1/125. The rontgenographic findings in the acute neuronopathic form of Niemann-Pick disease.The rontgenographic changes are described in two patients with the acute neuronopathic form of Niemann-Pick disease. These consist of metaphyseal splaying, osteoporosis and the quadrate appearance of the lumbar vertebrae with relatively long pedicles. The parenchymatous involvement is manifested by interstitial lung changes, enlargement of liver, spleen and kidney and distended intestinal loops with an abnormal mucosal pattern associated with prolonged transit time of the contrast material. The differential diagnosis of the above changes is discussed.- - - - - - - - - - ranking = 1keywords = contrast (Clic here for more details about this article) |
2/125. Mosaic trisomy 7 in a patient with pigmentary abnormalities.Somatic chromosomal mosaicism may present as isolated pigmentary abnormalities or multiple congenital anomalies with mental retardation. Pigmentary lesions are visually dramatic and are differentiated based on appearance when the underlying pathogenesis is not known. It is now clear that mosaicism is responsible for the pigmentary findings in hypomelanosis of Ito (HI) and linear and whorled nevoid hypermelanosis (LWH). Both hypopigmentation and hyperpigmentation have been noted in the same individual, and both LWH and HI can be caused by similar chromosomal abnormalities. Both of these conditions exhibit similar systemic involvement. We present a case of LWH associated with mosaic trisomy 7 and review the relevant literature.- - - - - - - - - - ranking = 0.7443291041907keywords = visual (Clic here for more details about this article) |
3/125. Focal neurological manifestations following aberrant central venous catheter placement.An infant developed focal tonic clonic movements of both lower limbs while receiving total parenteral nutrition through a left saphenous percutaneous central venous catheter. Radiographic studies using a contrast confirmed that the catheter tip was located in the ascending lumbar vein in close proximity to the epidural space. Withdrawal of the catheter abated all clinical symptoms. This case emphasizes the need to confirm central venous catheter placement and illustrates yet another risk associated with the infusion of parenteral alimentation.- - - - - - - - - - ranking = 1keywords = contrast (Clic here for more details about this article) |
4/125. Compound heterozygous group A xeroderma pigmentosum patient with a novel mutation and an inherited reciprocal translocation.The severity of neurological abnormalities in Japanese group A xeroderma pigmentosum (XP-A) patients correlates with the sites of non-sense mutation in the XP-A gene. We describe a patient who presented with a more severe photosensitivity and neurological abnormality than those in typical Japanese XP-A patients with a splicing mutation in intron 3. The patient was compound heterozygous for the splicing mutation in intron 3, which resulted in formation of a non-sense codon in exon 4, and a novel non-sense mutation at codon 208 in exon 5, a C to T transition creating a stop codon TAG. Although the combination of these mutations might have been thought to cause only mild neurological signs, the longer truncated XP-A proteins than those of typical XP-A patients may have resulted in severe neurological symptoms. This phenomenon may be explained by a translocation of chromosome (1;10)(q25.3;q22.3) inherited from his father.- - - - - - - - - - ranking = 5.0483921953095keywords = sensitivity (Clic here for more details about this article) |
5/125. Neurosarcoidosis diagnosed during pregnancy by thoracoscopic lymph node biopsy. A case report.BACKGROUND: sarcoidosis is a multiorgan-system granulomatous disease causing respiratory complaints in most patients. eye involvement, most commonly granulomatous uveitis, is seen in 5% of black patients with sarcoidosis. Neurosarcoidosis is also rare, affecting 5% of patients with sarcoidosis. Thoracoscopic lymph node biopsy in pregnancy has never before been reported. CASE: An otherwise-healthy, 25-year-old woman, gravida 2, para 1001, presented at 25 weeks' gestation with a painful facial palsy and visual defects. Ophthalmologic examination revealed uveitis, and a chest radiograph revealed asymmetric hilar adenopathy. At 28 weeks' gestation, the patient underwent thoracoscopic lymph node biopsy, which confirmed the diagnosis of sarcoidosis. The symptoms were stabilized with therapeutic corticosteroids, and the patient delivered a healthy neonate at term. CONCLUSION: The diagnosis of sarcoidosis remains one of exclusion and requires a high index of suspicion. Tissue confirmation is often necessary, especially when patients have extrathoracic complaints. For patients without other lesions amenable to biopsy, thoracoscopic lymph node biopsy can be considered despite pregnancy.- - - - - - - - - - ranking = 0.7443291041907keywords = visual (Clic here for more details about this article) |
6/125. Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe phenotype.Controversy exists over the distinction between cardio-facio-cutaneous (CFC) syndrome and noonan syndrome (NS). Several authors have suggested that they are different phenotypes of the same condition. We present the cases of two patients with CFC syndrome to show that it is a distinct condition with a unique combination of findings and a more complex natural history. These patients, both girls, were born with signs of fetal edema following pregnancies complicated by polyhydramnios. Each has short stature with relative macrocephaly; fuzzy, sparse hair; and the typical craniofacial features, including a square forehead. Both have heart abnormalities, failure to thrive, and severe feeding problems requiring gastrostomy. They are markedly hypotonic and developmentally delayed. They show signs of frequent eyelid fluttering and have oral aversion, tactile hypersensitivity, and sensory integration abnormalities. keratosis pilaris, the characteristic skin symptom, is also present in both patients. In a review we identified 56 cases of CFC syndrome. We scored these cases by 10 clinical criteria and identified a subset with a specific, severe phenotype distinct from that of NS. The serious neurologic and gastrointestinal complications, in addition to the skin abnormalities and characteristic facies in this group, clearly separate these patients from the mildly affected ones, most of whom appear to have NS or another syndrome. We discuss the differences between the severe CFC phenotype and those of overlapping conditions. We set forth stringent diagnostic criteria for CFC syndrome, the initial step toward identifying a molecular basis for this condition.- - - - - - - - - - ranking = 5.0483921953095keywords = sensitivity (Clic here for more details about this article) |
