1/4. Hereditary neuropathy with liability to pressure palsies mimicking multifocal compression neuropathy.Hereditary neuropathy with liability to pressure palsies (HNPP) is a recurrent disorder of the peripheral nervous system characterized by reversible episodes of sensorimotor deficits after neural compression injuries. Also known as tomaculous neuropathy, HNPP is further characterized ultrastructurally by multiple focal thickenings (tomacula) of peripheral myelin and has an autosomal dominant inheritance. The neuropathology of HNPP includes a partial deletion encoding the peripheral myelin protein 22 (PMP-22) gene on chromosome 17, resulting in underexpression of PMP-22. We describe multiple compression mononeuropathies in an individual with HNPP and report neuropathologic findings in 2 clinically asymptomatic family members. diagnosis was confirmed using pulsed-field gel electrophoresis. We believe that this diagnosis is clinically underappreciated by hand surgeons and should be considered in the differential diagnosis of patients with atypical presentations of compression neuropathies.- - - - - - - - - - ranking = 1keywords = pressure (Clic here for more details about this article) |
2/4. gasoline sniffing multifocal neuropathy.The polyneuropathy caused by chronic gasoline inhalation is reported to be a gradually progressive, symmetric, sensorimotor polyneuropathy. We report unleaded gasoline sniffing by a female 14 years of age that precipitated peripheral neuropathy. In contrast with the previously reported presentation of peripheral neuropathy in gasoline inhalation, our patient developed multiple mononeuropathies superimposed on a background of sensorimotor polyneuropathy. The patient illustrates that gasoline sniffing neuropathy may present with acute multiple mononeuropathies resembling mononeuritis multiplex, possibly related to increased peripheral nerve susceptibility to pressure in the setting of neurotoxic components of gasoline. The presence of tetraethyl lead, which is no longer present in modern gasoline mixtures, is apparently not a necessary factor in the development of gasoline sniffer's neuropathy.- - - - - - - - - - ranking = 0.2keywords = pressure (Clic here for more details about this article) |
3/4. Idiopathic bilateral diaphragmatic paralysis.A 41-year-old man complained of subacute onset of dyspnea and pain in the neck and chest. He was diagnosed with bilateral diaphragmatic paralysis, based on clinical inspection of the breathing pattern and transdiaphragmatic pressure recording, and was trained to use a portable bi-level positive airway pressure apparatus (BiPAP). Needle electromyography showed profuse fibrillation potentials and positive waves in the diaphragm, more abundant on the right than left side, and no response to phrenic nerve stimulation. Other muscles were not involved. Follow-up examinations, performed at 9 and 12 months after onset of paralysis, demonstrated a slow but progressive improvement of the patient's respiratory function, together with the appearance of reinnervation potentials in the diaphragm, and polyphasic, long-latency responses to phrenic nerve stimulation. The subacute onset of the paralysis associated with local pain, and its subsequent recovery, suggest bilateral proximal lesions in the phrenic nerves. In the absence of traumatic or metabolic causes, these findings suggest that the phrenic nerve can be a target in idiopathic neuritis.- - - - - - - - - - ranking = 0.4keywords = pressure (Clic here for more details about this article) |
4/4. Hereditary neuropathy with liability to pressure palsies in infancy.Hereditary neuropathy with liability to pressure palsies is an autosomal-dominant disorder, classically characterized by recurrent mononeuropathies, associated with a deletion at 17p11.2, encompassing the peripheral myelin protein 22 gene. The typical clinical episodes of pressure palsy are usually noted for the first time during the 2nd or 3rd decade of life. We found only few reports in prepubertal children. We report a case of a 7.5-year-old child with muscle weakness and severe hypotonia associated with developmental gross motor delay. We suspect that bilateral peroneal nerve palsies after birth were the first episode of pressure palsy. Nerve conduction studies demonstrated slightly prolonged distal latencies with normal conduction velocity. Typical features of hereditary neuropathy with liability to pressure palsies with recurrent mononeuropathies were found in the father. dna analysis revealed 1.5-Mb deletion at 17p11.2 in both father and child. To the best of our knowledge, this patient is one of the youngest ever found with this disease.- - - - - - - - - - ranking = 1.6keywords = pressure (Clic here for more details about this article) |