Neurologic findings

a. Intracranial pressure. Perform cranial nerve exam, and check for a flat fontanel and papilledema.

b. Evidence of trauma. Check for stability of cervical spine, intact frenulum, bruising of skin, bony tenderness.

c. Deep tendon reflexes. Are reflexes preserved, hyper-reflexic, hyporeflexic, or absent? Are primitive reflexes present? Presence of primitive reflexes beyond the neonatal period reflects CNS or upper motor neuron disease.

d. Sensation. Loss of sensation raises concern of spinal cord injury. However, inability to withdraw from a noxious stimulus may indicate severe muscle weakness. To assess this parameter more carefully, examine infant's ability to resist gravitational forces when an extremity is raised. Children with lower motor neuron disease should have preserved mental status.

e. Tongue fasciculation. Given the generous subcutaneous tissue mass usually present on most infants, muscle fascic-ulation or wasting may be difficult to assess elsewhere.

4. Musculoskeletal findings. Any arthrogryposis, contractures, or dislocations? Presence of these findings during infancy points to a prenatal onset.

B. Laboratory Data. Initial studies are guided by history and physical exam but will likely include the following:

1. CBC with differential.

2. Infectious workup (eg, blood culture, urinalysis, urine culture, lumbar puncture). Consider if infection is suggested by history or physical exam.

3. Electrolytes (including glucose, calcium, potassium).

4. BUN and creatinine.

5. Thyroid function tests.

6. Urine for organic acids.

7. Creatine phosphokinase.

8. Other tests (as appropriate)

a. Stool studies for Clostridium botulinum.

b. DNA test for spinal muscle atrophy (SMA) or myotonic dystrophy.

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