1/22. Lower motor neuron disease associated with myelofibrosis.We present a patient who has signs pointing to the involvement of lower motor neurons and myelofibrosis. To our knowledge, unlike lymphoproliferative disorders, co-occurrence of myelofibrosis and lower motor neuron disease (MND) has not been reported so far. A 64-year-old male patient was admitted to our hospital with the complaint of painful cramps in his neck and forearms. On physical examination marked hepatomegaly and splenomegaly were found. On neurologic examination nasal quality of the voice and slight palatal weakness were detected. There were generalised slight weakness and atrophy in both proximal and distal muscle groups. Fasciculations were observed especially in forearm muscles and it was observed that he had been avoiding head movements because of painful muscle cramps. Deep tendon reflexes were hypoactive. Nerve conduction studies were normal. By needle electromyography, giant motor unit action potentials (amplitudes up to 8 mV), fibrillation potentials, positive sharp waves and fasciculation potentials were detected in all muscles which were investigated. A hypercellular bone marrow (100%) was determined by bone marrow biopsy. In addition to increased production of the myeloid and megakaryocytic lines, abnormal aggregation and grouping of megakaryocytes were seen. Reticular fibers were increased. He had some benefit of dyphenilhydantoin treatment given for the painful cramps in his neck and forearm muscles. hydroxyurea treatment was started for myelofibrosis. Six months later, his general condition was better, and the painful cramps were completely resolved. No marked deterioration has been detected in neurologic examination and electromyography for 1 year.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
2/22. Focal polymicrogyria in mother and son.This 9-year-old boy was admitted at the age of 2 with a diagnosis of congenital hemiparesis while the rest of physical and neurological examination was normal. His score in the Wechsler intelligence scale was 80. Right fronto-parietal cortical dysplasia with hemisphere atrophy was evident by computerized tomography scanning and magnetic resonance imaging. The latter, also disclosed abnormal thick cortex which was interpreted as polymicrogyria or pachygyria. karyotype was normal. He had a hemifacial motor seizure at the age of 7. At the age of 8 frequent atonic or inhibitory seizures were presented. Asymmetric bilateral spike discharges with high voltage in the right hemisphere during the EEG recording were found. His mother, a 35-year-old woman (Full scale; adult intelligence scale: 85) also had congenital hemiparesis. She never had seizures and her EEG was normal. magnetic resonance imaging disclosed right fronto-parietal cortical dysplasia with ipsilateral hemisphere atrophy. karyotype was normal. Our cases should be interpreted as a familial presentation of the anomaly, probably with autosomal-dominant transmission.- - - - - - - - - - ranking = 0.17673372982172keywords = physical (Clic here for more details about this article) |
3/22. Progressive dysgraphia in a case of posterior cortical atrophy.Dysgraphia (agraphia) is a common feature of posterior cortical atrophy (PCA). However, detailed analyses of these spelling and writing impairments are infrequently conducted. LM is a 59-year-old woman with dysgraphia associated with PCA. She presented with a two-year history of decline in her writing and dressmaking skills. A 3D T1-weighted MRI scan confirmed selective bi-parietal atrophy, with relative sparing of the hippocampi and other cortical regions. Analyses of LM's preserved and impaired spelling abilities indicated mild physical letter distortions and a significant spelling deficit characterised by letter substitutions, insertions, omissions, and transpositions that was systematically sensitive to word length while insensitive to real word versus nonword category, word frequency, regularity, imagery, grammatical class and ambiguity. Our findings suggest a primary graphemic buffer disorder underlies LM's spelling errors, possibly originating from disruption to the operation of a fronto-parietal network implicated in verbal working memory.- - - - - - - - - - ranking = 0.17673372982172keywords = physical (Clic here for more details about this article) |
