Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030552 (paresis)
 5,831 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present a 10-year-old female diagnosed having hereditary neuropathy with liability to pressure palsies (HNPP). She had suffered from acute, recurrent monoplegic episodes affecting both the sciatic nerves and the left brachial plexus since the age of 7 years. The paresis seemed to be triggered by hiking and athletic training. Electrophysiological studies showed a conduction block in the proximal portions of affected nerves. The FISH method disclosed a deletion of the peripheral myelin protein 22 gene. This school child having HNPP is considered to be susceptible to the influence of abundant physical training, rather than minor trauma or compression at sites of entrapment of peripheral nerves.
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PMID:Hereditary neuropathy with liability to pressure palsies in childhood: report of a case and a brief review. 1566 57

Hereditary neuropathy with liability to pressure palsy (HNPP) is a rare neurological genetic disease caused by deletion of the peripheral myelin protein 22 gene and presents in childhood or young adulthood. We report four cases of HNPP with typical and rare presentations, reflecting the broad clinical spectrum of this disease. Two patients presented with mononeuropathies that are frequently observed in HNPP; the remaining two presented with bilateral neuropathy or mononeuropathy anatomically present in the deep layer. This reflects the broad clinical presentation of HNPP, and clinicians should differentiate these conditions in young patients with monoparesis or bilateral paresis. Although HNPP is currently untreatable, early diagnosis in the emergency department can lead to early detection, eventually resulting in less provocation and recurrence which may cause early motor nerve degeneration.
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PMID:Clinical characteristics of hereditary neuropathy with liability to pressure palsy presenting with monoparesis in the emergency department. 3289 Oct 78