Format

Send to

Choose Destination
J Child Neurol. 2014 Nov;29(11):NP135-8. doi: 10.1177/0883073813512025. Epub 2014 Jan 5.

N-acetylcysteine for neuropsychiatric symptoms in a woman with Williams syndrome.

Author information

1
Geisel School of Medicine at Dartmouth, Lebanon, NH, USA.
2
Coorparoo, Queensland, Australia.
3
Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.
4
Lurie Center for Autism, Massachusetts General Hospital, Lexington, MA, USA.
5
Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA Harvard Medical School, Boston, MA, USA Department of Medical Sciences, Netter School of Medicine, Quinnipiac University, Middletown, CT, USA.
6
Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA Lurie Center for Autism, Massachusetts General Hospital, Lexington, MA, USA Harvard Medical School, Boston, MA, USA Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA cmcdougle@partners.org.

Abstract

Williams syndrome is a relatively rare genetic disorder caused by the hemizygous microdeletion of a region in chromosome 7q11.23. Individuals with Williams syndrome typically present with a highly social, overfriendly, and empathic personality. Comorbid medical and neuropsychiatric disorders are common. Reports of effective pharmacological treatment of associated neuropsychiatric disorders are limited. The authors describe the successful treatment of interfering anger, aggression, and hair-pulling with N-acetylcysteine in a 19-year-old woman with Williams syndrome. The neuropsychiatric symptoms emerged 1 week following an upper gastrointestinal endoscopy, for which fentanyl, midazolam, and propofol were used as anesthetics. The patient's treatment course and hypothesized mechanisms underlying the clinical presentation and symptom resolution are described.

KEYWORDS:

N-acetylcysteine; Williams syndrome; behavior; glutamate; neuropsychiatric

PMID:
24396132
DOI:
10.1177/0883073813512025
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Atypon
Loading ...
Support Center