Correspondence Address: Source of Support: None, Conflict of Interest: None DOI: 10.4103/0028-3886.241350
Source of Support: None, Conflict of Interest: None
Abnormal posture is usually seen in patients with Parkinson's disease (PD) and atypical Parkinsonism More Details. A third of the patients with PD may have deformity of the neck, limbs, or the trunk. Apart from the classical stooped posturing seen in PD, patients with PD and atypical parkinsonism [including progressive supranuclear palsy (PSP)] may have other severe postural deformities such as antecollis, retrocollis, camptocormia, and Pisa syndrome which cause substantial disability and significantly affect the quality of life. The authors report a case of PSP—Richardson–Steele (RS) syndrome with the unusual presentation of Pisa syndrome.
A 56-year old male patient presented to our institute with complaints of slowness in day-to-day activities and recurrent falls for the past 2 years. The patient was apparently asymptomatic 2 years ago when his family members started noticing slowness in bathing, eating, dressing, and other daily routine activities which were normal previously. Initially, he could perform these activities independently; however, of late, he had started depending on his family members for the same within a year of the onset of his illness, and he also started having recurrent falls, which were backwards, and sometimes occurred up to more than five times a day. As a result of these falls, the patient was now dependent on at least two relatives for his day-to-day activities. The disease process also resulted in his surrendering his job as a ‘zari'-clothing embroidery worker, which required dexterity. The relatives also specifically mentioned that while walking, his upper body had started deviating to the right side. This was not seen when the patient was lying down in bed or sitting upright. On enquiring further, they clarified that he previously did not have any back or spinal deformity. The relatives also complained that in the past 6 months, he could not look downward while eating his meals and while blessing the children of his family; he also could not maintain eye contact while talking to multiple relatives at the same time; they felt as if his eyes were “fixed.” The patient also had difficulty in swallowing especially liquids, and complained of choking and coughing every time he took liquids. At the same time, there was also a discernable change in voice, which was initially low in volume and comprehensible, but as of now was incomprehensible. Apart from these complaints, the family members complained that the patient made frequent grunting noises around 8–10 times an hour daily, and they clarified that these episodes were distinct from the choking episodes that he faced on swallowing liquids. Since the past 8 months, the patient was unable to carry out any of his day-to-day activities and was completely dependent on family members for the same. Five years ago, the patient had a head injury and was subsequently operated upon and recovered completely. There was no history of tremors, inspiratory stridor, orthostatic symptoms, erectile dysfunction, abnormal limb posturing, dream enactment state, cold extremities, or contractures. There was no history of ingestion of any of the medications before the onset of illness. The family members could not recollect any other member or elder in the extended family with a similar disease process.
On examination, the patient was afebrile; his vital parameters were stable with no evidence of postural fall in blood pressure. The extremities were warm and all peripheral pulses were felt. The blink rate was 3 per minute (that is, it was significantly reduced). The neck was seen to be in a hyperextended state, suggesting the presence of retrocollis.
The Mini-Mental State Examination was performed as a screening test (the patient was educated until the class 5th) and he scored 23 out of 30 with impairment in attention, orientation in time, in writing, and in drawing a complex diagram. On a detailed frontal lobe assessment (Frontal Assessment Battery), the patient scored 5 out of 18, revealing significant frontal lobe dysfunction. The patient also had positive frontal release signs (snout, pout, and palmomental reflex) along with “applause sign” (suggesting motor perseveration).
Language examination revealed impaired verbal fluency; however, comprehension and repetition, naming, and reading were normal. His memory was normal. Parietal lobe assessment revealed impaired optokinetic nystagmus. The remaining cortical assessment was normal for temporal and occipital lobes.
