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A young child with Hallervorden-Spatz syndrome is presented. She was well until 8 years of age when she lost interest in activities and her school performance declined. At age 11 years, she began having episodes of blepharospasm, accompanied by bilateral ptosis and occasional episodes of oculogyric crisis. By age 12 years, her motor coordination had declined and she began to exhibit evidence of dementia, dystonia, dysarthria, and tremor. Motor incoordination, dystonia, and tremor progressed until the patient was wheel-chair-bound. Multiple tests were performed, including metabolic studies, magnetic resonance imaging, bone marrow biopsy, and electron microscopy of the buffy coat. Both bone marrow and buffy coat revealed inclusions in the cytosomes which were granular and osmiophilic. To our knowledge, this is the third case report of inclusion bodies found in patients with manifestations of Hallervorden-Spatz syndrome. These findings suggest that obtaining a buffy coat and bone marrow biopsy may aid in the diagnosis of Hallervorden-Spatz syndrome and ultimately provide information regarding etiology.
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PMID:Osmiophilic deposits in cytosomes in Hallervorden-Spatz syndrome. 170 Jul 20

A 42-year-old woman was admitted for complaining of gait disturbance lasting for 2 years. She had a past history of hearing loss and bilateral ocular ptosis since her age of 21 years. Neurological examinations revealed severe external ophthalmoplegia, ptosis and muscular weakness of neck and extremities, but no dementia. Laboratory examinations showed high level of serum CK and slight elevations of CSF protein, lactate and pyruvate. The QT interval on ECG was prolonged. The EEG finding was slightly abnormal. The neurogenic pattern on EMG was noted. Muscle biopsy was performed at the quadriceps muscle. Its specimens demonstrated mixed changes of muscular atrophy and ragged red fibers. From these findings, Kearns-Sayre-Shy syndrome was diagnosed. It was noted in this case that brain MRI (T2-weighted image) revealed bilateral diffuse high signal intensity areas on cerebral white matter and brainstem. It seems that the lesions of central nervous system may progress subclinically for many years in cases of KSS, as our case shows.
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PMID:[A case of Kearns-Sayre-Shy syndrome with abnormal signal intensity on MRI in cerebral white matter and brainstem]. 193 67

We present a kindred with a previously undescribed combination of neuronal Charcot-Marie-Tooth disease, ptosis, parkinsonism, and mild dementia. The propositus, a 72-year-old man, had pes cavus, peripheral neuropathy, ptosis, parkinsonism, hyperreflexia, orthostatic hypotension, central hypoventilation, and mild dementia. Peripheral electrophysiologic studies showed features of an axonal neuropathy. The electroencephalogram showed intermittent 2 to 4 Hz activity symmetrically in the hemispheres. Several family members in 3 generations had pes cavus, neuropathy, ptosis, parkinsonism, and dementia although not all of the features were consistently present. Survival past the 7th decade was common. Autopsy in 2 affected members revealed the neuropathy to be axonal in type and showed mild to moderate loss of anterior horn cells in the spinal cord and pigmentary loss with gliosis in the substantia nigra. This is a unique, benign, autosomal dominant syndrome which shows complete penetrance, variable expression, and both central and peripheral nervous system involvement.
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PMID:Benign autosomal dominant syndrome of neuronal Charcot-Marie-Tooth disease, ptosis, parkinsonism, and dementia. 218 81

A clinicopathological report is presented of a British male, aged 59 years, who died after an illness of 10 years, manifested by progressive respiratory failure, ptosis, and dysphagia. At no time was there evidence of ophthalmoplegia, Parkinsonism or dementia. At necropsy the main finding was of neurofibrillary tangles in the neurons of the pontine and medullary reticular formation, with particularly severe involvement of the nucleus ambiguus, dorsal motor nucleus of the vagus and nucleus tractus solitarius. Morphologically, by light and electron microscopy and immunostaining, the tangles were similar to those of other neurofibrillary degenerative diseases. Although similar in some respects to progressive supranuclear palsy and amyotrophic lateral sclerosis of the Guam type, the combination of clinical and neuropathological features suggest that this is a distinct disease entity.
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PMID:Progressive medullary failure associated with neurofibrillary degeneration. 273 35

