Hypotonic(Floppy) Infant: Model Clinical Case and Viva Q&A

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Clinical Case of Hypotonic Infant

A 6-month-old male infant is brought to the pediatric clinic by his parents with concerns about delayed motor development. The parents report that their child seems "floppy" and has difficulty holding his head up, sitting unsupported, and reaching for toys. They've also noticed he has a weak cry and difficulties feeding.

History:

  • Full-term birth with no complications
  • No significant family history of neuromuscular disorders
  • Delayed achievement of motor milestones:
    • Unable to roll over or sit without support
    • Weak grasp reflex
    • Poor head control

Physical Examination:

  • General: Alert but appears hypotonic
  • Neurological:
    • Decreased muscle tone in all limbs
    • Weak tendon reflexes
    • Positive head lag when pulled to sitting
    • "Frog-leg" position when supine
  • Respiratory: Normal breath sounds, no distress
  • Cardiovascular: Regular rhythm, no murmurs
  • Abdominal: Soft, non-tender, no organomegaly

Initial Impression:

The clinical presentation is consistent with infantile hypotonia. Further investigations are needed to determine the underlying cause, which could range from central nervous system disorders to neuromuscular junction diseases or myopathies.

Next Steps:

  1. Complete neurological assessment
  2. Genetic testing
  3. Electromyography (EMG) and nerve conduction studies
  4. Muscle biopsy if indicated
  5. Metabolic workup
  6. Brain and spinal MRI


Clinical Presentations

  1. Central Hypotonia (Brain or Spinal Cord Origin)

    • Decreased muscle tone with preserved or increased deep tendon reflexes
    • May have associated cognitive impairment or seizures
    • Examples: Down syndrome, Prader-Willi syndrome, cerebral palsy

  2. Peripheral Hypotonia (Neuromuscular Origin)

    • Decreased muscle tone with reduced or absent deep tendon reflexes
    • May have muscle weakness and atrophy
    • Examples: Spinal muscular atrophy, congenital myopathies

  3. Neuromuscular Junction Disorders

    • Fluctuating muscle weakness and fatigue
    • May have ptosis, feeding difficulties, and respiratory issues
    • Example: Congenital myasthenic syndromes

  4. Metabolic Disorders

    • Hypotonia with associated systemic symptoms
    • May have developmental regression, failure to thrive, or organ involvement
    • Examples: Mitochondrial disorders, organic acidemias

  5. Connective Tissue Disorders

    • Hypotonia with joint hypermobility
    • May have skin hyperextensibility or easy bruising
    • Example: Ehlers-Danlos syndrome

  6. Endocrine Disorders

    • Hypotonia with associated endocrine dysfunction
    • May have poor growth, abnormal thyroid function, or electrolyte imbalances
    • Examples: Hypothyroidism, hypoglycemia


Knowledge Check: Question and Answers for Medical Students & Professionals

This interactive quiz component covers essential viva questions and answers. It includes 30 high-yield viva questions with detailed answers.

Question 1 of 30


Disclaimer

The notes provided on Pediatime are generated from online resources and AI sources and have been carefully checked for accuracy. However, these notes are not intended to replace standard textbooks. They are designed to serve as a quick review and revision tool for medical students and professionals, and to aid in theory exam preparation. For comprehensive learning, please refer to recommended textbooks and guidelines.



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