The Neurological Manifestations of Porphyria

Becker, David M.; Kramer, S. D.

doi:10.1097/00005792-197709000-00003

Cited by 98 publications

(30 citation statements)

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“…[1] The older literature on the neurological manifestations of AIP tends to emphasise the classic triad of abdominal pain, neuropathy and psychosis. [2,3] Autonomic nervous involvement may manifest with tachycardia, fluctuating blood pressure and abdominal pain secondary to ileus. [1] The neuropathy usually follows a few days later, with maximum deficit typically reached over 1 month.…”

Section: Discussionmentioning

confidence: 99%

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: Discussionmentioning

confidence: 99%

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

et al. 2014

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“…Medical conditions associated with porphyrias vary depending on which enzyme in the biosynthetic pathway is deficient. Porphyrias associated with coproporphyrinogen III oxidase and protoporphyrinogen oxidase are the most likely to display neurological symptoms [119]. Interestingly, no research has been conducted into the possible correlation between this decreased TSPO density in aggressive schizophrenic patients and the manifestation of a porphyria.…”

Section: ■ the Situation In Plantsmentioning

confidence: 99%

The Translocator Protein as a Potential Molecular Target for Improved Treatment Efficacy in Photodynamic Therapy

Rogers

Senge

2014

Future Med. Chem.

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Since it's serendipitous discovery by researchers over thirty years ago, the translocator protein (18 kDa) (TSPO) has been demonstrated to play an important role in a multitude of critical biological processes. Although implemented as a novel therapeutic and diagnostic tool for a variety of disease states, its most promising role is as a molecular target for anti-cancer treatments such as photodynamic therapy (PDT). This review gives an overview of the attempts made by researchers to design porphyrin based photosensitizers for use as anti-cancer therapeutics in PDT as well as improved imaging agents for diagnostic purposes. With a better understanding of the structure and function of the TSPO, the synthesis of porphyrins for use in PDT with optimum binding affinities will become ever more possible.

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“…Pathologically, both demyelination and axonal degeneration have been described in peripheral nerves and autonomic nervous tissue, and, less extensively, in the CNS. 4 The peripheral neuropathy which occurs is predominantly motor (distal weakness and respiratory muscle paralysis) and may also affect the cranial nerves (bulbar paralysis). The autonomic neuropathy may result in labile blood pressure, orthostatic hypotension, vasospasm and diaphoresis, and the severe abdominal pain which is the hallmark of the acute attack.…”

Section: Pathogenesis Of Porphyriamentioning

confidence: 99%

“…Central nervous system involvement may present as seizure activity, depression or as an acute organic brain syndrome (confusion, delusions and hallucinations). [4][5][6][7] …”

Section: Pathogenesis Of Porphyriamentioning

confidence: 99%