We report a 65-year-old woman with progressive dysarthria, dysphagia, weakness, and gait disturbance. The patient was well until 59 years of age (January of 1986) when she noted bilateral ptosis. One year later, she noted a gradual onset of difficulty in speech (articulation). Her speech slowly deteriorated and she noted weakness in chewing power and difficulty in swallowing in addition. In October 1987, she developed emotional incontinence. In January of 1988, she started to drag her left foot. She was admitted to our hospital on June 13 of 1988. On admission, she was alert and general physical examination was unremarkable. Neurologic examination revealed no dementia; her higher cerebral functions appeared intact. Ptosis was present bilaterally more on the right. She showed difficulty in opening her eyes on command; no contraction of the frontal muscles was seen upon attempted eye opening. There was a moderate limitation in the vertical gaze. Forced laughing and crying were seen. Facial muscles were moderately weak without apparent atrophy. The movement of the soft palate was very weak, and swallowing disturbance was more prominent for liquid staff. The tongue appeared somewhat small, however, no fasciculation was noted. Her step was small and the posture was stooped. Retropulsion was present, however, Romberg's sign was absent. No muscle atrophy was apparent, however, diffuse mile to moderate muscle weakness was noted in all four limbs. Cerebellar sign was absent. Deep tendon reflexes were exaggerated bilaterally, and Babinski sign was present on the left side. Sensation was intact. Routine blood tests were unremarkable as was a cranial CT scan. Her ptosis did not improve after 10 mg of edrophonium injection. CSF was also normal. She was transferred to another hospital but her neurological disabilities further progressed. In 1989, she was totally unable to move her limbs; she could only move her eyes; still consciousness was clear without dementia. She developed respiratory difficulty and expired on July 25, 1992. She was discussed in a neurological CPC, and the opinions were divided into ALS and primary lateral sclerosis (PLS). The chief discussant arrived at the conclusion that the patient might have had the pyramidal form of ALS. Postmorten examination revealed marked myelin pallor in the anterior as well as lateral corticospinal tracts. Pyramidal tract degeneration was prominent starting at the level of the cerebral peduncle and was continued to be seen until the level of lumbar cord. The number of anterior horn cells showed only slight decrease in the cervical level, however, it was normal in the lumbar cord.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[A 65-year-old woman with dysarthria, dysphagia, weakness, and gait disturbance]. 777 10

Peroneal muscular atrophy (PMA) may be occasionally associated with other neurodegenerative features including parkinsonism. We report the association of PMA of neuronal type with parkinsonism, ptosis and congenital strabismus in a 62-year-old Sicilian woman. The complete syndrome was present only in the proband, but variously combined features were present in ten other family members over four generations, with likely autosomal dominant inheritance. Although a similar syndrome of PMA, ptosis, parkinsonism and dementia was already reported, this family showed a previously undescribed combination of features in view of the presence of congenital strabismus.
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PMID:Peroneal muscular atrophy with parkinsonism, ptosis, and congenital strabismus. 825 67

We reported an autopsy case with recent memory disturbance, characterized by localized atrophy of parahippocampal gyrus, subiculum and amygdala. This patient initially exhibited recent memory disturbance at the age of 73. She was disoriented to time and place and immediately forgot having had a meal. At the age of 75, she was hospitalized because of progressive forgetfulness and congestive heart failure. One year later, she was admitted to our medical center. On admission, she was alert, but showed severe recent memory disturbance and disorientation to time and place. By contrast, she had neither aphasia nor apraxia. No other neurological symptoms were found. Brain CT showed localized atrophy of the medial part of bilateral temporal lobes and brain SPECT (123I-IMP) revealed a decrease of cerebral blood flow in the same regions. We considered her as early stage of Alzheimer type dementia (ATD) clinically. She died of pneumonia and DIC at the age of 78. Her illness lasted about 5 years. General autopsy showed prolapse of mitral valves, bronchopneumonia and DIC. The brain weighed 1,150 gm. Coronal sections of the brain revealed locarized atrophy of bilateral mediobasal part of the temporal lobes including the rostral parahippocampal gyrus, subiculum and amygdala. There were severe neuronal loss with astrogliosis and a few neurofibrillary tangles (NFT) in the rostral para-hippocampus, CA1 of the hippocampal formation, prosubiculum and amygdala. There were neither senile plaques (SP) nor NFT in the cerebral neocortex. This case lacked neocortical SP and NFT and showed bilateral localized atrophy of rostral parahippocampal gyrus, CA1, subiculum and related structure of the ventromedial temporal lobe with severe neuronal loss and astrogliosis.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[An autopsy case with recent memory disturbance, characterized by localized atrophy of parahippocampal gyrus, subiculum and amygdala]. 833 75

