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1.
J Child Adolesc Psychopharmacol ; 18(5): 533-6, 2008 Oct.
Article in English | MEDLINE | ID: mdl-18928419

ABSTRACT

Trichotillomania (TTM) is a commonly undiagnosed psychiatric illness with known medical complications whose symptoms interfere markedly with daily functioning. Studies regarding the pharmacological treatment of TTM in the adult or pediatric population are sparse, and there is a lack of consensus on drug treatment for TTM. The current trend is to use selective serotonin reuptake inhibitors (SSRIs) on the basis of the current hypothesis that TTM may be a part of the obsessive compulsive spectrum of disorders. However, attempts to substantiate the efficacy of SSRI use in TTM has produced conflicting results. There is increasing evidence that mood stabilizers decrease symptoms of TTM. We present the case of a 10-year-old girl whose lifelong hair-plucking symptoms showed remarkable sustained improvement in response to increased levels of valproic acid. This report, the first with valproic acid, indicates that this drug is potentially effective in significantly reducing symptoms of TTM in a sustained manner. This single case report calls for further investigation regarding the utility of valproic acid in the treatment of TTM.


Subject(s)
Anticonvulsants/therapeutic use , Trichotillomania/drug therapy , Valproic Acid/therapeutic use , Anticonvulsants/administration & dosage , Antimanic Agents/administration & dosage , Antimanic Agents/therapeutic use , Child , Dose-Response Relationship, Drug , Female , Follow-Up Studies , Humans , Trichotillomania/physiopathology , Valproic Acid/administration & dosage
2.
Am J Med Genet A ; 146A(9): 1166-72, 2008 May 01.
Article in English | MEDLINE | ID: mdl-18302246

ABSTRACT

Human chromosome 8p is prone to recurrent rearrangements with inv dup del(8p) being most common. Each of these recurrent rearrangements is associated with different clinical manifestations. Some of these recurrent rearrangements at 8p are mediated by an 8p submicroscopic paracentric inversion between the olfactory gene clusters present in one of the parents. However, recent reports have shown that some of the rearrangements are unique and complex and are mediated by other repetitive elements within 8p. Here, we report on a unique and complex 8p rearrangement with seizures as the major presenting feature in the patient. Extensive fluorescence in situ hybridization and microarray analyses with tiling path 8p array showed that the rearrangement is unique in that the 8p duplication is a direct tandem duplication and, unlike the more common inv dup del(8p), is not derived from parental submicroscopic inversion. Also unlike the inv dup del(8p), the phenotype in our case is milder with no central nervous system malformations or cardiac defects.


Subject(s)
Chromosome Aberrations , Chromosome Inversion , Chromosomes, Human, Pair 8/genetics , Child, Preschool , Chromosomes, Artificial, Bacterial/genetics , Cytogenetics , Female , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Models, Genetic , Oligonucleotide Array Sequence Analysis , Seizures/genetics
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