Neuropediatrics 2017; 48(01): 049-052
DOI: 10.1055/s-0036-1593372
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

Hereditary Dopamine Transporter Deficiency Syndrome: Challenges in Diagnosis and Treatment

Yilmaz Yildiz
1   Department of Pediatric Metabolism, Hacettepe University Ihsan Dogramaci Children's Hospital, Ankara, Turkey
,
Emine Pektas
1   Department of Pediatric Metabolism, Hacettepe University Ihsan Dogramaci Children's Hospital, Ankara, Turkey
,
Aysegul Tokatli
1   Department of Pediatric Metabolism, Hacettepe University Ihsan Dogramaci Children's Hospital, Ankara, Turkey
,
Goknur Haliloglu
2   Department of Pediatric Neurology, Hacettepe University Ihsan Dogramaci Children's Hospital, Ankara, Turkey
› Author Affiliations
Further Information

Publication History

19 June 2016

30 July 2016

Publication Date:
30 September 2016 (online)

Abstract

Hereditary dopamine transporter deficiency syndrome (DTDS) is a neurotransmitter disorder caused by a defect in the neuronal uptake of dopamine. To date, 20 patients are reported in the literature, and we present 2 additional patients with DTDS harboring novel homozygous SLC6A3 gene mutations. Patient A is an 8-month-old male with neonatal-onset hypotonia, who developed orolingual dyskinetic movements and oculogyric crises after 4 months of age, with evolution to status dystonicus episodes. Patient B is a 4-year-old male who also had hypotonia since birth, with additional severe limb contractions and oculogyric crises after the age of 3 months, with a misdiagnosis of epileptic encephalopathy. Both patients had consanguineous parents and similar cerebrospinal fluid (CSF) neurotransmitter profiles with elevated homovanillic acid and increased the ratio of homovanillic acid to 5-hydroxyindoleacetic acid. Diagnostic delay is 4 months, and 3 years 9 months, respectively. Treatment response to levodopa is poor. Early infantile-onset progressive dystonia with oculogyric crises, hypotonia, developmental delay, and CSF neurotransmitter profile led to a diagnosis of DTDS in these two patients. Management of hyperkinetic movement disorder, status dystonicus, and feeding difficulties are challenging. Detailed phenotyping of individual patients along with treatment response should provide insight into dopamine homeostasis.

 
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