Doss Porphyria (δ-Aminolevulinic Acid Dehydratase Porphyria) Presenting with Acute Onset Flaccid Paralysis

Authors

  • 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

DOI:

https://doi.org/10.3126/jnps.v35i3.12509

Keywords:

Doss porphyrias, flaccid tetraplegia, porphobilinogen, aminolevulinic acid

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.

J Nepal Paediatr Soc 2015;35(3):280-282

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Author Biographies

Sandip Kumar Singh, Department of Paediatrics, Manipal Teaching Hospital, Fulbari, Pokhara

Resident

Eva Gauchan, Department of Paediatrics, Manipal Teaching Hospital, Fulbari, Pokhara

Assistant Professor

Deepak Prasad Koirala, Department of Paediatrics, Manipal Teaching Hospital, Fulbari, Pokhara

Assistant Professor

KS Rao, Department of Paediatrics, Manipal Teaching Hospital, Fulbari, Pokhara

Professor and HOD

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Published

2016-06-02

How to Cite

Singh, S. K., Gauchan, E., Koirala, D. P., & Rao, K. (2016). Doss Porphyria (δ-Aminolevulinic Acid Dehydratase Porphyria) Presenting with Acute Onset Flaccid Paralysis. Journal of Nepal Paediatric Society, 35(3), 280–282. https://doi.org/10.3126/jnps.v35i3.12509

Issue

Vol. 35 No. 3 (2015)

Section

Brief Reports/Case Reports/Case Series

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