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Autonomic dysfunction, peripheral neuropathy, and depression.

S Rimar1, S E Shaywitz, B A Shaywitz

  • 1Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06510.

Pediatric Neurology
|March 1, 1985
PubMed
Summary
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A rare condition caused by a defect in the noradrenergic system presents with autonomic dysfunction, peripheral neuropathy, and depression. This case highlights a previously unreported neurological entity.

Area of Science:

  • Neuroscience
  • Neurology
  • Biochemistry

Background:

  • Noradrenergic systems are crucial for regulating autonomic function, mood, and sensory processing.
  • Dysfunction in these systems can lead to a range of neurological and psychiatric symptoms.

Observation:

  • A 15-year-old male presented with diarrhea, dizziness, dysesthesias, depression, and significant orthostatic hypotension.
  • Neurological examination revealed decreased vibratory sensation and nerve conduction velocities in lower extremities.
  • Sural nerve biopsy showed generalized demyelination, with normal cerebrospinal fluid (CSF) protein.

Findings:

  • Plasma and urine norepinephrine levels were markedly reduced.
  • Cerebrospinal fluid (CSF) concentration of 3-methoxy-4-hydroxy phenylglycol (MHPG) was also significantly decreased.

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  • Toxicologic and metabolic screenings were unremarkable, ruling out common causes.

    • Implications:

    • This case represents a novel entity characterized by combined central and peripheral noradrenergic system defects.
    • The findings suggest a potential link between noradrenergic dysfunction and the observed triad of autonomic, peripheral nerve, and affective disorders.
    • Further research is warranted to elucidate the genetic or molecular basis of this condition and its therapeutic targets.