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Título

AROMATIC L-AMINO ACIDS DECARBOXYLASE (AADC) DEFICIENCY: A CASE REPORT

Apresentação do caso

IGSC, 1 year old, with no significant gestational and perinatal history, presented a delay in neuropsychomotor development from 6 months of age. With progressive worsening of the neurological condition, difficulty in swallowing and bronchopulmonary aspiration, he was transferred to Intensive Care Unit in the University Hospital of Londrina, requiring tracheostomy and gastrostomy. Assessed by the Pediatric Neurology department, he had a social smile and eye contact, but was unable to hold his head, trunk, and limbs, with axial and limb hypotonia and diminished myotatic reflexes. He had ocular deviations interpreted as epileptic seizures and therefore was medicated with phenobarbital. Exams: Cranial Magnetic Resonance with small volumetric reduction of the brain, muscle enzymes, Electroencephalogram, Electroneuromyography and Screening for Inborn Errors of Metabolism normal. In view of the normal tests, a genetic panel for neurodevelopmental and movement disorders was requested: alterations were found in the DDC gene chr7:50.476.625 and chr7:50:537.934. and dosage of Aromatic L-amino Acid Decarboxylase 2.59 9 enzyme (36.00-129.00) was decreased, confirming the diagnosis.

Discussão

AADC deficiency (aromatic L-amino acid decarboxylase deficiency) is a very rare disease caused by pathogenic mutations in the DDC gene, which encodes this enzyme for the synthesis of neurotransmitters such as Dopamine, Serotonin, Epinephrine and Norepinephrine. Decreased levels of this enzyme and low levels of these neurotransmitters increase their precursors, causing symptoms. These occur from the third month of life onwards and are variable: hypotonia, movement disorders, delay in neuropsychomotor development, and oculogyrics seizures, often confused with epileptic seizures. There are also changes in mood, sleep, body temperature with excessive sweating, cardiovascular and endocrine function. For diagnosis, with the positivity of at least two tests of the three: increase in cerebrospinal fluid, dosage with decreased AADC enzymatic activity, molecular-genetic analysis with complete sequencing of the DDC gene, diagnosis with two or more pathogenic mutations.

Comentários finais

AADC deficiency is a very rare disease, little known and with different symptoms. The importance of this report is to draw attention to the need for genetic investigation in cases of hypotonia, developmental delay and movement disorders without a clarified etiology, allowing the patient to have an adequate diagnosis and treatment.

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Área

Neurogenética