4/22. Ataxic variant of adrenoleukodystrophy: MRI and CT findings.A 28-year-old man developed slowly progressive dysarthria and gait disturbance over 7 years. Neurological examination revealed marked ataxia of articulation and gait, mild ataxia and spasticity of all four limbs without intellectual, visual, auditory, sensory or sphincter dysfunction. No physical signs of adrenal hypofunction were found. However, analysis of fatty acid of plasma sphingomyelin showed an increase in very long chain fatty acids, compatible with the diagnosis of adrenoleukodystrophy. Computed tomography disclosed marked atrophy of the cerebellum and pons, and bilateral low-density lesions in the deep while matter of the cerebellum. magnetic resonance imaging showed these lesions more clearly, as well as other lesions in the middle and superior cerebellar peduncles, despite the absence of cerebral white matter involvement at the time of presentation. This is a rare case of adrenoleukodystrophy presenting as spinocerebellar degeneration and showing marked atrophy and several parenchymatous lesions of the cerebellum and brain stem.- - - - - - - - - - ranking = 0.17673372982172keywords = physical (Clic here for more details about this article) |
5/22. Paroxysmal autonomic alterations mimicking epilepsy: a case report.A 22-year-old male patient presented with paroxysmal hyperhidrosis, mydriasis, hypertension, and tachycardia. Cranial and cervical MRI revealed focal atrophy in the high order zone of the central autonomic network and syringomyelia. His physical and neurological examinations were unremarkable. Physiological testing included EEG, SPECT, serum/urine tests and autonomic testing. A poor response was achieved with the medical and interventional procedures employed. As the central autonomic network is an integral component of the internal regulation system of the brain, any lesion, no matter where in the network, may lead to paroxysmal autonomic alterations mimicking epilepsy (Published with videosequences).- - - - - - - - - - ranking = 0.17673372982172keywords = physical (Clic here for more details about this article) |
6/22. shaken baby syndrome manifesting as chronic subdural hematoma: importance of single photon emission computed tomography for treatment indications--case report.A boy with shaken baby syndrome first presented at age 3 months with acute subdural hematoma (SDH) and was treated by subdural tapping at a local hospital. Chronic SDH was identified at a rehabilitation center at age 19 months. The chronic SDH appeared to have developed within the preceding 16 months. His physical and mental development was already delayed. Magnetic resonance (MR) imaging revealed a 20-mm thick right chronic SDH with midline shift and small bilateral subdural effusions. The chronic SDH had compressed the right cerebral hemisphere. MR imaging also disclosed bilateral cerebral atrophy. 99mTc-ethylcysteinate dimer single photon emission computed tomography (SPECT) revealed decreased cerebral blood flow (CBF) in the non-hematoma hemisphere, although CBF is said to decrease on the chronic SDH side, especially if midline shift is present. Burr hole craniotomy with external drainage was performed, but the patient showed no change in CBF postoperatively, although the volume of hematoma decreased. The patient was clinically unchanged immediately after the operation. In this case, SPECT measurement of CBF was important in evaluating the pathophysiology of the delays in physical and mental growth. atrophy of the bilateral hemispheres was the major mechanism in the decreased CBF, not the compression by chronic SDH. MR imaging and SPECT can determine the surgical indications for chronic SDH in patients with cortical atrophy.- - - - - - - - - - ranking = 0.35346745964345keywords = physical (Clic here for more details about this article) |
7/22. Progressive posterior cortical dysfunction: a clinicopathologic series.BACKGROUND: Atypical presentations of neurodegenerative dementing disorders include the syndrome of progressive posterior cortical dysfunction (PPCD) involving selective higher order visuospatial deficits. The neuropathologic correlates of PPCD remain poorly defined. methods: This is a retrospective case series of 27 individuals (14 men, 13 women) diagnosed clinically with PPCD. Participants were either enrolled in the Alzheimer's Disease research Center (ADRC) or referred to the memory diagnostic center of an urban academic medical center. Clinical evaluations included physical and neurologic examinations, the Clinical dementia Rating (CDR), and psychometric measures. Neuropathologic examinations were completed in 21 individuals with PPCD. Psychometric measures from 65 individuals with mild dementia of the Alzheimer type (DAT) enrolled in the ADRC were used for comparison. RESULTS: Neuropathologic etiologies of PPCD were alzheimer disease (AD) (n = 13), AD plus parkinson disease (n = 1), AD-Lewy body variant (n = 2), dementia with lewy bodies plus progressive subcortical gliosis of Neumann (n = 1), corticobasal degeneration (n = 2), and prion-associated diseases: Creutzfeldt-Jakob disease (n = 1) and fatal familial insomnia (n = 1). Confirming the clinical impression, psychometric profiles for individuals with PPCD differed from those of people with DAT alone and revealed disproportionate deficits on measures of visuospatial ability. CONCLUSIONS: AD was the most frequent cause of PPCD in this series, although non-Alzheimer's dementing disorders also should be considered.- - - - - - - - - - ranking = 0.17673372982172keywords = physical (Clic here for more details about this article) |
