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Neurology India, Vol. 51, No. 3, July, 2003, pp. 383-384 Sporadic variety of pallido-pyramidal syndrome Kalita J, Misra UK, Das BK Correspondence Address: Code Number: ni03124 ABSTRACT A rare case of a 40-year-old lady with a sporadic variety of the pallido-pyramidal syndrome (PPS) is reported. She had marked parkinsonian features on the left side. Her single photon emission computed tomography showed left frontoparietal and basal ganglia hypoperfusion. CT scan and central motor conduction time were normal. She responded partially to a combination of trihexyphenydil and L dopa/C dopa therapy. In view of the diversity in the genetic, clinical and laboratory features, it is possible that PPS may be a heterogeneous condition. INTRODUCTION The pallido-pyramidal syndrome (PPS) is a rare entity and was reported for the first time by Davison in 1954; and by now about 18 patients have been reported in the English literature.[1],[2] Most of these patients are familial with an autosomal recessive mode of transmission. They present in young adulthood with a unilateral onset of symptoms, which become symmetrical later. These patients usually respond well to levodopa therapy. We report a patient with the pallido-pyramidal syndrome. CASE REPORT A 40-year-old housewife presented with tremors on the left side for two-and-a-half years. Five months later the tremor appeared in the right upper limb also. The tremors were aggravated during psychological stress, on stretching the hands or during walking but subsided during sleep and in the restful state. One year later she developed difficulty in walking and dragging of the left leg. These symptoms slowly progressed and she developed slowness in walking, eating, dressing and bathing. Gradually the volume of speech also declined. She did not have any memory impairment. She was born of a non-consanguineous marriage and had 3 brothers. None of her family members suffered from a similar illness. She had not taken tranquilizers or antiemetic drugs and had not been exposed to any pesticide. There was no history of head injury or stroke. On examination, she was a thin built lady and walked in a hemiplegic gait. Her pulse was 60/min, regular, BP 120/80 mm Hg. Her fundus oculi was normal and she had no Kayser-Fleischer (KF) ring. She had a mask-like face with reduced blinking (4/min). Her mental status examination was normal (Minimental state examination score 27) and there was no cranial nerve palsy. She had rigidity of all 4 limbs which was more marked distally. There was grade II spasticity on the left side. Grade III pill-rolling tremors as assessed by the tremor grading of the unified Parkinson's disease rating scale3 were present, which were more marked on the left and increased during walking and when hands were outstretched. The tremors were coarse and of high amplitude. Head and voice tremors were not present. She had weakness on the left side (grade IV MRC scale). Biceps, triceps, knee and ankle reflexes on the left side were exaggerated and plantar was unelicitable. Other systemic examination was normal. Her basic hematological and biochemical investigations, including serum ceruloplasmin, cerebrospinal fluid analysis and vasculitic profile did not reveal any abnormality. Cranial CT scan was normal. Single photon emission computed tomography (SPECT) using 99Tc ECD (ethylene cystine dimer) revealed hypoperfusion in the left basal ganglia and the frontoparietal area [Figure-1]. Central motor conduction study to abductor digiti minimi (Right= 4.5 ms, left 4.4 ms) and tibialis anterior (right=10.8 ms, left= 10.0 ms) was normal. Her electroencephalography was also normal. She was prescribed trihexyphenydil 2 mg thrice daily which was increased to 4 mg thrice daily over a period of one week but had only mild improvement. Then trihexyphenydil was withdrawn and a low dose L dopa/C dopa (110 mg thrice daily) was tried. She responded for the initial 2 days, as evidenced by 50% reduction in the tremor and disappearance of hemiplegic gait. After 3 days, her symptoms aggravated again, for which the L dopa/C dopa dose was gradually increased up to 2 tablets (L dopa/C dopa 275 mg) without much benefit. She was discharged from the hospital on trihexyphenydil 2 mg thrice daily with low dose L dopa/C dopa following which she had moderate improvement. DISCUSSION Our patient had a sporadic variety of PPS which manifested at 38 years without any family history and consanguinity. Such a patient may simulate young onset parkinsonian disease, dopa-responsive dystonia and Wilson's disease. Our patient had no diurnal variation and had left-sided pyramidal sign excluding the possibilities of young onset Parkinson's disease and dopa-responsive dystonia. The absence of KF ring and normal ceruloplasmin exclude the possibility of Wilson's disease. Of the 18 patients with PPS reported so far, most of the patients were familial and parental consanguinity was known to exist in all but 3 cases. The mode of transmission is suspected to be autosomal recessive. The PPS manifests between 7 and 24 years of age which is consistent with the autosomal recessive mode of transmission. Our patient had neither a family history of PPS nor was a product of a consanguineous union and PPS manifested at 38 years. It may be due to a new mutation or PPS may be a heterogeneous condition. PPS has extrapyramidal, pyramidal and cerebellar symptoms. The extrapyramidal features in PPS include bradykinesia and a cogwheel type of rigidity in 80% of the patients. Pill-rolling tremor, hypomimia, hypophonia, stooping posture, striatal toes and equinovarous deformity may be noted. The pyramidal features include paraparesis, scissoring of gait, Bakinski sign, hyperreflexia, and pseudobulbar effect. Cerebellar symptomatology has been reported in 3 patients only.[4],[5] Our patient had typical parkinsonian features and pyramidal signs in the form of left hemiparesis, spasticity and hyperreflexia, and hemiplegic gait. In the available literature the presence of hemiplegia in PPS has not been emphasized. Cranial CT scan of our patient was normal and there were no risk factors of stroke or history of stroke or any other pathology to account for hemiparesis. SPECT studies revealed left-sided basal ganglia and frontoparietal hypoperfusion. In PPS, positron emission tomography (PET) studies revealed decreased metabolism in the putamen, caudate and to a lesser extent in substantia nigra.[6] This may be due to the degeneration of striatal neurons. Left-sided frontoparietal and basal ganglia hypoperfusion in our patient may be due to the defective programming of the motor cortex which is influenced by basal ganglia input. Because of thalamic and basal ganglia involvement frontal hypoperfusion has been reported in SPECT studies in Japanese encephalitis patients with movement disorders.[7] Cortical hypoperfusion due to subcortical lesions has been attributed to cerebral diaschisis. Cerebral diaschisis has been commonly described with vascular insult and is attributed to anterograde Wallarian degeneration, retrograde degeneration, transsynaptic degeneration of cortical neurons or reduced functional activity of cortical neurons without actual degeneration.[8] The latter mechanism seems to be more likely in our patient. Patients with PPS respond well to levodopa therapy. There is only one report of poor response of PPS to levodopa therapy.[9] Long-term follow-up up to 20 years has revealed a stable response to levodopa.[2] Our patient did not show significant improvement with levodopa but had partial improvement with a combination of trihexyphenydil and levodopa; and not to these drugs in isolation. REFERENCES
Copyright 2003 - Neurology India. Also available online at http://www.neurologyindia.com The following images related to this document are available:Photo images[ni03124f1.jpg] |
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