Peripheral Nerve Dysfunction in Middle-Aged Subjects Born with Thalidomide Embryopathy.

Area of Science:

• Neurology
• Congenital Malformations
• Peripheral Nervous System Disorders

Background:

• Phocomelia, a rare congenital malformation, is linked to in utero thalidomide exposure.
• Individuals with thalidomide embryopathy (TE) report peripheral nervous system dysfunction in affected limbs later in life.

Purpose of the Study:

• To investigate the prevalence and nature of peripheral nervous system dysfunction in adults with thalidomide embryopathy.
• To compare neurophysiological findings in TE subjects with upper limb anomalies and neuropathic symptoms against healthy controls.

Main Methods:

• A case-control study involving 17 subjects with TE and 17 healthy controls.
• Standard neurophysiological testing, including electrophysiological assessments of nerve function.
• Exclusion of other potential causes of peripheral neuropathy prior to evaluation.

Main Results:

• Three-quarters of TE subjects exhibited features of upper limb compressive neuropathy.
• Electrophysiological evidence showed median large fiber neuropathic abnormality and reduced sympathetic skin response amplitudes in affected upper limbs.
• Lower limbs demonstrated sural nerve dysfunction and impaired warm perception thresholds, indicating small fiber neuropathy.

Conclusions:

• Adults with TE present with diverse neurological findings beyond upper limb compressive neuropathies.
• Electrophysiological evidence suggests both large and small fiber axonal nerve dysfunction, potentially stemming from the original thalidomide insult.
• Further investigation is warranted to understand the long-term neurological consequences of thalidomide embryopathy.