Elsevier

Journal of the Neurological Sciences

Volume 379, 15 August 2017, Pages 296-297
Journal of the Neurological Sciences

Letter to the Editor
Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport disease

https://doi.org/10.1016/j.jns.2017.06.034Get rights and content

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Case report

The 7-year-old female index case is the tenth child of a consanguineous couple of Iraqi origin (IV-10; Fig. 1A). The girl was referred to neuropediatric examination at the age of four months because of frequent daily episodes of eye movement deviations and muscular hypotonia. At the age of 4 years, she presented with persistent oculogyric crises and dystonic posture (Fig. 1B), truncal hypotonia, rigidity of her limbs to passive movements, eye lid myoclonus elicited by excitement, episodes of

Discussion

The family presented here highlights the importance of considering SLC18A2-associated transportopathy as differential diagnosis for suspected monoamine neurotransmitter disorders [4] even if their metabolites and precursors in CSF are normal. In accordance with Jacobsen and coworkers [2], our data demonstrate that extremely low blood serotonin levels and a slightly lowered ratio of HVA:5-HIAA appear to be a diagnostic marker for SLC18A2-associated disease. Our experience also supports the

Conflicts of interest

None.

Funding

This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

Patient consent

The authors obtained informed consent of the patient's parents for publication including the photographs.

Acknowledgements

We thank the patient and her family for granting permission to publish this information. Katrin Hinderhofer, PhD; Institute of Human Genetics, Heidelberg University, is thanked for providing archived DNA.

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