Syringomyelia, limb hypertrophy and sympathetic overactivity: a rare association.

A 32-year-old man presented with uniform enlargement of right upper limb for 6 years. Examination revealed painful disorganised elbow joint along with sensory impairment in the affected limb with weakness of small muscles. The patient was given empirical antileprotic therapy from outside without any benefit. Ultrasonography showed pan-hypertrophic nature of local tissues. Although axonal type of sensorimotor neuropathy involving right ulnar and median nerve was detected in nerve conduction velocity study, biopsy of the same failed to confirm any axonal degeneration or evidence of leprosy. Considering the nature of sensory abnormality MRI of cervical spine was done which revealed a syrinx extending from C3 till D2. Tests for vasomotor tone showed positive results on the affected limb. Syringomyelia can rarely give rise to pan-hypertrophy of limb due to sympathetic overactivity, which is infrequently reported in literatures and deficient in logical grounds.

[Syringomyelic form of leprosy].

A 60-year-old man suffered from recurrent painless burns. During his first neurological work-up, ulcers with trophic changes were noted on the dorsum of both hands. Temperature and pain sensation were decreased over the upper extremities, but touch, vibration and position sense were normal. Syringomyelia was considered, but neuroradiologic evaluation was negative. A year later he was readmitted and was found to have patchy anesthesia involving all extremities, but no distal muscle weakness or wasting; tendon reflexes were normal. Leprosy was diagnosed and confirmed by skin and nerve biopsies. This syringomyelic form of leprosy is difficult to diagnose as it often mimics intraspinal space-occupying lesions. In Israel, where leprosy is still endemic, unusual sensory disturbances, such as patchy dysesthesia, should suggest its possibility.

Severe polyneuropathy in Tangier disease mimicking syringomyelia or leprosy. Clinical, biochemical, electrophysiological, and morphological evaluation, including electron microscopy of nerve, muscle, and skin biopsies.

Polyneuropathy in Tangier disease can be divided into three clinical types. The most severe form (type III) with a syringomyelia-like syndrome has been described in three cases only. Here, a fourth case of this type is presented. Because of unusual trophic disturbances even leprosy was suspected. Electrodiagnostic findings, including evoked cerebral potentials in this case, were suggestive of a generalized neuropathy with some degree of primary or secondary demyelination and implied possible impairment of central structures. Sural nerve biopsy, including electron microscopy and quantitative analysis, revealed a predominant reduction of smaller myelinated and unmyelinated fibres. The main morphological feature was the abundance of abnormal non-membrane-bound vacuoles in Schwann cells, mostly of the unmyelinated type, and in some endoneurial fibroblasts, macrophages and perineurial cells. There was no inverse relationship between lipid vacuoles and axons in Schwann cell complexes as suspected by others. An excess of endoneurial collagen as well as an increased fascicular area were obvious. In five skin biopsy specimens of different regions typical vacuoles were noted in Schwann cells, histiocytes, nevus cells, and rarely in perineurial cells.

Clinical recognition of leprosy: some factors leading to delays in diagnosis.

The case histories of eight patients in the United Kingdom admitted to hospital for the diagnosis of leprosy are examined in detail. Review of their early symptoms and signs showed that there had been delays in diagnosis, ranging from a few months to many years. Possible reasons for delay are discussed, and attention is called to the importance of nasal symptoms in the early diagnosis of lepromatous leprosy.