Literature DB >> 3598106

Juvenile acute intermittent porphyria with hypercholesterolemia and epilepsy: a case report and review of the literature.

P W Kaplan, D V Lewis.   

Abstract

A case of acute intermittent porphyria in a 10-year-old boy with seizures and hypercholesterolemia is presented. The problems of management when seizures and porphyria coincide and discussion of hypercholesterolemia are included. A comprehensive review of the world literature reveals that prepubertal patients with acute intermittent porphyria are predominantly male and show an increased incidence of seizures when compared to older age groups. The principal clinical features in all age groups include abdominal pain, vomiting, fever, and tachycardia in addition to mental changes, limb paresis, and hyporeflexia.

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Year:  1986        PMID: 3598106     DOI: 10.1177/088307388600100106

Source DB:  PubMed          Journal:  J Child Neurol        ISSN: 0883-0738            Impact factor:   1.987


  6 in total

Review 1.  Electroencephalography of encephalopathy in patients with endocrine and metabolic disorders.

Authors:  Roland Faigle; Raoul Sutter; Peter W Kaplan
Journal:  J Clin Neurophysiol       Date:  2013-10       Impact factor: 2.177

2.  A retrospective study of a patient with homozygous form of acute intermittent porphyria.

Authors:  G J Beukeveld; B G Wolthers; Y Nordmann; J C Deybach; B Grandchamp; S K Wadman
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

Review 3.  Acute Intermittent Porphyria in children: A case report and review of the literature.

Authors:  Manisha Balwani; Preeti Singh; Anju Seth; Ekta Malik Debnath; Hetanshi Naik; Dana Doheny; Brenden Chen; Makiko Yasuda; Robert J Desnick
Journal:  Mol Genet Metab       Date:  2016-10-15       Impact factor: 4.797

4.  Paediatric porphyria and human hemin: a treatment challenge in a lower middle income country.

Authors:  Syeda Anum Fatima; Humaira Jurair; Qalab Abbas; Arshalooz Jamila Rehman
Journal:  BMJ Case Rep       Date:  2020-01-08

Review 5.  Challenges in diagnosis and management of acute hepatic porphyrias: from an uncommon pediatric onset to innovative treatments and perspectives.

Authors:  Matteo Marcacci; Andrea Ricci; Chiara Cuoghi; Stefano Marchini; Antonello Pietrangelo; Paolo Ventura
Journal:  Orphanet J Rare Dis       Date:  2022-04-07       Impact factor: 4.123

6.  Acute Intermittent Porphyria in Prepubertal Child-diagnostic and Therapeutic Challenges in India: A Case Report and Literature Review.

Authors:  Ankita Goel Sharma; Kaveri Pandit; Shalu Gupta; Virendra Kumar
Journal:  Indian J Crit Care Med       Date:  2022-03
  6 in total

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