اطفال 👶🏼/اكاديمية البيت الطبي التعليمية🏠

A 2-day-old full-term male infant is brought to the emergency department by his parents due to lethargy and poor feeding. The mother reports a prolonged and difficult labor with fetal heart rate decelerations noted on the monitor. On examination, the infant appears floppy with decreased spontaneous movements. There are no spontaneous Moro reflexes, and the baby does not respond to tactile stimulation. Laboratory investigations show metabolic acidosis. A brain MRI reveals diffuse cerebral edema and decreased white matter differentiation. What is the most likely diagnosis? A. Neonatal Sepsis B. Neonatal Hypoglycemia C. Hypoxic-Ischemic Encephalopathy (HIE) D. Intracranial Hemorrhage E. Congenital Metabolic Disorder

Febrile seizures are seizures in young children (typically 6 months to 5 years) triggered by a fever (≥38°C or 100.4°F) not caused by a CNS infection. Key criteria include: 1. Age: 6 months to 5 years. 2. Fever: Seizure occurs with fever but without CNS infection. 3. No Prior Neurological Issues: No history of unprovoked seizures or developmental delays. 4. Seizure Type: • Simple: Generalized, lasts <15 minutes, occurs once in 24 hours. • Complex: May be focal, lasts >15 minutes, or recurs within 24 hours.

1. What is the inheritance pattern of Neurofibromatosis Type 1 (NF1)? • A) Autosomal recessive • B) X-linked dominant • C) Autosomal dominant • D) Mitochondrial inheritance Answer: C) Autosomal dominant 2. Which of the following skin findings is typically associated with NF1 in pediatric patients? • A) Vesicular lesions • B) Café-au-lait spots • C) Hypopigmented macules • D) Pustular lesions Answer: B) Café-au-lait spots 3. How many café-au-lait spots are required for the clinical diagnosis of NF1 in children? • A) At least 3 spots larger than 2 mm • B) At least 5 spots larger than 3 mm • C) At least 6 spots larger than 5 mm • D) At least 8 spots larger than 7 mm Answer: C) At least 6 spots larger than 5 mm 4. Which eye finding is commonly seen in children with NF1? • A) Retinal detachment • B) Lisch nodules • C) Cataracts • D) Glaucoma Answer: B) Lisch nodules 5. What type of tumor is most commonly associated with NF1 in the optic pathway of children? • A) Meningioma • B) Optic glioma • C) Retinoblastoma • D) Medulloblastoma Answer: B) Optic glioma 6. Which of the following findings would NOT be a diagnostic criterion for NF1? • A) Axillary or inguinal freckling • B) Two or more Lisch nodules • C) Multiple neurofibromas • D) Single café-au-lait spot Answer: D) Single café-au-lait spot 7. A 5-year-old child with NF1 presents with progressive scoliosis. Which specialty should be consulted for managing this complication? • A) Neurology • B) Orthopedics • C) Dermatology • D) Ophthalmology Answer: B) Orthopedics 8. Which gene mutation is responsible for NF1? • A) NF1 gene on chromosome 17 • B) NF2 gene on chromosome 22 • C) TSC1 gene on chromosome 9 • D) TP53 gene on chromosome 17 Answer: A) NF1 gene on chromosome 17 9. What is the main function of the neurofibromin protein produced by the NF1 gene? • A) Promotes tumor growth • B) Regulates blood glucose • C) Inhibits cell growth and division • D) Increases synaptic transmission in neurons Answer: C) Inhibits cell growth and division 10. Which of the following treatments has been shown to help shrink plexiform neurofibromas in children with NF1? • A) Adrenal corticosteroids • B) Antiepileptic drugs • C) MEK inhibitors (e.g., selumetinib) • D) Radiation therapy Answer: C) MEK inhibitors (e.g., selumetinib) 11. What is the typical age of onset for neurofibromas in children with NF1? • A) Infancy (0-1 year) • B) Early childhood (1-3 years) • C) Late childhood to adolescence • D) Adulthood only Answer: C) Late childhood to adolescence 12. Which of the following complications is associated with a higher risk of malignancy in NF1? • A) Café-au-lait spots • B) Lisch nodules • C) Plexiform neurofibromas • D) Axillary freckling Answer: C) Plexiform neurofibromas

B

Which of the following biochemical markers is often elevated and may indicate cell damage in neonates with HIE? A) Glucose B) Lactate C) Calcium D) Urea

75Se-homocholic acid taurine (SeHCAT) scan

A 36 year old woman presents with an intermittent history of diarrhea and increased bowel-opening frequency over a 2-year period. For the last 8 months, her symptoms have worsened and become persistent. She is currently passing stool 8 times per day with urgency. The consistency of stool is watery and she reports that her stool is green in colour. Her past medical history is mild asthma and cholecystectomy 12 months ago. She has no family history of note. What investigation is most likely to lead to the diagnosis? Colonoscopy Endoscopy and duodenal biopsy Hydrogen breath test 75Se-homocholic acid taurine (SeHCAT) scan Thyroid function test

Very important ✅

B

1. What is the most common anatomical abnormality associated with recurrent UTIs in children? A. Polycystic kidney disease B. Vesicoureteral reflux (VUR) C. Ureterocele D. Renal dysplasia

C

A 4-year-old, unvaccinated boy presents to the emergency department with fever, fatigue, and lower limb weakness that began two days ago. The child’s parents report that he had cold-like symptoms one week ago. Physical examination reveals decreased deep tendon reflexes in the lower limbs and mild muscle weakness, more pronounced on the left side. No sensory deficits are noted. A lumbar puncture is performed, and cerebrospinal fluid (CSF) analysis shows slightly elevated protein levels and a normal glucose level. Which of the following is the most likely diagnosis? A. Guillain-Barré Syndrome B. Transverse Myelitis C. Poliomyelitis D. Spinal Muscular Atrophy E. Botulism

Dx?

You are the resident on call and are called urgently to the bedside of a newborn. The nurse is concerned that the infant has developed a tension pneumothorax. Which of the following clinical signs most likely represent those seen in a newborn with tension pneumothorax? ‏tachypnea, cyanosis, and bradycardia✅✅✅