RECENT DESCRIPTION: Recent report have described "atypical" familial extrapyramidal syndromes similar to authentic Parkinson's disease and well-defined genetic diseases. PERRY SYNDROME: Onset occurs between 35 and 57 years, leading to death within 3 to 7 years. The syndrome associates a Parkinson's syndrome, athymormia and hypoventilation. Massive neuronal depopulation in the locus niger and rare Lewy bodies are seen. PARKINSON'S SYNDROME WITH PERIPHERAL NEUROPATHY: In addition to the extrapyramidal signs, there is ptosis, neuropathy and sometimes dementia and major neurone loss in the locus niger. No Lewy bodies have been identified. PARKINSON'S SYNDROME WITH PALLIDOPONTONIGRAL DEGENERATION: Onset occurs between 32 and 58 years, leading to death within 8 years. Extrapyramidal signs, falls, supranuclear palsy and dementia are observed. Neurone loss is severe in the pars compacta, locu sniger, palladium, pons, and mesencephalic tegmentum. There are no Lewy bodies. EARLY-ONSET PARKINSON'S SYNDROME: Beginning between 2 and 39 years, there are no associated neurological signs. Severe neurone loss in the pars compacta and the pars reticulata of the niger locus without Lewy bodies. PARKINSON'S SYNDROME-DEMENTIA WITH "BALLOON NEURONES": This syndrome begins at 24-59 years and leads to death in 8 to 11 years. There are extrapyramidal signs, a pyramidal syndrome, dementia, generalized seizures and dysautonomia. Major neurone loss occurs with balloon neurones in the anterior temporal cortex, the amygdala, the parahippocampal gyrus, the hypothalamus, the dorsal nucleus of the X and rare Lewy bodies. PARKINSON'S SYNDROME FRONTAL DEMENTIA AND AMYOTROPHY: Beginning between 27 and 56 years, the syndrome leads to death in 13 years and associates frontal dementia with motor neurone defects with the extrapyramidal signs. There is neurone loss in the locus niger and amygdala as well as in the anterior horn of the cord. There are no Lewy bodies. SPECIFIC CLINICOPATHOLOGICAL ENTITIES: is the most likely hypothesis. There is no anatomoclinical evidence suggesting these syndromes should be considered to be Parkinson's disease.
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PMID:[Atypical familial parkinsonian syndromes. Parkinson diseases or specific entities?]. 912 34

We studied the clinical features and molecular genetics of a family, afflicted with a form of atypical parkinsonism, originating from the Madeira Islands of Portugal. We examined four affected individuals and reviewed clinical information on one other affected family member. Mean age at onset was 31 years. Parkinsonism (akinesia, rigidity, gait disturbance) was the most prominent feature in advanced disease. Levodopa responsiveness with peak-dose dyskinesia was present in one individual. Initial symptoms and other clinical features were variable and included other extrapyramidal signs (dystonia, action tremor of the limbs and bulbar muscles, synkinesis), ophthalmologic abnormalities (ptosis, slow saccades, progressive external ophthalmoplegia, hypometric saccades, saccadic pursuit movements), speech abnormalities (dysarthria, hypernasality), cortical impairment (dementia, frontal lobe dysfunction, palilalia, perseveration), minor cerebellar signs (dysmetria, gait ataxia), pyramidal abnormalities (spasticity, hyperreflexia), and peripheral nervous system abnormalities (propioceptive loss, areflexia, distal weakness, atrophy). The length of trinucleotide repeats in the MJD1 gene was in the normal range for all affected individuals.
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PMID:Atypical parkinsonism in a family of Portuguese ancestry: absence of CAG repeat expansion in the MJD1 gene. 915 59

Neurocysticercosis commonly presents with seizures, raised intracranial tension and dementia. The unusual location of the cysts may result in uncommon manifestations mimicking a host of neurological disorders. Ten patients with neurocysticercosis with rare clinical presentations have been described in this series. These include dorsal midbrain syndrome, isolated bilateral ptosis, papillitis, cerebral hemorrhage, painful cervical radiculopathy, progressive swelling of arm, paraplegia due to intramedullary cyst, third ventricular cyst, dystonia and nominal aphasia masquerading as transient ischaemic attacks. The clinical details and possible mechanisms for these rare presentations are discussed.
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PMID:Uncommon presentations of neurocysticercosis. 954 30


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