Common Less common
Cause Ciliary dysfunction CFTR mutation
⸻
🩺 Management
There is no cure, but symptoms are manageable:
• Chest physiotherapy
• Regular airway clearance
• Prompt antibiotics for infections
• Vaccinations (influenza, pneumococcal)
• ENT care (grommets if needed)
• Fertility counseling in adults
⸻
📌 Exam Pearl (MRCPCH / USMLE)
Chronic sinusitis + bronchiectasis + situs inversus = Kartagener syndrome until proven otherwise
Kartagener syndrome is a subset of Primary Ciliary Dyskinesia (PCD) characterized by the triad of:
1. Chronic sinusitis
2. Bronchiectasis
3. Situs inversus
It is a genetic disorder of motile cilia leading to impaired mucociliary clearance.
⸻
🧬 Etiology & Genetics
• Autosomal recessive
• Caused by defects in dynein arms of cilia
• Common genes: DNAH5, DNAI1
• Leads to immotile or dyskinetic cilia
⸻
🔬 Pathophysiology
Defective ciliary movement →
• Poor clearance of mucus and pathogens →
• Recurrent respiratory infections
• During embryogenesis, impaired ciliary motion causes random organ placement → situs inversus
⸻
🧑⚕️ Clinical Features
Respiratory
• Chronic productive cough
• Recurrent pneumonia
• Bronchiectasis
• Chronic rhinosinusitis
• Otitis media → hearing loss
Laterality
• Situs inversus totalis (heart on right, liver on left)
Reproductive
• Male infertility (immotile sperm flagella)
• Reduced female fertility (impaired ciliary transport in fallopian tubes)
Neonatal Period (important!)
• Unexplained neonatal respiratory distress in term infants
⸻
🧪 Diagnosis
Screening / Clues
• Chronic wet cough from early childhood
• Recurrent ENT + chest infections
• Dextrocardia on chest X-ray
Confirmatory Tests
• Low nasal nitric oxide (screening)
• High-speed video microscopy – abnormal ciliary motion
• Electron microscopy – absent dynein arms
• Genetic testing (confirmatory)
⸻
🧠 Key Differentiation
Feature Kartagener Syndrome Cystic Fibrosis
Situs inversus ✅ Yes ❌ No
Sweat chloride Normal Elevated
Fertility issues Common Less common
Cause Ciliary dysfunction CFTR mutation
⸻
🩺 Management
There is no cure, but symptoms are manageable:
• Chest physiotherapy
• Regular airway clearance
• Prompt antibiotics for infections
• Vaccinations (influenza, pneumococcal)
• ENT care (grommets if needed)
• Fertility counseling in adults
⸻
📌 Exam Pearl (MRCPCH / USMLE)
Chronic sinusitis + bronchiectasis + situs inversus = Kartagener syndrome until proven otherwise
❤2
Osteogenesis Imperfecta (OI) :
“Brittle bone disease”
A genetic disorder of connective tissue characterized by bone fragility due to defective type I collagen.
Etiology
• Mostly autosomal dominant
• Mutations in COL1A1 / COL1A2 genes
• Leads to ↓ quantity or abnormal quality of type I collagen
⸻
Classic Clinical Features
Mnemonic: B L U E
• Bones fracture easily (minimal trauma)
• Ligament laxity & joint hypermobility
• Unusually blue sclera
• Ear problems → hearing loss (conductive/sensorineural)
Other features
• Short stature
• Bone deformities
• Scoliosis
• Dentinogenesis imperfecta (opalescent teeth)
• Wormian bones in skull (X-ray)
⸻
Sillence Classification (Simplified)
Type Severity Key Features
Type I Mild Blue sclera, normal stature, fractures in childhood
Type II Lethal Multiple fractures at birth, severe deformities
Type III Severe Progressive deformity, very short stature
Type IV Moderate Normal sclera, fractures, mild deformity
⸻
Diagnosis
• Clinical features + family history
• X-ray: osteopenia, fractures, Wormian bones
• Genetic testing (confirmatory)
• DEXA scan → low bone density
⸻
Management
• No cure → supportive & preventive
• Bisphosphonates (e.g., pamidronate) ↓ fracture rate
• Calcium & Vitamin D
• Physiotherapy
• Orthopedic surgery (rodding)
• Hearing evaluation
• Genetic counseling
⸻
Key Exam Pearls
• Blue sclera + recurrent fractures → think OI
• Differentiate from child abuse
• Normal calcium, phosphate, ALP usually
“Brittle bone disease”
A genetic disorder of connective tissue characterized by bone fragility due to defective type I collagen.
Etiology
• Mostly autosomal dominant
• Mutations in COL1A1 / COL1A2 genes
• Leads to ↓ quantity or abnormal quality of type I collagen
⸻
Classic Clinical Features
Mnemonic: B L U E
• Bones fracture easily (minimal trauma)
• Ligament laxity & joint hypermobility
• Unusually blue sclera
• Ear problems → hearing loss (conductive/sensorineural)
Other features
• Short stature
• Bone deformities
• Scoliosis
• Dentinogenesis imperfecta (opalescent teeth)
• Wormian bones in skull (X-ray)
⸻
Sillence Classification (Simplified)
Type Severity Key Features
Type I Mild Blue sclera, normal stature, fractures in childhood
Type II Lethal Multiple fractures at birth, severe deformities
Type III Severe Progressive deformity, very short stature
Type IV Moderate Normal sclera, fractures, mild deformity
⸻
Diagnosis
• Clinical features + family history
• X-ray: osteopenia, fractures, Wormian bones
• Genetic testing (confirmatory)
• DEXA scan → low bone density
⸻
Management
• No cure → supportive & preventive
• Bisphosphonates (e.g., pamidronate) ↓ fracture rate
• Calcium & Vitamin D
• Physiotherapy
• Orthopedic surgery (rodding)
• Hearing evaluation
• Genetic counseling
⸻
Key Exam Pearls
• Blue sclera + recurrent fractures → think OI
• Differentiate from child abuse
• Normal calcium, phosphate, ALP usually
❤6
Fever + Petechial/purpuric rash rapid progressive+ GCS low + shock = meningococcemia
So do immediately→ blood culture + immediate IV antibiotics
So do immediately→ blood culture + immediate IV antibiotics
❤5
Beckwith-Wiedemann
syndrome
:
omphalocele,
severe hypoglycemia,
macrosomia,
macroglossia
syndrome
:
omphalocele,
severe hypoglycemia,
macrosomia,
macroglossia