Treatment-resistant self-mutilation, tics, and obsessive-compulsive disorder in neuroacanthocytosis: a mouth guard as a therapeutic approach.

Sir: The term neuroacanthocytosis describes a group of phenotypically and genetically heterogeneous disorders associated with choreatic movements, psychiatric abnormalities, and cognitive decline. 1,2 Patients with neuroacanthocytosis may develop dementia, 3 schizophrenia, 4,5 obsessive-compulsive disorder (OCD), 5,6 tourettism, 7 and self-mutilation. 8 We present the case of a patient with neuroacanthocytosis who developed treatment-resistant oral self-mutilation behaviors, phonic tics, OCD, and a severe lack of initiative (i.e., abulia). This syndrome responded to the regular use of a mouth guard, an unusual therapeutic approach for this complex psychiatric phenotype. Case report. Mr. A, a 32-year-old white physical therapist, sought diagnostic evaluation at our center in a state of severe undernourishment. He had a 3-year history of progressive self-neglect, lack of initiative, and morbid adherence to rules and schedules. He persistently worried about missing the " correct time " for taking his meals and medication. The presence of complex vocal tics (including slurs, grunting, squeaking, and sucking sounds) and severe lip-biting behaviors was a major complaint, which was also disclosed during his mental status assessment. In a desperate attempt to avoid self-mutilation, Mr. A kept a scarf in his mouth several times a day. Blood examinations disclosed acanthocytes and increased muscle creatine phosphokinase. Magnetic resonance imaging revealed atrophy of both caudate nuclei. Electromyography and nerve conduction studies evidenced a mononeuropathy multi-plex of axonal type. Unfortunately, no chorein Western Blot testing 2 was available at the time of his evaluation. Given the severity of Mr. A's oral self-injurious behaviors, this condition took relative precedence over other psychiatric symptoms and was considered a primary treatment target. Mr. A was initially treated with fluoxetine, up to 60 mg/day, for more than a year, along with quetiapine, 300 mg/day (for 8 weeks), clozapine, 200 mg/day (for 8 weeks), topiramate, 75 mg/day (for 6 weeks), and clonazepam, up to 6 mg/day (for 12 months), all employed as augmentation strategies for fluoxetine in a sequential fashion and after adequate periods of treatment. Unfortunately , though, Mr. A reported no significant improvement of his symptoms. In an attempt to treat Mr. A's drug-resistant self-mutilation, a soft mouth guard was employed to prevent the destruction of perioral soft tissues. Surprisingly, not only did this strategy result in the remission of self-injurious behaviors but it also improved other psychiatric symptoms, including phonic tics, obsessive-compulsive symptoms, and lack of initiative. After using his mouth guard, Mr. A resumed several of his daily activities …