cmj - Dec.2003 - Semantic Scholar

3 downloads 3 Views 161KB Size Report
dyskinesia (PNKD, no specific triggers), paroxysmal exercise induced dyskinesias (PED) and paroxysmal hypnogenic dyskinesia (during non-REM sleep) [1,2].

Case reports

Young patients with movement disorders UK Ranawaka, AAPT Chang and JC Wijesekera (Index words: Neuro-acanthocytosis, paroxysmal dyskinesias)

Introduction Unlike in old people in whom Parkinsonism and related akinetic-rigid syndromes predominate, movement disorders in young adults constitute a diagnostic and therapeutic challenge. Rheumatic chorea and Wilson disease are among the best known, but other disorders are relatively uncommon and may cause diagnostic difficulty. We report two young adults with unusual movement disorders.

Case 1 A 27-year old man presented with a complaint of ‘difficulty in walking’. He had stiffness in the left upper and lower limb on walking, motivating him to sit down and rest after walking some distance. Prolonged grip of an object produced stiffness in his fingers. He also had slurring of speech, curiously also on walking. He was asymptomatic at rest. Distal arterial pulses were normal and there was no blood pressure gradient in the limbs. Duplex scanning of the carotid, vertebral and leg vessels, and myelography were normal. Neurological examination at rest was normal. On walking a short distance, he developed dystonia involving the left upper and lower limbs, with dysarthria. Magnetic resonance imaging (MRI) of the brain and cervical cord, nerve conduction testing and electromyography, and serum creatine kinase levels were normal. A diagnosis of paroxysmal exerciseinduced dystonia was made. He improved with clonazepam and remains reasonably symptom free.

Case 2 A 33-year old housewife presented with progressive difficulty in walking, abnormal involuntary movements and generalised seizures. She also had episodes of slurring of speech and difficulty in swallowing. Examination showed choreo-athetoid movements in the limbs, pronounced dyskinesias involving the mouth, lips and tongue, ataxia and cognitive impairment. Electroencephalogram showed features of generalised epilepsy. The blood picture was suggestive of neuro-acanthocytosis, with an acanthocyte count of 9%. Neurophysiological studies revealed axonal sensory polyneuropathy. Blood lipid profile and computed tomography scan of the brain were normal. Seizures were well controlled with carbamazepine, but involuntary

movements responded poorly to symptomatic treatment. Both patients were screened for Wilson disease and vasculitis with negative results. Neither had a relevant family history or drug history.

Discussion Paroxysmal dyskinesias (previously termed paroxysmal choreo-athetosis and dystonia, now grouped together) are intriguing disorders. They are divided into paroxysmal kinesigenic dyskinesia (PKD, induced by sudden movement), paroxysmal non-kinesigenic dyskinesia (PNKD, no specific triggers), paroxysmal exercise induced dyskinesias (PED) and paroxysmal hypnogenic dyskinesia (during non-REM sleep) [1,2]. PED may be sporadic or familial (autosomal dominant) [1,3]. Sporadic cases usually present with dystonia involving lower limbs [1]. Dystonic movements are characteristically precipitated by exercise, may be unilateral, and last 5 to 30 min. Frequency may vary from a few attacks in a month to several in a day [1,3]. Dysarthria is a common accompaniment. Passive movements or sensory stimulation of the limbs may also act as triggers [1,3]. Sensory symptoms in affected limbs, postural tremor and migraine may be associated [1]. Some patients have prodromal symptoms and post-ictal phenomena [1], and exclusion of seizures is important. EEG and neuroimaging are normal. Treatment is usually with antiepileptics, acetazolamide or clonazepam, but the response is not always good [3]. Neuro-acanthocytosis is a syndrome of diverse neurological manifestations and peripheral blood acanthocytosis. Cases may be sporadic or familial (autosomal dominant or recessive) [4-6]. Involuntary movements are the clinical hallmark. Oro-facio-lingual dyskinesias lead to dysarthria, dysphagia, vocalisations and sometimes self-multilation [2,4]. Limb chorea and dystonia are common. Behavioural and personality change, dementia, extrapyramidal features, generalised seizures and an axonal neuropathy with areflexia are characteristic features [2,4]. Demonstration of over 3% acanthocytes in peripheral blood is required for diagnosis [4,7]. Requesting a ‘blood picture’ on clinical suspicion is important, as most laboratories now use automated analysers. Repeated sampling may be necessary, and electron microscopy helps diagnosis [4]. MRI scanning

Institutional affiliation: Institute of Neurology, National Hospital of Sri Lanka, Colombo. Correspondence: UKR, 47, Waragoda Estate, Kelaniya, Sri Lanka. Tel: +94 11 674681, +94 11 917970, e-mail: [email protected] (Competing interests: none declared). Received 10 June and accepted 24 June 2003.


