The patient is a 37-year-old Caucasian male from Moldavia, height 172 cm and weight 62 kg, who was referred by neurosurgeons for lumbago without radicular radiation since December 2010 and a disc prolapse at Th10/11 without indication for surgery. Urination and defecation were intact. In 1993 during the war of independence against Russia he had experienced a gunshot through the right lung, requiring resection of ribs 1 to 3 on the right side and lobectomy of the right lower lobe. Since then, he had developed occasional panic attacks, attributed to the war trauma. In 1996 he experienced a second gunshot causing a skull fracture behind the right ear and traumatic lesion of the facial, statoacoustic, and trigeminal nerves on the right side. Despite three operations, he had not been achieved complete remission and right-sided anacusis, tinnitus, peripheral facial nerve palsy, and hemihypesthesia persisted. In 1998 lung tuberculosis was detected, requiring treatment with a single drug for three years. Since then he had suffered from chronic bronchitis attributed to tuberculosis and lobectomy. He reported recurrent holocrine or occipital headache. He had no history of pressure palsies. The family history was negative for neuromuscular disorders.
Clinical neurologic examination revealed anacusis on the right side, hypoacusis on the left side, peripheral facial nerve palsy on the right side, and hemihypesthesia of the right face. There was soreness of the neck muscles and weakness M4 for finger straddling on the left and M5- on the right side, weakness for hand flexion M4+ on the left side, weakness for foot extension M5- on the left and M4+ on the right side, and weakness for foot flexion M4+ on the right side. Discrete, diffuse wasting was evident in the upper and lower limbs and tendon reflexes were generally reduced. He had left-sided hypoesthesia of digits 4 and 5 and the ulnar hand edge and right-sided hypoesthesia in a stocking-type distribution and a tendency to fall to the left back on Romberg's test.
Laboratory investigations showed positivity of antibodies against hepatitis C virus and anti-nuclear antibodies (ANA) of 1 : 1280. HCV-RNA was present in the serum with a titer of 4.5E + 06. ECG showed incomplete right bundle-branch-block. Lung function tests revealed basal air-trapping (compensatory overinflation of the rest of the lung). Bronchoscopy detected chronic bronchial infection but excluded active tuberculosis or silicosis. Investigation of the cerebrospinal fluid (CSF) revealed elevated protein of 76.7 mg/dL (n, <43 mg/dL). MRI of the thoracic spine revealed a disc prolapse at Th11/12 and MRI of the cervical spine a disc prolapse at C6/7. The results of nerve conduction studies are presented in Table 1. There were indications for demyelination such as generally prolonged distal latencies, severely reduced nerve conduction velocities, conduction blocks at sites predisposing for compression, and absence of denervation in the right anterior tibial muscle. Transcranial magnetic stimulation revealed normal latencies to the abductor halluces muscles but prolonged latencies to the abductor digiti minimi muscles with normal central conduction time, suggesting absence of myelopathy due to the thoracic or cervical disc prolapse. Search for mutations in the PMP22 gene revealed the common 1.7 mb deletion in the heterozygous form, confirming the diagnosis of HNPP.