Hereditary compression syndrome of peripheral nerves

Staal, A.; Weerdt, C. J. de; Went, L. N.

doi:10.1212/wnl.15.11.1008

Cited by 39 publications

(10 citation statements)

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“…Seven of these also pre sented recurrent brachial plexus palsies (cases II-, II-1, II-2, II-3, II-4 from family I; cases II-2 from family 3 and case II-3 from family 4). Subsequently brachial plexus palsies in HNPP were reported by other authors [5,7,9,14,15,21,23,25,28], In our patients brachial plexus involvement represented the only clinical sign of the dis ease. The four episodes of brachial plexus palsies ob served in our patient 1 and that presented by his sister do not exclude the possible future onset of multiple mono neuropathies, although the other family members devel oped only transient brachial plexus palsies.…”

Section: Discussionsupporting

confidence: 62%

Recurrent Familial Brachial Plexus Palsies as the Only Clinical Expression of ‘Tomaculous’ Neuropathy

et al. 1989

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Two familial cases of recurrent brachial plexus are described and similar episodes were noticed in other members of the family. Electrophysiological investigations found impaired motor and sensory nerve conduction velocity in affected and nonaffected members. Tomaculous neuropathy was found at biopsy of peripheral nerve in more than 40% of dissected fibers. In addition, two affected members showed a reduced interpupillary distance, i.e. the most common dismorphic feature found in the hereditary neuralgic amyotrophy (HNA). A literature review showed only two other instances of recurrent familial brachial plexus palsies as the only manifestation of tomaculous neuropathy (hereditary neuropathy with liability to pressure palsy, HNPP). The dysmorphic feature found in our cases in addition to the clinical, electrophysiological and anatomical data support the hypothesis that these cases of HNPP and the HNA may represent the same disease.

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Section: Discussionsupporting

confidence: 62%

Recurrent Familial Brachial Plexus Palsies as the Only Clinical Expression of ‘Tomaculous’ Neuropathy

et al. 1989

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“…It is likely that linkage to flanking markers will be demonstrated in the future and will be associated with the genetic heterogeneity within HNPP. In the majority of patients the disease is inherited as an autosomal dominant trait, in agreement with previous reports [13,32,29,23,11]. In one third of patients no familiality is reported: however, bearing in mind the variable degree of expression of the disease, the possibility of a dominant type of heredity cannot be excluded even in the apparently sporadic cases.…”

Section: Discussionsupporting

confidence: 90%

Clinical spectrum of the tomaculous neuropathies. Report of 60 cases and review of the literature

1993

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Tomaculous neuropathy has a distinctive pathological pattern of myelin thickenings in a high proportion of internodes but no specific pattern of nerve degeneration. We have analyzed the variable clinical expression of this disorder in a large series of patients. Different phenotypes have been recognized: the majority of our patients (52 cases) had hereditary neuropathy with liability to pressure palsy (HNPP) showing wide variability of clinical progression and of severity of the single episodes. 3 patients suffered from familial recurrent brachial plexus neuropathy (FBPN); 5 patients had a symmetrical progressive sensorimotor involvement of the limbs (SSMN), predominantly in the distal portions and leading to permanent disability. The explanation for this clinical variability does not emerge from our data or from the literature. Segmental demyelination is the major change correlating with the episodes of nerve palsy; axonal degeneration might be rarely associated. The myelin sausages are the markers of a selective vulnerability of the nerve fibers either to mechanical injury or to some other unknown event.

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“…The sausage-like swellings of peripheral nerve myelin, first observed by Behse et al [3] in 1972 were later called 'tomacula' by Madrid and Bradley [4], HNLPP can manifest clinically at any age [1], The most commonly involved nerves are the axillary, median, radial, ulnar and peroneal nerves. Besides recur rent mononeuropathies, some patients may also have pes cavus and kyphoscoliosis [5], Interestingly, electrodiag nostic abnormalities similar to those seen in our patient, have been described in clinically unaffected family mem bers of known HNLPP kindreds [6][7][8][9].…”

Section: Discussionsupporting

confidence: 58%

Hereditary Neuropathy with Liability to Pressure Palsies Masquerading as Slowly Progressive Polyneuropathy

Poole

Blaivas

et al. 1994

Eur Neurol

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Hereditary neuropathy with liability to pressure palsies (HNLPP) is a peripheral nerve disorder in which recurrent pressure palsies are associated with pathological swelling (‘tomacula’) of myelinated nerve internodes. We report a patient with a slowly progressive polyneuropathy associated with substantial slowing of conduction velocities initially suggestive of an acquired or hereditary demyelinating polyneuropathy. However, repeat electrodiagnostic studies demonstrated that conduction slowing and partial conduction block were localized primarily to common sites of nerve compression and entrapment. Sural nerve biopsy revealed multiple tomacula consistent with the diagnosis of HNLPP.

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Hereditary compression syndrome of peripheral nerves

Cited by 39 publications

References 0 publications

Recurrent Familial Brachial Plexus Palsies as the Only Clinical Expression of ‘Tomaculous’ Neuropathy

Recurrent Familial Brachial Plexus Palsies as the Only Clinical Expression of ‘Tomaculous’ Neuropathy

Clinical spectrum of the tomaculous neuropathies. Report of 60 cases and review of the literature

Hereditary Neuropathy with Liability to Pressure Palsies Masquerading as Slowly Progressive Polyneuropathy

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