Phenotypic Variability Leads to Under-recognition of HNPP

Kumar, Neeraj; Muley, Suraj; Pakiam, Anthony S.-I.; Parry, Gareth

doi:10.1097/00131402-200203000-00002

Cited by 20 publications

(10 citation statements)

References 39 publications

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“…In our cohort 100% of cases with median nerve studies met criteria for electrophysiological median nerve demyelination at the carpal tunnel and this was bilateral in 70% of cases, but only one patient was symptomatic. A finding of segmental demyelination of another common site of entrapment should raise the suspicion for HNPP [3,25]. This particular association of bilateral carpal tunnel with other segmental demyelinations is almost a hallmark of asymptomatic HNPP in children and teenagers.…”

Section: Discussionmentioning

confidence: 99%

Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update

Chrestian

McMillan

Poulin

et al. 2015

Neuromuscular Disorders

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Section: Discussionmentioning

confidence: 99%

Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update

Chrestian

McMillan

Poulin

et al. 2015

Neuromuscular Disorders

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“…Hereditary neuropathy with liability to pressure palsies is a generalised demyelinating neuropathy first described by de Jong in 1947 [8]. It is an autosomal dominant condition commonly due to deletion of the 1.5 Megabase tract on chromosome 17p11, encoding the peripheral myelin protein 22 (PMP22) [9].…”

Section: Discussionmentioning

confidence: 99%

“…Clinically, HNPP is characterised by recurrent, painless, monofocal palsies typically occurring at anatomically vulnerable sites of compression such as the median nerve at the wrist, the ulnar nerve at the elbow and the peroneal nerve at the fibular neck [9]. Other manifestations of HNPP reported in the literature include facial nerve paralysis [10], isolated recurrent laryngeal nerve paralysis [11], respiratory insufficiency [12], Erb's palsy in a toddler [13], hypoglossal neuropathy [14] and bilateral radial nerve neuropathy during childbirth [15].…”

Section: Discussionmentioning

confidence: 99%

“…These episodes are often precipitated by seemingly innocuous compressive forces and the symptoms usually improve within days or weeks. Onset of symptoms are usually during the second and the third decades but the lack of distinctive clinical signs, phenotypic variability and transient nature of symptoms, frequently results in delayed or missed diagnosis [9].…”

Section: Discussionmentioning

confidence: 99%

“…The incidence of HNPP has been estimated to be 16 in 100 000 [9]. This is likely to be an underestimate due to the insidious nature of the disease and the many mildly affected individuals who go undiagnosed.…”

Section: Discussionmentioning

confidence: 99%

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Hereditary neuropathy with liability to pressure palsies and anaesthesia: peri‐operative nerve injury

2006

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A 43-year-old female with carcinoma of the left breast underwent wide local excision of the tumour and sentinel lymph node biopsy under general anaesthesia. Three lymph nodes were removed uneventfully during the operation. Postoperatively, the patient complained of weakness and decreased sensation of her left arm. A diagnosis of peri-operative neuropraxia was made. This resolved completely over the following 4 weeks. Genetic testing confirmed a diagnosis of hereditary neuropathy with liability to pressure palsies. Peripheral nerve injury during anaesthesia is one of the most common complications, with a quoted incidence of 0.4% [1]. It may be associated with poor intra-operative positioning and patients most at risk are those with preexisting neuropathy (e.g. diabetes) and certain anatomical and metabolic disorders. We report a case of transient, postoperative high left radial nerve palsy (neuropraxia) due to hereditary neuropathy with liability to pressure palsies (HNPP). There are no published reports of a similar case where a peri-operative peripheral nerve injury has shown to be associated with HNPP. Case historyA 43-year-old female was diagnosed with carcinoma of the left breast. She was admitted for wide local excision of the tumour and axillary sentinel node biopsy using both radionuclide and Patent Blue V dye techniques. The patient was medically well and had been taking tamoxifen 20 mg daily for 2 weeks before the operation. She reported an intolerance to alcohol which caused facial flushing and palpitations. No other anaesthetic risk factors were identified from the history or clinical examination.After insertion of a 22-gauge intravenous cannula on the dorsum of the right hand, anaesthesia was induced using fentanyl citrate 100 lg and propofol 300 mg. A laryngeal mask airway was inserted. Anaesthesia was maintained with a mixture of 50% nitrous oxide in oxygen and a 1-2% inhaled concentration of isoflurane. The patient maintained spontaneous respiration throughout the operation. During the procedure, morphine sulphate 5 mg and granisetron hydrochloride 1 mg were given. The patient was placed in the supine position with her left arm abducted to 90°on an arm board. Gel pads were used judiciously to protect common nerve compression sites. The left arm was wrapped in sterile surgical towels to allow the surgeon to move the arm during the course of the operation. A breast specimen of 76 g was removed from the upper central portion of the left breast and three axillary lymph nodes were removed. No neurological structures were noted by the surgeon during the procedure and there was no direct injury to the brachial plexus. The procedure was completed within 75 min.Immediately after the operation, the patient complained of numbness and generalised weakness of her left arm. She was unable to raise her arm to her face. A good vascular supply was confirmed by strong peripheral pulses.Four days after the operation she continued to complain of residual elbow and forearm numbness with weakness in flexion of her elbo...

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Pain in hereditary neuropathy with liability to pressure palsy: An association with fibromyalgia syndrome?

et al. 2015

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Phenotypic Variability Leads to Under-recognition of HNPP

Cited by 20 publications

References 39 publications

Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update

Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update

Hereditary neuropathy with liability to pressure palsies and anaesthesia: peri‐operative nerve injury

Pain in hereditary neuropathy with liability to pressure palsy: An association with fibromyalgia syndrome?

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