[Progressive hemifacial atrophy with sympathetic nerve dysfunction of central origin]

Area of Science:

• Neurology
• Autonomic Nervous System Research

Background:

• This report presents a unique case of a 37-year-old male with progressive right hemifacial atrophy, gait disturbance, and other systemic symptoms.
• The patient exhibited a constellation of symptoms including lipodystrophy, pseudo-Argyll Robertson's pupils, and amyotrophy, with onset in adolescence.

Observation:

• Clinical examination revealed pigmented gums, high-arched palate, mild intellectual disability, sexual impotence, and hearing impairment.
• Neurological assessments including cerebrospinal fluid analysis, EMG, EEG, muscle biopsy, and brain CT were unremarkable.
• Autonomic nervous system testing showed elevated plasma norepinephrine, increased sympathetic nerve activity, foot hypothermia, reduced CVR-R, and a blunted mydriatic response to cocaine.

Findings:

• Microneurography demonstrated highly accentuated muscle and skin sympathetic nerve activities.
• While responses to norepinephrine, acetylcholine, and histamine infusions/injections were normal, the overall autonomic profile suggested sympathicotonia.
• The progressive hemifacial atrophy, developing in early teens, is hypothesized to be linked to central nervous system dysfunction.

Implications:

• This case suggests a potential link between central nervous system dysfunction, sympathicotonia, and the pathogenesis of hemifacial atrophy.
• Further investigation into the role of the autonomic nervous system in craniofacial development and atrophy is recommended.
• Understanding this association may offer new diagnostic or therapeutic avenues for similar rare conditions.