Magnetic resonance spectroscopy in two siblings with chorea‐acanthocytosis

Stereotypy is an involuntary, coordinated, patterned, repetitive, rhythmic, purposeless movement. Distinguishing stereotypies from other movement disorders is pivotal and at times difficult, particularly with tics and mannerisms, the most likely causes of confusion. Stereotypies may be part of neurodegerative disorders (Rett’s syndrome, Lesh-Nyhan syndrome, and neuroacanthocytosis), psychiatric disorders, Tourette’s syndrome, encephalitis lethargica, and rarely a response to focal brain lesions. We report on a 34-yearsold female who developed an odd motor stereotypies after herpetic encephalitis with prominent hypersexuality. These features plus memory complaints let us to believe in the diagnosis of an incomplete Kluver-Bucy syndrome. The patient was admitted to the emergency room with a history of headache, fever, and somnolence lasting 24 hours. At admission, she was confused and disoriented. CSF analyses revealed pleocytosis with lymphocytes predominance (170 cellules/mm, 94% lymphocytes). Polymerase chain reaction for HSV DNA was positive. She was diagnosed with herpetic encephalitis and treated with intravenous acyclovir 10 mg/kg, TID. The patient remained somewhat unresponsive and confused. Continuous EEG monitoring demonstrated that such episodes corresponded to complex partial seizures arising independently from both temporal lobes, occurring every 2 to 5 min and defining nonconvulsive status epilepticus (NCSE). After a phenytoin IV load, her status worsened leading to entubation and ventilatory support. Following recovery from the NCSE, she started with repetitive movements characterized as face scratching (Video). Those movements were triggered by touching the face and were so intense that she developed a skin abrasion on the right side of her chin. MRI showed bitemporal acute lesions in FLAIR. A month after hospital discharge, her husband reported that she developed significant hypersexuality and remained with the stereotypy. Video-EEG revealed no abnormalities during those episodes. She demanded several daily intercourses and allegedly achieved multiple orgasms. She denied dietary changes, increased appetite, or major emotional changes, but she did complain of memory difficulties. The stereotypy remained intense in spite of the addition of carbamazepine and haloperidol. At last follow-up morning hygiene, face makeup and dressing routines were still compromised by the stereotypy. Neuroanatomical basis of Kluver-Bucy Syndrome remains unclear. This syndrome was classically reported in monkeys after bilateral temporal lobectomy, but it also occurs in humans after herpes encephalitis, brain trauma, status epilepticus, Pick or Alzheimer diseases. Patients present with hypersexuality, excessive oral tendencies, dietary changes, loss of normal fear, psychic blindness, and excessive attentiveness to visual stimuli, although there are brief reports addressing incomplete or partial forms. Herpes encephalitis is the most frequently reported etiology of this syndrome, as it seems to be the case in our patient. Hypersexuality, memory impairment, and hypermetamorphosis maybe the basis for the diagnosis of incomplete Kluver-Bucy syndrome. However, motor stereotypies was never reported as a component of that syndrome. Common stereotypies examples include arm flapping, hand waving/rotating, finger wiggling, head nodding, and body rocking. They occur in association with several diseases like autism, mental retardation, sensory deprivation, and a variety of syndromes, as well as in otherwise healthy individuals. We have found no published report of a patient manifesting such curious stereotypy following acute encephalitis. Self-injurious behavior is viewed by some as continuum on the spectrum of sterotypic behavior. It most often occurs in the setting of autism and retardation, but also with some genetic disorders. Our patients was indeed hurting herself with almost continuous face scratching. It was the first stereotypic movement with self-injurious behavior that we have noticed after herpetic encephalitis. There is a general belief that stereotypy in higher animals is a form of selfstimulation. It seems like the concept of deprivation is the cause of stereotypy. Once a critical period has passed, these behaviors are not reversible. Other experimental manipulations to induce stereotypies are pharmacological and targeted insults to the central nervous system. In animal models, stereotypic behaviors can be induced in response to both directly and indirectly acting dopamine receptor agonists and may require a combination of both D1 and D2 receptors. Nigral and thalamic output pathways plays a significant role in the expression of these behavioral responses. Thus, we could hypothesize that those subcortical structures were compromised in some way during the encephalitic process in our patient. Moreover, there is some evidence that targeted insults to nonstriatal structures within the medial temporal lobe result in locomotor stereotypies in both rodents and nonhuman primates. Although the pathophysiology of repetitive behaviors is unknown, it seems like the mesial structures of the temporal lobe, amygdala, and hippocampus, also could play a important role in the development of such movements.