Catatonia: A rare presentation of Wilson's disease

Abstract

Wilson's disease (WD) or hepatolenticular degeneration is a rare inherited disorder of copper metabolism affecting both the liver and the central nervous system. Psychiatric manifestations may precede neurological signs in the early stages of WD, but catatonia is a rare presentation. Here, we report a case of an 18-year-old girl who presented to the psychiatry outpatient department with catatonia. She was subsequently diagnosed to have WD. Her symptoms improved on treatment with trientine, trihexyphenidyl, zinc acetate, and benzodiazepine.

First described by Wilson in 1912, Wilson's disease (WD) is a rare autosomal recessive disorder with over 200 mutations in the responsible gene, which is located on the long arm of chromosome 13. The gene encodes a membrane-bound copper-binding protein (ATP7B) responsible for copper metabolism.[1,2] Almost 20% of patients with WD initially present with psychiatric illness or behavioral disorder in the form of: personality change (alterations in lifestyle, relationships, disinhibition, bizarre or reckless behavior, impulsiveness, declining school performance), irritability, labile mood, aggression, and mild cognitive impairment. Catatonia is a rare presenting symptom of WD.[3] We report a patient who presented with catatonia but subsequently was diagnosed to have WD.

CASE REPORT

An 18-year-old girl was brought to the psychiatry outpatient department (OPD) of a tertiary care hospital with a 10-day history of tremulousness, drooling of saliva, difficulty in walking, maintaining abnormal posture, disturbed sleep, and appetite as she could not swallow fluids properly or eat. The patient was apparently all right 6 months back when her parents started noticing that she was getting irritable on trivial matters and would start crying even on minimal provocation. One day following an altercation with parents, the patient stormed off and allegedly consumed half a cup of floor disinfectant. She was then rushed to the hospital for management. Following this incident, the patient started keeping to herself and would not interact with her family. Her symptoms gradually worsened so much so that her parents found her crying most of the day. She would get anxious and breathless even if approached by her mother for a regular conversation. Since 10 days, the patient would tell her mother that she was unable to write anything in college due to tremors in her hands and stopped going to college altogether. Her mother initially thought that she was making excuses to not study but noticed her hands used to tremble and she was not able to hold anything for long. Family members noticed progressive slowing in her activities along with frequent staring episodes. She would respond to her name only after being called 4–5 times. Gradually, her upper limbs started becoming stiff and the tremulousness worsened. She was unable to eat as she could not close her mouth and had drooling of saliva. Her forearms remained flexed in uncomfortable positions for long periods without discomfort. She was unable to sleep due to these symptoms. She was then taken to an Ayurvedic doctor; however, after treatment for a week, her symptoms worsened and her food intake drastically reduced. She was then brought to the medicine OPD and was referred to the psychiatry OPD to rule out dissociative disorder.

On initial assessment, she was unable to talk. Her body was rigid and akinetic [Figure 1]. Her limbs could be placed in odd postures which she could sustain for a considerable period of time [Figure 2]. She also demonstrated waxy flexibility, staring, and negativism. Bush Francis Catatonia Rating Scale (BFCRS) score was 26. Testing for comprehension revealed no facial reactions to questions. She could only respond in signals or with incomprehensible sounds and would start crying without provocation. Further assessment of higher mental functions was not possible. Pupils were equal in size with fluctuating light reflex. Deep tendon reflexes were uniformly brisk and plantar reflexes were bilaterally flexor. Conjuctiva showed a brownish ring around the corneal margin which was confirmed to be Kayser–Fleischer ring on slit lamp examination [Figure 3].

Figure 1.

Patient rigid and akinetic

Figure 2.

Patient maintaining abnormal

Figure 3.

Kayser-Fleischer

Routine hemogram, platelet count, SGOT, SGPT, blood urea, serum creatinine, fasting blood sugar, and urine microscopy were within normal limits. Ultrasonography abdomen and pelvis showed hepatic and splenic parenchymal abnormalities mostly due to metabolic disorder. Magnetic resonance imaging (MRI) brain showed symmetric signal abnormalities in bilateral caudate and lentiform nuclei, bilateral thalami, dorsal pons, and splenium of corpus callosum – findings suggestive of metabolic/toxic encephalopathy [Figure 4]. Axial T2 weighted MRI of the brain at the level of the midbrain showed the “face of the giant panda” sign [Figure 5]. Serum ceruloplasmin was 0.05 mg/dL (20–35 mg/dL) and 24-h urinary copper was 212.1 mcg/24 h (15–60 mcg/24 h). Neurophysician diagnosed her to be suffering from WD. Her catatonia improved with injection lorazepam 2 mg IV stat. She was then started on lorazepam 2 mg QID, D-penicillamine 250 mg TDS, zinc acetate 50 mg BD along with trihexyphenidyl 2 mg TDS. Due to pancytopenia, D-penicillamine was replaced by trientine 250 mg BD. Zolpidem 5 mg was added for sleep disturbance. BFCRS score reduced gradually. Her interaction, behavioral disturbances, and food intake improved slightly with gradual improvement in posturing. She is continuing her chelation therapy and is currently maintaining well with near-total improvement.

Figure 4.

(a) T2 weighted and (b) flare view of MRI brain showing symmetric signal abnormalities in bilateral caudate and lentiform nuclei, bilateral thalami, dorsal pons and splenium of corpuscallosum-findings suggestive of metabolic/toxic encephalopathy.

Figure 5.

Giant Panda Sign. Axial T2-weighted MRI of the brain at the level of the midbrain showing the ‘face of the giant panda’ sign

DISCUSSION

Catatonia was first described by Karl Kahlbaum in his monograph “Die Katatonie oder das Speannungsirresein” (catatonia or tension insanity) in 1874. He considered catatonia as a psychomotor syndrome with motor, affective, and behavioral features, most commonly associated with affective disorder. Kraeplin and Bleuler subsequently identified this phenomenon with motor symptoms occurring exclusively in schizophrenia. Current concept of catatonia is one of the complex psychomotor syndromes that manifests across a wide range of neuropsychiatric conditions.[4,5] Catatonia occurs in 8% of the population in neurological WD. Psychiatric manifestations may precede neurological signs in the early stages of WD. About 20% of them precede hepatic and neurological dysfunction. It is recommended that serum ceruloplasmin should be measured in all psychiatric patients who show personality change, especially toward disinhibited, bizarre, or reckless behavior, in those who show neurological signs not accounted for by medication, and in patients with unexplained hepatic disease.[3]

CONCLUSION

Sudden onset of personality change, first episode of behavioral disturbances in the absence of family history and presence of catatonic features, requires detailed investigations to rule out underlying organic cause as in this case before concluding it to be a purely psychiatric disorder.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.