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Journal of Pediatric Epilepsy 2021; 10(03): 124-127
DOI: 10.1055/s-0041-1723768
Case Report

Atypical Presentation of Aromatic L-Amino Acid Decarboxylase Deficiency with Developmental Epileptic Encephalopathy

Francesca Marchese 
1   Pediatric Neurology and Muscular Diseases Unit, IRCCS ‘G. Gaslini’ Institute, Genoa, Italy
,
Elena Faedo
2   Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy
,
Maria Stella Vari 
1   Pediatric Neurology and Muscular Diseases Unit, IRCCS ‘G. Gaslini’ Institute, Genoa, Italy
,
Patrizia Bergonzini
3   Department of Pediatrics, Ospedale Policlinico, University of Modena, Modena, Italy
,
Michele Iacomino 
4   Human Genetics Unit, IRCCS ‘G. Gaslini’ Institute, Genoa, Italy
,
Azzurra Guerra
3   Department of Pediatrics, Ospedale Policlinico, University of Modena, Modena, Italy
,
Laura Franceschetti 
5   PTC Therapeutics, Roma, RM, Italy
,
Alessandra Baroni
5   PTC Therapeutics, Roma, RM, Italy
,
Paolo Scudieri
2   Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy
4   Human Genetics Unit, IRCCS ‘G. Gaslini’ Institute, Genoa, Italy
,
Carlo Minetti 
1   Pediatric Neurology and Muscular Diseases Unit, IRCCS ‘G. Gaslini’ Institute, Genoa, Italy
2   Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy
,
Pasquale Striano 
1   Pediatric Neurology and Muscular Diseases Unit, IRCCS ‘G. Gaslini’ Institute, Genoa, Italy
2   Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy
› Author Affiliations Funding None.
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Abstract

Aromatic L-amino acid decarboxylase (AADC) deficiency is an autosomal recessive metabolic disorder resulting from disease-causing pathogenic variants of the dopa decarboxylase (DDC) gene. The neurological features of AADC deficiency include early-onset hypotonia, oculogyric crises, ptosis, dystonia, hypokinesia, impaired development, and autonomic dysfunction. In this article, we reported a patient with genetically confirmed AADC deficiency presenting with developmental epileptic encephalopathy (DEE). Our patient was a boy with severe intractable epileptic spasms and DEE. The patient was evaluated for cognitive and neurologic impairment. Exome sequencing revealed a homozygous mutation (NM_000790.4:c.121C > A; p.Leu41Met) in the DDC gene. This case expands the clinical spectrum of AADC deficiency and strengthens the association between dopa decarboxylase deficiency and epilepsy. Additional studies are warranted to clarify the mechanisms linking dopa decarboxylase dysfunction to DEE.

Keywords

epileptic spasms - developmental epileptic encephalopathy - AADC deficiency - dopa decarboxylase - DDC gene


Publication History

Received: 18 August 2020

Accepted: 22 December 2020

Article published online:
09 February 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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