Irregular Case of Neuroacanthocytosis Presenting with Late Onset Attention Deficit Hyperactivity Disorder: A Case Report

Yiğit Can Güldiken, Hüsnü Efendi, Sedat Gül^* and Özge Demirkol
^*Correspondence: Sedat Gül, Department of Neurology, Kocaeli University, İzmit, Turkey, Email:

Keywords

Neuroacanthocytosis • Attention deficit disorder with hyperactivity • VPS13A protein • Dyskinesias

Introduction

Neuroacanthocytosis (NA) syndromes are characterized by various neurological abnormalities accompanied by abnormal red blood cells called acanthocytes [1]. These disorders were originally named as ‘’Levine-Citchley syndrome’’ because they were originally thought to have homogenous etiology [2]. After the identification of the responsible genes, it is recognized that neuroacanthocytosis syndromes may be divided into 4 main subgroups. These subgroups are named as; Core NA syndromes, Degenerative disorders where acanthocytosis is occasionally seen, Paroxysmal dyskinetic disorders and Disorders with reduced blood lipoproteins and acanthocytosis [3]. Our case report focuses on Choreaacanthocytosis, which is one of the two core NA syndromes along with McLeod syndrome.

Chorea-acanthocytosis is an autosomal recessive disorder [4]. It is a very rare disorder that is estimated to affect one thousand people worldwide [5]. It is evenly distributed among males and females and appears to be more prevalent in Japan and French-Canadian population [6]. Initial symptoms usually present in 20s and progresses slowly over 15-30 years [5].

Initial presentation of Chorea-acanthocytosis may be misleading. Often patients develop cognitive or psychiatric symptoms before the neurologic manifestations [2]. Manifestations may vary widely. Most bizarre and characteristic feature of this syndrome is orolingual dystonia that involves the lower face and tongue [7]. This presentation may also occur in other disorders but the severity is highly significant in chorea-athetosis. Feeding dystonia is also part of this syndrome and it occurs with eating. As soon as the tongue touches the food bolus, it pushes the food out of the mouth [8]. Additionally, self-mutilating lip or tongue biting may be seen, which resembles Lesch-Nyhan syndrome [4]. Another associated disorder that may cause self-harm is a sum of symptoms called as rubber-man appearance, described as sudden head and trunk flexion and extensions that may cause violent head banging or dangerous falls [9, 2]. Parkinsonism may also develop and sometimes be the initial presentation. Accompanying bradykinesia characteristically develops later in the process [10]. As emphasized later in this paper, psychiatric component of the disease may also be very dominant and early presenting. These include tics that resemble Tourette syndrome especially if they were present before the neurological symptoms [11]. Also, even a decade earlier than the neurological signs, patients may present with apathy, poor judgement, obsessive-compulsive disorder and schizophrenia like psychosis [3].

Despite the name of the syndrome suggests, acanthocytes are not always seen in peripheral blood smears of these patients. Acanthocytes levels tend to change during the course of the disease and these levels don’t correlate with the severity of disease [12]. Serum Creatinine Kinase (CK) levels are a much more useful parameter regarding its moderate or evident elevation is a frequent finding among patients. Also, elevated liver enzymes are seen in nearly 50% of the patients. As a confirmatory test, Western blot assay of the Chorein protein, product of VPS13A gene, may be performed [1]. Additionally, electroneurography may demonstrate sensorimotor axonal neuropathy. On magnetic resonance imaging (MRI), specific involvement of the head of caudate nucleus is seen [13]. Putamen and Globus Pallidus are also predominantly affected [14].

In this case report, we present a rare case of chorea-acanthocytosis with attention deficit hyperactivity disorder (ADHD).

Case Presentation

6A thirty-three-year-old female presented to neurology outpatient clinic with choreiform movements in both her upper and lower extremities and difficulty with fine motor movements. She reported that these complaints have been going on for 12 years. In the last 4 years, she has also developed forgetfulness, attention deficit, orofacial dyskinesia and tic disorder that affects her eyes.

Physical examination was insignificant except for decreased deep tendon reflexes in her four extremities. Echocardiography of the patient and cranial imaging with MRI yielded no abnormalities. Upon clinical suspicion,hematology referral was made, and peripheral blood smear was obtained. Smear revealed 15% acanthocyte formation.

To further investigate, EMG was performed and showed sensory axonal peripheral neuropathy which is expected in chorea-acanthocytosis. In addition to these, creatine kinase levels were highly elevated.

A psychiatry referral was made to evaluate the relatively newer symptoms of the patient. Psychiatry department performed DIVA scoring system and diagnosed the patient with ADHD [15]. The patient was enrolled with routine psychiatric follow up for adult onset ADHD.

Upon diagnosing the patient with chorea-acanthocytosis, treatment with clonazepam was initiated as recommended in the literature (Figure 1) [10].

Conclusion

In this case report, we presented a rare case of acanthocytosis that presents with ADHD in the later stages of disease. We wanted to emphasize the importance of multidisciplinary care in the management of choreaacanthocytosis.

References

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