Acute Intermittent Porphyria Presenting Solely with Psychosis: A Case Report and Discussion

Kumar, Bharat

doi:10.1016/j.psym.2012.03.008

Cited by 26 publications

(23 citation statements)

References 17 publications

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“…AIP can be misdiagnosed as psychosis, Guillain–Barré syndrome, and chronic hepatitis ( Table 1 ). 5 – 7 The presented patient was misdiagnosed as having cholecystitis, as she presented with severe abdominal pain and gallbladder stones; however, the neuropsychiatric manifestations made the treating physicians rethink about the diagnosis and treatment. To avoid such misdiagnosis in the future, the clinicians should consider the possibility of AIP in any individual presenting with an acute abdomen and neuropsychiatric manifestations.…”

Section: Discussionmentioning

confidence: 99%

Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis

Alfadhel

Saleh

Alenazi

et al. 2014

NDT

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BackgroundAcute intermittent porphyria (AIP) is an autosomal dominant neurovisceral inherited disorder due to a defect in the heme biosynthesis pathway. Misdiagnosis of the porphyrias is not uncommon.Case reportWe present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis.ConclusionClinicians are alerted to consider the possibility of AIP in an adult presenting with an acute abdomen, features of cholecystitis, and neuropsychiatric manifestations.

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Section: Discussionmentioning

confidence: 99%

Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis

Alfadhel

Saleh

Alenazi

et al. 2014

NDT

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“…The involvement of central nervous system may be responsible for seizures and/or mental disturbances (varying from apathy and depression to extreme agitation, mimicking a psychotic attack with hallucinations) [10,11,[59][60][61][62][63].…”

Section: The Acute Porphyric Attack: Clinical Picturesmentioning

confidence: 99%

The Acute Porphyric Attack: A Difficult Diagnosis for a Potential Lethal Event in Emergency Medicine

Ventura¹

2015

ETS

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The porphyrias are a heterogeneous group of metabolic disorders due to an inherited (but in some forms the disturbance may also be acquired) enzymatic deficiency in the metabolic pathway of heme biosynthesis. The variable degree of block in the heme biosynthetic pathway due to the enzyme deficiency results in accumulation of different metabolic intermediates, whose toxicity is responsible for the peculiar (cutaneous and/or neurovisceral) clinical pictures observed in each of these diseases. According to the clinical features, the porphyrias are classified as "acute" (or neuropsychic) [characterized by acute neurovisceral crises (the acute porphyric attack) involving the autonomic and/or central nervous system, but also the liver and the kidney] and "on acute" (or dermatological) (mostly presenting with cutaneous lesions, due to photosensitivity).

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“…La evolución de este grupo de pacientes es tórpida, debido al manejo farmacológico dificultoso que presenta. Se han encontrado 19 casos de porfiria en MEDLINE, donde los síntomas neuropsiquiátricos eran la principal característica de la enfermedad 2,4,7 .…”

Section: Conclusionesunclassified

“…La tríada clásica de dolor abdominal, cambios en el estado mental y neuropatía se da aproximadamente en el 50% de los casos de las porfirias [2][3][4]6,8 .…”

Section: Conclusionesunclassified

La porfiria: no solo la histeria es una gran simuladora

Herrera-Caballero

2014

Psiquiatría Biológica

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Acute Intermittent Porphyria Presenting Solely with Psychosis: A Case Report and Discussion

Cited by 26 publications

References 17 publications

Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis

Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis

The Acute Porphyric Attack: A Difficult Diagnosis for a Potential Lethal Event in Emergency Medicine

La porfiria: no solo la histeria es una gran simuladora

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