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☕️ Which of the following is the most likely cause of this patient's condition?

Morning Quiz 127 ☕️

Morning Quiz ☕️ 

A 2-month-old boy is brought to the emergency department due to:

  • Progressively worsening "floppiness"

  • Poor feeding

  • Decreased stool frequency (every other day, small and pellet-like)

Birth & Developmental History

  • Born in Eastern Europe via uncomplicated vaginal delivery to a 38-year-old woman.

  • Recently immigrated to the United States.

  • Parents describe him as a "good baby" who:

    • Rarely cries

    • Sleeps through the night

    • Recently difficult to rouse for breastfeeding

Physical Examination Findings

  • Hypotonia

  • Large anterior fontanelle

  • Large tongue

  • Reducible umbilical hernia

  • Unable to hold head erect

  • No other abnormalities noted

Question

Which of the following is the most likely cause of this patient's condition?

Options

A. Botulism
B. Down syndrome
C. Galactosemia
D. Hirschsprung disease
E. Hypothyroidism 
F. Phenylketonuria

Correct Answer 🎯: E. Hypothyroidism 

⚙️

🧠 Congenital Hypothyroidism

(most likely cause due to endemic iodine deficiency in Eastern Europe)

↓ Thyroid Hormone (T3, T4) production during fetal/neonatal period

↓ Cellular Metabolism across multiple tissues

↓ Energy Production + Protein Synthesis

Impaired Brain Development 🧠

→ Lethargy (“good baby” who rarely cries, sleeps excessively)

→ Poor feeding (difficult to rouse for breastfeeding)

→ Hypotonia (unable to hold head erect)

↓ Gastrointestinal Motility

Constipation (small, pellet-like stools every other day)

↓ Muscle Tone + Myxedema Effects

Large Tongue (macroglossia)

  • Hypotonia (floppy infant)

  • Umbilical Hernia (weak abdominal muscles)

↓ Bone Development

Large Anterior Fontanelle (delayed fontanelle closure)

Differential Table ⚖️

Differential ⚖️

Mechanism ⚙️

Why Incorrect? 🔴

Hypotonia (Floppy Baby)

↓ Myelination & Synapse Formation

Ragdoll Muscles (No Muscle Tone)

Lethargy

↓ Brain Energy Metabolism

Sleeping Beauty Mode (Hard to Rouse)

Constipation

↓ GI Motility

Traffic Jam in the Bowels

Macroglossia

Protein + Glycosaminoglycan Buildup

Tongue Too Big for Mouth

Umbilical Hernia

Weak Abdominal Muscles

Outie Belly Button (Muscles Can’t Hold)

Large Fontanelle

Delayed Bone Ossification

Soft Spot Stays Wide Ope

Visual Cheat Chart 📈 

Practice Questions ⏳️ 

Most Importantly Solve UWorld Questions with IDs:

1407, 19752, 19753, 20168, 19747, 19756

Stay Hungry, Stay Curious!

Your Brother in This Struggle

Dr. Shoaib Ahmad