7/125. A case of atypical idiopathic orbital myositis mimicking neurological disease.A 24 year old patient with acute double vision and headache was admitted to our clinic. A diagnosis of orbital myositis was confirmed after magnetic resonance imaging and orbital echogram. No other clinical manifestations were observed on general examination. Since orbital myositis cases with only neurological symptoms and without typical visual impairment are not frequent, we decided to present this case.- - - - - - - - - - ranking = 0.7443291041907keywords = visual (Clic here for more details about this article) |
8/125. Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease.A male infant with hyperpipecolic acidemia is described. To our knowledge this is only the second report of this disorder. As with the previous case, our patient's course was characterized by persistent hepatomegaly, severe mental retardation, progressive loss of developmental milestones and diminished visual acuity associated with nystagmus, abnormal discs and retinal changes. death occurred at 2 years of age, following a progressive loss of neurological function. Pipecolic acid was repeatedly present in the serum at a concentrattion of 4-5 mg %. Trace amounts of this compound were also detected in the urine. In addition, an adaption of the method of Piez et al. (1956) for the direct quantitation of pipecolic acid in serum was evaluated and found to be very useful for the biochemical diagnosis of this disorder.- - - - - - - - - - ranking = 0.7443291041907keywords = visual (Clic here for more details about this article) |
9/125. Partial and significant reversal of progressive visual and neurological deficits in multiple sclerosis: a possible therapeutic effect.A 24-year-old woman developed over 18 months fluctuating and progressively increasing visual and cerebellar deficits, due to multiple sclerosis. The minimum visual acuities were 3/19 on the right and the perception of finger movement at 1 m on the left. She became able to walk only with a wide base and with support. Her condition deteriorated despite the use of methylprednisolone, prednisone and interferon beta-1b, so these were ceased. azathioprine, 25 mg daily increasing to 100 mg daily, reducing following abnormal liver function tests to 50 mg daily, and glatiramer acetate 20 mg daily were commenced. The visual acuities two months later were 3/7.5 on the right and 3/6 on the left and after 4 months 3/4.5 on the right and 3/3 on the left. She was able after 2 months to walk unaided on a narrow base and after 4 months to jog half a kilometre without difficulty. Progressive multiple sclerosis has been held to be irreversible. The response in the present case therefore raises the possibility of a drug effect. It indicates the need for trials of combined immunomodulatory and immunosuppressive therapies in progressive multiple sclerosis.- - - - - - - - - - ranking = 5.2103037293349keywords = visual (Clic here for more details about this article) |
10/125. Necrotizing neurosarcoidosis of the cranial base resembling an en plaque sphenoid wing meningioma: case report.OBJECTIVE AND IMPORTANCE: Necrotizing sarcoid granuloma (NSG) has been recognized as a histological variant of sarcoidosis. Two cases of neurosarcoidosis (NS) with NSG with concomitant systemic disease have been described previously. We present an unusual case of primary NS-NSG that resembled an en plaque cranial base meningioma. CLINICAL PRESENTATION: A 51-year-old man presented with a 3-month history of progressive left visual deterioration and proptosis. brain magnetic resonance imaging demonstrated a large cranial base lesion occupying the left anterior clinoid process and sphenoid wing, extending to the left frontotemporal convexity. A second dura-based lesion was observed in the right parietal convexity. Both lesions enhanced homogeneously after administration of intravenous contrast medium. magnetic resonance imaging characteristics were consistent with a typical clinoidal meningioma with an en plaque extension laterally. INTERVENTION: A left frontotemporal craniotomy with extradural removal of the anterior clinoid process was performed. When the dura was opened, a red fibrous mass was identified. Intraoperative histological analysis revealed the presence of necrotizing and noncaseating granulomas. Postoperatively, cerebrospinal fluid, erythrocyte sedimentation rate, c-reactive protein, and serum and cerebrospinal fluid angiotensin-converting enzyme values were normal. The search for acid-fast bacilli or fungi was negative. A diagnosis of primary NS-NSG was made. The patient began long-term high-dose corticosteroid therapy. One and a half years after surgery, his vision had improved significantly and the lesions were stable as revealed by magnetic resonance imaging. CONCLUSION: The first case of primary NS-NSG in the absence of systemic sarcoidosis is reported. NS should be included in the differential diagnosis of dura-based lesions resembling meningioma.- - - - - - - - - - ranking = 1.7443291041907keywords = contrast, visual (Clic here for more details about this article) |
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