Signs of neuropathy in the lower legs and feet of patients with acute intermittent porphyria

Wikberg, Agneta; Andersson, Carina; Lithner, Folke

doi:10.1046/j.1365-2796.2000.00697.x

Cited by 34 publications

(16 citation statements)

References 17 publications

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“…[1] Reports have documented gradual improvement of muscle strength over months [4] to years, but up to 50% of patients may have residual weakness [5] and 4% remain quadriparetic. [6] However, fairly rapid improvement on haem arginate, similar to that which our patient experienced, has been observed in several cases. [7,8] The dramatic clinical recovery observed in our patient's proximal muscles over a few days argues for a substantial contribution from neural dysfunction rather than neural degeneration.…”

Section: Discussionsupporting

confidence: 86%

Acute intermittent porphyria presenting as progressive muscular atrophy in a young black man

et al. 2014

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Acute intermittent porphyria (AIP), the most common porphyria affecting the nervous system, typically presents with neurovisceral crises followed by a motor neuropathy. We describe an unusual presentation in a young man with molecularly confirmed AIP. Case presentationA 23-year-old university student was referred to Groote Schuur Hospital, Cape Town, South Africa, with suspected motor neuron disease. Over the preceding year he had noticed insidious progressive weakness of both upper limbs. Initially, the weakness affected grip strength bilaterally, but within 9 months progressed to also involve proximal arm function. Ten months after onset, he developed profound leg weakness over a period of days, rendering him unable to walk without support. He had no bowel or bladder sphincter involvement and no bulbar symptoms, but complained of a weak cough. He had not experienced any neuropsychiatric symptoms or abdominal pain.Examination showed a thin and wasted man with marked amyotrophy involving all four limbs, both proximally and distally (Fig. 1). He was bed-bound, and unable to turn in bed, feed or dress himself. He had mild symmetrical facial weakness and a weak cough with a reduced vital capacity (<80% of expected). He had truncal weakness and a flaccid quadriparesis, but no fasciculations were noted: upper limb strength Medical Research Council (MRC) grade 1/5 proximal, 2/5 distal; lower limb strength 2/5 proximal, 3/5 distal. He was areflexic in the legs with either hyporeflexia (biceps and supinator reflexes) or areflexia (triceps reflexes) in the arms. Findings on sensory examination were normal apart from a patch of reduced sensibility for pinprick and touch over the left anteromedial thigh region. CLINICAL Corresponding author: C H Albertyn (christine.albertyn@uct.ac.za)Acute intermittent porphyria, the most common porphyria affecting the nervous system, typically presents with neurovisceral crises followed by a motor neuropathy. We describe a 23-year-old black South African man presenting with a progressive stuttering, lower motor neuron syndrome developing over months. He had not experienced pain or neuropsychiatric symptoms. One year after symptom onset he was bed-bound with a flaccid quadriparesis. There was marked amyotrophy, but without fasciculations. Sensation was intact apart from a hypo-aesthetic patch over the thigh. Electrophysiological investigations showed an active motor axonopathy. Urinary porphyrins, δ-aminolaevulinic acid and porphobilinogen were elevated. Mutation analysis revealed the c445C>T (R149X) mutation in the porphobilinogen deaminase gene. The patient responded dramatically to haem arginate and could walk with assistance 2 weeks later. We identified the first molecularly confirmed acute intermittent porphyria in a black South African. The clinical presentation mimicked a progressive lower motor neuron syndrome.

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Section: Discussionsupporting

confidence: 86%

Acute intermittent porphyria presenting as progressive muscular atrophy in a young black man

et al. 2014

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“…Slight peripheral neuropathy with reduced conduction velocity of the motor and sensory fibres has been reported years after recovery from attacks and even by AIP patients who never had attacks [20,21]. Signs of distal chronic symmetrical sensory and motor neuropathy have been reported by patients with manifested AIP [6]. Behavioural, structural and electrophysiological data in PBGD deficient mice are evidence of predominantly axonal motor neuropathy, most likely caused by haeme deficiency and consequent dysfunction of haeme proteins in the nerve cells [21].…”

Section: Discussionmentioning

confidence: 99%

“…The incidence of these symptoms is 45–70% whereas the incidence of muscle weakness and paresis is 40–60% as reported in five large series from 1957 to 1976 [3]. Grave paresis seems to be uncommon nowadays, probably because of awareness of and avoidance of precipitating factors and thanks to the use of specific haeme therapy [6–8]. The cause of the neurological dysfunction in AIP is not known.…”

Section: Introductionmentioning

confidence: 99%

Atypical attack of acute intermittent porphyria – paresis but no abdominal pain

Andersson

Nilsson²,

Bäckström

2002

Journal of Internal Medicine

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Abstract. Andersson C, Nilsson A, Bäckström T (University Hospital, Umeå, Sweden; and Primary Health Care Centre, Arvidsjaur). Atypical attack of acute intermittent porphyria -paresis but no abdominal pain (Case report). J Intern Med 2002; 252: 265-270.We report a case of acute intermittent porphyria (AIP) in a 45-year-old woman. Her first attack occurred at the age of 38. Because of escalating cyclical premenstrual attacks, the following 2 years, depletion of the endogenous sex hormone was considered as haeme arginate treatment proved insufficient. Gonadotropin releasing hormone agonist treatment with low-dose oestradiol add back was quite successful initially but was abandoned after 18 months when progesterone add back precipitated a severe attack. Following hysterectomy and oophorectomy at age 42 and oestradiol add back, a remarkable monthly regularity of attacks ensured periodically but with milder symptoms. Two years after surgery, preceded by six attack-free months, a puzzling symptom-shift occurred, from abdominal pain, back and thigh pain during the attacks, to solely severe distal extensor paresis in the arms. Haeme arginate treatment interrupted the progress of the paresis almost immediately and motor function improved considerably up to the 9-month follow-up. Electrophysiological examination revealed only motor neuropathy, consistent with axonal degeneration. Subsequently the symptoms changed yet again, to sensory disturbances with numbness and dysesthesia as the primary expression followed by rather mild abdominal pain. However, cyclical attacks occurred, despite absence of endogenous ovarial hormone production, possibly attributable to impaired oestrogen metabolism in the liver, or adrenal oestrogen production. Treatment comprising oophorectomy, low-dose oestradiol add back and haeme arginate infusion for 2 days on the appearance of early AIP symptoms is now quite successful affording improvement in life quality.

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“…As mentioned, the degree of axonal damage probably pre dicts the ultimate prognosis and recovery often takes many months with some patients remaining permanently quadriparetic. [4,13] In the SA study that reported on clinical features recorded during 112 acute porphyric attacks, three patients with quadriparesis improved with rehabilitation and eventually regained the ability to walk. In the same study, several other patients with pre-existing neuropathy deteriorated markedly at the onset of a new attack, but the weakness resolved rapidly after haemin administration.…”

Section: Discussionmentioning

confidence: 99%

Severe porphyric neuropathy - importance of screening for porphyria in Guillain-Barré syndrome

et al. 2015

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Signs of neuropathy in the lower legs and feet of patients with acute intermittent porphyria

Cited by 34 publications

References 17 publications

Acute intermittent porphyria presenting as progressive muscular atrophy in a young black man

Acute intermittent porphyria presenting as progressive muscular atrophy in a young black man

Atypical attack of acute intermittent porphyria – paresis but no abdominal pain

Severe porphyric neuropathy - importance of screening for porphyria in Guillain-Barré syndrome

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