On cranial nerve examination, there was complete restriction of vertical gaze (upward and downward) along with slowing of saccades and there were broken pursuits in the horizontal gaze. The remaining components of the cranial nerve examination were normal. There was the presence of furrowing over the forehead with an anxious look—"the procerus sign.” Motor examination revealed rigidity in all the four limbs, along with axial rigidity, which was more when compared with limb rigidity. There was the presence of bilateral striatal toe. All deep tendon reflexes were brisk (3+) including a brisk jaw jerk. Sensory and cerebellar examinations were normal. On gait examination, the patient needed the support of at least two people for walking along with an initial freezing of gait, following which he could walk, although with support. Also, while walking, there was tilting of the trunk to the right, which improved in the supine position and on sitting upright, suggesting the presence of Pisa syndrome [Video 1]. There was no stooping, festinating gait, tremors, or dystonia. The remaining part of the examination was normal. Magnetic resonance imaging of the cranium demonstrated on T2-weighted axial image, the ‘morning glory' or ‘mickey mouse' sign with atrophy of the superior cerebellar peduncle at the level of midbrain [Figure 1]. The sagittal section revealed the ‘humming bird' sign with atrophy of midbrain [Figure 2]. The patient was advised antiparkinsonian drugs but had no significant relief.
This patient represents the classical presentation of PSP-RS. The only unusual aspect that this particular case presented with was the lateral bending of the trunk while walking, which returned to the normal posture in supine position, commonly known as the Pisa syndrome. It is defined as the lateral flexion of the trunk (≥15°), which increases on walking and resolves on lying down, in the absence of any mechanical restriction and with continuous electromyography (EMG) activity in the lumbar paraspinal muscles on the ipsilateral side of trunk deviation. As of now, there is no consensus on the angle of trunk deviation with some experts defining Pisa syndrome with a flexion angle ≥10°. The Pisa syndrome differs from scoliosis, with the latter being defined as a fixed deformity with lateral flexion of the trunk along with a vertebral rotation and a Cobb's angle of ≥10° in the coronal plane. Pisa syndrome can be temporally classified as acute (≤1month), sub-chronic (1 to <3 months), and chronic (≥3 months).
Pisa syndrome is seen with many medical conditions such as PD, atypical Parkinson's disease [multiple system atrophy (MSA)], due to the change in dosing of dopaminergic drugs, as a side effect of antipsychotic treatment, in Alzheimer's disease treated with cholinesterase inhibitors, and also as an idiopathic phenomenon. It has also been reported in a subset of patients who underwent surgical procedures for PD such as pallidotomy and deep brain stimulation (DBS)., Patients with PD usually tend to develop the chronic form of Pisa syndrome, whereas drug-induced Pisa syndrome tends to be acute. Up to 15% of patients with PD may develop Pisa syndrome. An older age, a longer disease course, the presence of osteoporosis or arthrosis, and a lower body mass index are associated with a higher risk of developing Pisa syndrome, whereas the female gender is associated with a lower risk of manifesting the syndrome.
The presence of Pisa syndrome, although seen in PD and multi-system atrophy (MSA), is not usually seen in PSP. The various pathogenetic mechanisms proposed for this syndrome include a dopaminergic–cholinergic imbalance (especially in drug-induced Pisa syndrome), basal ganglia degeneration (although no laterality has been established), a unilateral vestibular hypofunctioning, and alteration in the visual perception of the vertical and the body schema. Some investigators have also proposed a dystonic theory based on continuous electromyographic (EMG) activity in paraspinal muscles.,
The patient had not been taking any dopaminergic/cholinergic drugs, nor was he on any antipsychotic medications. Temporally, he had the presentation of chronic Pisa syndrome. He was started on rehabilitation programs and physiotherapy specifically aimed at reducing truncal rigidity and maintaining postural flexibility. EMG testing and botulinum toxin A injections, to be administered in the paraspinal muscles, were also planned for this patient; however, the patient was neither willing nor could he financially afford the recommended treatment. Subthalamic and pedunculopontine deep brain stimulation and spinal realignment surgery are some recent treatment modalities available for Pisa syndrome.,,,
Pisa syndrome has also been observed in PSP-RS. Pisa syndrome in Parkinsonism causes respiratory, postural, and mobility problems. The timely attention to postural deformities that have the potential to exacerbate difficulties in day-to-day life can be minimized.
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[Figure 1], [Figure 2]