Publication: Doss Porphyria (δ-Aminolevulinic Acid Dehydratase Porphyria) Presenting with Acute Onset Flaccid Paralysis
Date
2015
Article Type
Case Report
Journal Title
Journal ISSN
ISSN 1990-7974 eISSN 1990-7982
Volume Title
Pages
Pages: 280 - 282
Publisher
Nepal Paediatric Society (JNPS)
Abstract
Abstract:
δ–Aminolevulinic acid dehydratase porphyria is an autosomal recessive disorder of heme synthesis resulting from deficiency of δ-aminolevulinic acid dehydratase (ALAD). Patients present with fatal neurovisceral manifestations and motor neuropathy. Here we report a patient with rapidly progressive flaccid tetraplegia with respiratory and bulbar paralysis. The importance of early diagnosis, prompt treatment and screening of relatives is stressed.
Description
Sandip Kumar Singh
Department of Paediatrics, Manipal Teaching Hospital, Fulbari, Pokhara
Eva Gauchan
Department of Paediatrics, Manipal Teaching Hospital, Fulbari, Pokhara
Deepak Prasad Koirala
Department of Paediatrics, Manipal Teaching Hospital, Fulbari, Pokhara
KS Rao
Department of Paediatrics, Manipal Teaching Hospital, Fulbari, Pokhara
Keywords
Doss porphyrias, flaccid tetraplegia, porphobilinogen, aminolevulinic acid
Identifier
https://doi.org/10.3126/jnps.v35i3.12509