Neurological Complications of Acute Intermittent Porphyria

Kuo, Hung‐Chou; Huang, Chin‐Chang; Chu, Chun‐Che; Lee, Ming-Jen; Chuang, Wen-Li; Wu, Chi-Lin; Wu, Tony; Ning, Hsiao-Chen; Liu, Chih-Yang

doi:10.1159/000330683

Cited by 32 publications

(37 citation statements)

References 29 publications

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“…However, a PBGD‐deficient mouse model of AIP neuropathy revealed that afflicted mice develop progressive motor axonopathy, even when ALA levels are normal or only mildly increased . In addition, the findings of our previous study suggested that there is no correlation between the severity of neurological manifestations and urinary ALA and porphobilinogen levels . Frequent exposure to neurotoxicity and the accumulation of porphyrin precursors in the nervous system may be related to the severity of the neurological porphyria.…”

Section: Discussionmentioning

confidence: 59%

Porphyric neuropathies in an acute intermittent porphyria family

Kuo

Jung

et al. 2015

Neuropathology

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The objective of this study was to investigate two patients with porphyric neuropathy in a family with acute intermittent porphyria. Molecular analysis of the porphobilinogen deaminase (PBGD) gene was performed. We analyzed the clinical course of peripheral neuropathy and serial changes in nerve conduction studies (NCS) of the two patients. We also examined the pathological findings of sural nerve biopsy in one patient. Molecular analysis of the PBGD gene revealed a missense mutation (Arg26His) in exon 2 for two patients and their family members. Distal polyneuropathy was noted in the patients with chronic porphyric neuropathy. In the follow-up NCS, recovery was relatively poor in the lower limb in one patient with severe polyneuropathy, and NCS evidence of deterioration was found following frequent hormone-related porphyric attacks in another patient. The sural nerve biopsy showed marked loss of myelinated and unmyelinated fibers in one patient with chronic porphyric neuropathy. In contrast to radial and fibular motor nerves in acute porphyric neuropathy, the sural nerve is vulnerable to involvement in chronic porphyric neuropathy following repeated porphyric attack as seen in the NCS.

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Section: Discussionmentioning

confidence: 59%

Porphyric neuropathies in an acute intermittent porphyria family

Kuo

Jung

et al. 2015

Neuropathology

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“…and Black et al . [15,19] described MR patterns ranging from mild ischemic area up to reversible lesions [20, 21]. Important brain perfusion defects in AIP have been recently described by SPECT by Totaro et al .…”

Section: Discussionmentioning

confidence: 99%

Cerebral Hypoperfusion in Hereditary Coproporphyria (HCP): A Single Photon Emission Computed Tomography (SPECT) Study

Valle

Guida

Nasuto

et al. 2016

EMIDDT

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Background: Hereditary Coproporphyria (HCP) is characterized by abdominal pain, neurologic symptoms and psychiatric disorders, even if it might remain asymptomatic. The pathophysiology of both neurologic and psychiatric symptoms is not fully understood. Therefore, aiming to evaluate a possible role of brain blood flow disorders, we have retrospectively investigated cerebral perfusion patterns in Single Photon Emission Computed Tomography (SPECT) studies in HCP patients.Materials & Methods: We retrospectively evaluated the medical records of patients diagnosed as being affected by HCP. A total of seven HCP patients had been submitted to brain perfusion SPECT study with 99mTc-Exametazime (hexamethylpropyleneamine oxime, HMPAO) or with its functionally equivalent 99mTc-Bicisate (ECD or Neurolite) according with common procedures. In 3 patients the scintigraphic study had been repeated for a second time after the first evaluation at 3, 10 and 20 months, respectively. All the studied subjects had been also submitted to an electromyographic and a Magnetic Resonance Imaging (MRI) study of the brain.Results: Mild to moderate perfusion defects were detected in temporal lobes (all 7 patients), frontal lobes (6 patients) and parietal lobes (4 patients). Occipital lobe, basal ganglia and cerebellar involvement were never observed. In the three subjects in which SPECT study was repeated, some recovery of hypo-perfused areas and appearance of new perfusion defects in other brain regions have been found. In all patients electromyography resulted normal and MRI detected few unspecific gliotic lesions only in one patient.Discussion & Conclusions: Since perfusion abnormalities were usually mild to moderate, this can probably explain the normal pattern observed at MRI studies. Compared to MRI, SPECT with 99mTc showed higher sensitivity in HCP patients. Changes observed in HCP patients who had more than one study suggest that transient perfusion defects might be due to a brain artery spasm possibly leading to psychiatric and neurologic symptomatology, as already observed in patients affected by acute intermittent porphyria. This observation, if confirmed by other well designed studies aiming to demonstrate a direct link between artery spasm, perfusion defects and related symptoms could lead to improvements in HCP treatments.

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“…These classically present with a neurological complaint [15, 16]. Peripheral neuropathy is the most common central nervous system manifestation.…”

Section: Discussionmentioning

confidence: 99%

Clinical Manifestations and Diagnostic Challenges in Acute Porphyrias

Trier

Krishnasamy

Kasi

2013

Case Reports in Hematology

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The porphyrias are a group of disorders characterized by an enzyme deficiency in the heme biosynthetic pathway. These can be classified into either erythropoietic or hepatic forms depending on the site of the major enzyme deficiency. The diagnosis of acute porphyrias, however, can be very challenging due to overlapping features amongst the various types. Initial suspicion is based on a myriad of clinical manifestations, which then are confirmed by laboratory testing where available. Genetic testing is now also available for the different types of porphyrias, aiding in the definitive diagnosis. Here, we present a challenging case of porphyria in a patient with end-stage renal disease and present the diagnostic challenges associated with the case and the ways forward.

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Neurological Complications of Acute Intermittent Porphyria

Cited by 32 publications

References 29 publications

Porphyric neuropathies in an acute intermittent porphyria family

Porphyric neuropathies in an acute intermittent porphyria family

Cerebral Hypoperfusion in Hereditary Coproporphyria (HCP): A Single Photon Emission Computed Tomography (SPECT) Study

Clinical Manifestations and Diagnostic Challenges in Acute Porphyrias

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