8/22. Long anterior lens zonules in late-onset retinal degeneration (L-ORD).PURPOSE: We report new findings of peripupillary iris atrophy and long anteriorly-inserted zonules in a family with late-onset retinal degeneration (L-ORD). DESIGN: The proband was noted to have anterior segment findings not previously described in L-ORD, an autosomal dominant condition resulting in severe visual impairment. A mutation in the C1QTNF5 (CTRP5) gene is causal. We identified family members with anterior segment findings. methods: family members were examined with slit-lamp biomicroscopy and psychophysical tests including dark adaptation and visual fields. genetic testing for the C1QTNF5 mutation was carried out. RESULTS: In this family with a proven mutation in this gene, peripupillary iris atrophy and abnormally long anterior zonular insertions were present before retinal changes and visual loss. CONCLUSIONS: Anterior segment findings have not previously been reported and along with impaired dark adaptation may serve as an early marker for this condition thus facilitating counseling and possible therapeutic intervention.- - - - - - - - - - ranking = 0.17673372982172keywords = physical (Clic here for more details about this article) |
9/22. Unusual presentation of hypophysitis preceding an empty sella in a 75-year-old woman.A 75-year-old woman complained about progressing fatigue. She appeared somnolent, but fully oriented and in no acute distress. Her face was pale and puffy. She did not show any signs of focal neurological disease, and the remainder of the physical examination was unrevealing. Routine laboratory tests were unremarkable except for hyponatremia and mildly decreased levels of free T3 and free T4, with TSH in the normal range. pituitary function tests demonstrated secondary adrenal insufficiency and hypothyroidism. magnetic resonance imaging (MRI) unmasked hypophysitis with the characteristic findings of homogeneous gadolinium uptake of the pituitary and a prominent pituitary stalk ('dural tail sign', arrows in Fig. 1 A and B, sagittal and coronal views). Substitution of hydrocortisone and levothyroxine resulted in rapid and sustained improvement of all symptoms and normalisation of laboratory findings. MRI abnormalities normalized within the following six months. At follow-up three years later, MRI signs had further regressed and demonstrated an empty sella (Fig. 2 A and B).- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
10/22. Idiopathic atrophie blanche.A 41-year-old woman presented with a 3-year history of purpuric lesions followed by superficial, painful ulcers and development of lesions on the lower legs and on the dorsa of the feet, particularly in the summer. The patient was asymptomatic during the winter months. On physical examination she had irregular, scleroatrophic, white-ivory, coalescent lesions on a livedoid basis, with purpuric and, in some lesions, pigmented borders with numerous telangiectatic capillaries. These lesions were localized on the medial sides of the lower legs and on the dorsa of the feet (Figure 1). Laboratory investigations were normal or negative, including complete blood cell count, platelets, coagulation indexes, erythrocyte sedimentation rate, serum immunoglobulins, antinuclear antibodies, anti-double-stranded dna, anticardiolipin, antiphospholipids, antineutrophilic cytoplasmic antibodies, circulating immunocomplexes, complement fractions (C3, C4), cryoglobulins, rheumatoid factor, and Rose-Waaler reaction. The only laboratory abnormality was an elevated fibrinogen level (472 mg/dL). Doppler velocimetry excluded a chronic venous insufficiency. Thoracic x-ray and abdominal ultrasound were normal. A digital photoplethysmograph revealed functional Raynaud's phenomenon. A biopsy specimen taken from a purpuric lesion showed an atrophic epidermis with parakeratosis and focal spongiosis. An increased number of small-sized vessels were observed within a sclerotic dermis. Most of the vessels in the upper dermis were dilated and showed endothelial swelling; some were occluded due to amorphous hyaline microthrombi (Figure 2). There were fibrinoid deposits around the vessels with thickening of the vessel walls. Extravasated erythrocytes were found throughout the upper and mid-dermis. There was a sparse perivascular lymphocytic infiltrate but no vasculitis. Direct immunofluorescence showed a perivascular microgranular deposit of IgM ( ), C3 ( ), and fibrinogen/fibrin ( ). On the basis of clinical, serologic, histopathologic, and immunopathologic findings, a diagnosis of idiopathic atrophie blanche was made. The patient was treated with dapsone (50 mg p.o. q.d.) and pentoxifylline (400 mg p.o. t.i.d.) with pain relief and complete resolution of the ulcerations after 6 weeks of therapy.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
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