Letter to the EditorExome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport disease
Section snippets
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.
References (5)
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Brain dopamine-serotonin vesicular transport disease and its treatment
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