We studied various forms of dystonia associated with Parkinson's disease (PD) in 207 patients who were on levodopa therapy for more than 1 year. Dystonia, sometimes more than one type, occurred in 63 (30%). In five patients, dystonia preceded initiation of treatment. Fifteen patients had peak-dose dystonia, 33 had early-morning dystonia, and 20 had "off-period" dystonia. The different clinical features of the dystonias are presented and compared. Findings indicate that dystonia is a frequent feature of levodopa-treated PD patients.
Adult polyglucosan body disease (APBD) is a rare glycogenosis manifesting progressive spastic paraparesis, sensorimotor polyneuropathy and neurogenic bladder. Misdiagnosis of APBD may lead to unnecessary investigations and to potentially harmful therapeutic interventions. To examine the frequency of misdiagnosis of APBD, we retrospectively reviewed the clinical data of 30 patients diagnosed between 1991 and 2013. Diagnosis was based on the combination of typical clinical and imaging findings, reduced glycogen branching enzyme activity, and the presence of p.Y326S GBE1 mutation. Initial symptoms started in the 5th-6th decade with bladder dysfunction (47 %), gait problems (33 %) or both. Diagnosis of APBD was delayed by 6.8 (±4.8) years. Consistent signs at diagnosis were spasticity in the legs (93 %), decreased or absent ankle reflexes (100 %), bilateral extensor plantar response (100 %) and distal sensory deficit (80 %). Nerve conduction study showed invariable sensorimotor polyneuropathy, and MRI demonstrated cervical spinal cord atrophy (100 %) and leukoencephalopathy (97 %). All 30 patients were initially misdiagnosed. Common misdiagnoses included cerebral small vessel disease (27 %), multiple sclerosis (17 %), amyotrophic lateral sclerosis (17 %) and peripheral neuropathies (20 %). Consequently, 27 % received inappropriate therapy. In addition, lower urinary tract symptoms in 60 % of men were attributed solely to prostatic disorders but did not respond to medical treatment or prostatectomy. These findings suggest that despite limited clinical variability, APBD is invariably misdiagnosed and patients are often mistreated. Physicians' unfamiliarity with the typical clinical and imaging features of APBD appears as the main reason for misdiagnosis.
Two young Arab women presented with a very rapid loss of vision, ophthalmoplegia, florid papilledema, areflexia of the lower limbs, and normal mentation. Lumbar puncture pressure was above 60 cm H2O, but no intracranial structural lesion was found in either patient. An exhaustive evaluation as to an etiology was negative in both. Under continuous lumbar cerebrospinal fluid drainage and administration of steroids, furosemide, and acetazolamide, both patients had significantly improved vision and ocular movement. In both, lumboperitoneal shunting was considered but only one eventually underwent this procedure. These two patients with pseudotumor cerebri are unique in their fulminant clinical course and severely increased intracranial pressure. Virtually inevitable blindness was prevented by timely intervention.
Three patients with severe athetoid-dystonic type of cerebral palsy involving the neck musculature developed in their fourth to fifth decade progressive cervical radiculomyelopathy associated with vertebral spondylarthrotic compressive lesions in addition to their long-standing neurological syndrome. It is likely that the late-onset myelopathy is linked to continuous torsion, compression and ‘wear and tear’ of the cervical spinal cord, induced by the involuntary movements. In 2 patients decompressive cervical spinal surgery was ineffective, suggesting irreversible damage.
In five patients with peripheral neuropathy due to vitamin B12 deficiency, electrodiagnostic studies demonstrated severe reduction in sensory nerve conduction velocities compatible with a demyelinating disorder affecting sensory nerve fibres. It is suggested that in some patients lack of vitamin B12 may cause primary sensory demyelinating neuropathy.
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