Clinical presentation of acute intermittent porphyria before puberty is unusual. We diagnosed the non-erythroid variant form of this disease in a male child, who first presented, at the age of 6 years, with unexplained neurological symptoms and behavioural abnormalities. We also report the successful treatment, and the long-term clinical management.
Acute Intermittent Porphyria in a Child with Severe Neuropathy / Di Pierro, Elena; Granata, Francesca; Rosafio, Cristiano; Marchini, Stefano; Guerra, Azzurra; Brancaleoni, Valentina; Iughetti, Lorenzo; Ventura, Paolo. - In: JOURNAL OF BLOOD & LYMPH. - ISSN 2165-7831. - 8:1(2017), pp. 1-5. [10.4172/2165-7831.1000195]
Acute Intermittent Porphyria in a Child with Severe Neuropathy
Cristiano RosafioConceptualization
;Stefano MarchiniFormal Analysis
;Lorenzo IughettiSupervision
;Paolo Ventura
Writing – Original Draft Preparation
2017
Abstract
Clinical presentation of acute intermittent porphyria before puberty is unusual. We diagnosed the non-erythroid variant form of this disease in a male child, who first presented, at the age of 6 years, with unexplained neurological symptoms and behavioural abnormalities. We also report the successful treatment, and the long-term clinical management.
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