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

Francesca Marchese; Elena Faedo; Maria Stella Vari; Patrizia Bergonzini; Michele Iacomino; Azzurra Guerra; Laura Franceschetti; Alessandra Baroni; Paolo Scudieri; Carlo Minetti; Pasquale Striano

doi:10.1055/s-0041-1723768

Journal of Pediatric Epilepsy, Table of Contents

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

Authors

Francesca Marchese

¹Pediatric Neurology and Muscular Diseases Unit, IRCCS ‘G. Gaslini’ Institute, Genoa, Italy
Elena Faedo

²Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy
Maria Stella Vari

¹Pediatric Neurology and Muscular Diseases Unit, IRCCS ‘G. Gaslini’ Institute, Genoa, Italy
Patrizia Bergonzini

³Department of Pediatrics, Ospedale Policlinico, University of Modena, Modena, Italy
Michele Iacomino

⁴Human Genetics Unit, IRCCS ‘G. Gaslini’ Institute, Genoa, Italy
Azzurra Guerra

³Department of Pediatrics, Ospedale Policlinico, University of Modena, Modena, Italy
Laura Franceschetti

⁵PTC Therapeutics, Roma, RM, Italy
Alessandra Baroni

⁵PTC Therapeutics, Roma, RM, Italy
Paolo Scudieri

²Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy

⁴Human Genetics Unit, IRCCS ‘G. Gaslini’ Institute, Genoa, Italy
Carlo Minetti

¹Pediatric Neurology and Muscular Diseases Unit, IRCCS ‘G. Gaslini’ Institute, Genoa, Italy

²Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy
Pasquale Striano

¹Pediatric Neurology and Muscular Diseases Unit, IRCCS ‘G. Gaslini’ Institute, Genoa, Italy

²Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy

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

Full Text

References

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