Ceylon Medical Journal

Case reports may show a high T2 signal in the basal ganglia and caudate atrophy. Normal plasma lipid levels and lipoprotein electrophoresis help to distinguish this from abetalipoproteinaemia [4,6,8]. Proper evaluation of movement disorders in young people is necessary as there are important considerations regarding diagnosis, treatment and family counselling. Paroxysmal dyskinesias are commonly mistaken for seizures. Chorea and cognitive impairment in neuroacanthocytosis can mimic Huntington disease, with implications for genetic counselling [6,8]. Dyskinesias and dystonias interfere with activities of daily living and occupation, leading to disability and handicap. Appropriate management depends on accurate diagnosis. As shown by these cases, the diagnosis can sometimes be established on clinical grounds or with simple investigations.

References 1.

Munchau A, Valente EM, Shahidi GA, Eunson LH, Hanna MG, et al. A new family with paroxysmal exercise induced dystonia and migraine; a clinical and genetic study. Journal of Neurology, Neurosurgery and Psychiatry 2000;

68: 609–14 2.

Riley DE, Lang AE. Movement disorders. In: Bradley WG, Daroff RB, Fenichel GM, Marsden CD, eds. Neurology in Clinical Practice. Massachusetts: ButterworthHeinemann, 1996; 1733–72


Plant GT, Williams AC, Earl CJ, Marsden CD. Familial paroxysmal dystonia induced by exercise. Journal of Neurology, Neurosurgery and Psychiatry 1984; 47: 275–9.


Hardie RJ, Pullon HWH, Harding AE, Owen JS, Pires M, et al. Neuroacanthocytosis- a clinical, haematological and pathological study of 19 cases. Brain 1991; 114: 13–49


Aminoff MJ. Acanthocytosis and neurological disease. Brain 1972; 95: 749–60


Hardie RJ. Acanthocytosis and neurological impairment— a review. Quarterly Journal of Medicine 1989; 71: 291–306


Wills A, Marsden CD, eds. Fifty Neurological Cases from the National Hospital. London: Martin Dunitz, 1999


Sotaniemi KA. Chorea-acanthocytosis-Neurological disease with acanthocytosis. Acta neurologica scandinavica 1983; 68: 53–6.

A case of primary neuroleptospirosis AAPT Chang1, UK Ranawaka2, H Gunasekara3 and JC Wijesekera4 (Index words: Papilloedema, transverse myelitis)

Introduction The clinical spectrum of leptospirosis ranges from inapparent infection to fulminant and fatal disease. It is uncommon for leptospirosis to present as a primary neurological disease [1]. We describe a patient presenting with transverse myelitis and papilloedema due to leptospirosis.

Case report A 30-year-old paddy farmer from Thelijjawala, Matara was transferred from Teaching Hospital, Karapitiya to National Hospital of Sri Lanka with sudden onset of paraparesis, urinary retention, and numbness below his upper abdomen of three weeks duration. He did not have symptoms referable to his upper limbs and cranial nerves, seizures or loss of consciousness. On admission to our unit, he had spastic paraparesis with grade 4 muscle power and extensor plantar responses. A sensory level with impairment of pain, touch, temperature and joint position sense was present at the D8 segmental

level. Sacral sensation was lost. The gait was spastic, but he was able to walk with support. There were no neurological deficits in the upper limbs. Coordination was normal. He had urinary retention, and bilateral papilloedema. Higher cortical functions and other cranial nerves were normal. Except for a non-tender, firm enlargement of the liver extending 3 cm below the right costal margin, the rest of physical examination was normal. Magnetic resonance imaging (MRI) scan of the dorsal spine excluded a compressive myelopathy and demyelination. A contrast-enhanced computed tomography (CT) of the brain excluded an intracranial spaceoccupying lesion. The cerebrospinal fluid (CSF) was clear with 40 mg/ dl of proteins, 34/μL of lymphocytes and 4.9 mmo1/L of glucose (Blood glucose 6.2 mmo1/L). A polymerase chain reaction test for Mycobacterium tuberculosis was negative. Blood counts and blood picture showed neutrophil leucocytosis. Ultrasound scan of the abdomen showed a 3 cm hepatomegaly of uniform echo-pattern and no focal

1 Registrar, 2Resident Neurologist, 3Senior Registrar, 4Consultant Neurologist Institute of Neurology, National Hospital of Sri Lanka. Correspondence: AAPTC, 533/1A Elvitigala Mawatha, Colombo 5. e-mail: [email protected] (Competing interests: none declared). Received 21 April and revised version accepted 2 August 2003.

Vol. 48, No. 4, December 2003