1/72. Optic disc edema in neonatal onset multisystem inflammatory disease (NOMID).PURPOSE: To inform ophthalmologists about neonatal onset multisystem inflammatory disease (NOMID), a rare condition with ophthalmologic manifestations. methods: We report a single case of NOMID with optic disc edema. RESULTS: A 28-month-old child with neonatal rash, arthropathy, central nervous system (CNS) involvement, and optic disc edema was diagnosed with NOMID. CONCLUSIONS: The finding of posterior uveitis or optic disc edema in a child with juvenile onset arthritis may allow the differentiation of NOMID from juvenile rheumatoid arthritis.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
2/72. oral manifestations of Schimmelpenning syndrome: case report and review of literature.Schimmelpenning syndrome (SS) is characterised by specific skin manifestations, skeletal defects, and central nervous system abnormalities. Here, the SS is briefly reviewed, and the oral and dental manifestations are described in a patient whose medical findings were previously published and included severe hypophosphatemic rickets. Significant oral and dental features included papillomatous lesions of the gingiva, hemihyperplasia (hemihypertrophy) of the tongue, bone cysts, aplasia of teeth, enlarged pulp chambers, hypoplastic or absent enamel, and an odontodysplasia-like permanent tooth.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
3/72. Glial heterotopia in the subcutaneous tissue overlying T-12.Heterotopic glial nodules occur most commonly in the head and neck area, and are theorized to arise following abnormalities in the development of the facial and skull bone plates. However, in spite of the fact that some of these lesions are associated with communication with the central nervous system (CNS), the lack of a meningeal component, argues against simple herniation and separation of brain tissue through a defect in the skull. We present an infant with a nodule directly over the spine present in the T-12 region with no skin abnormalities. magnetic resonance imaging (MRI) and computerized axial tomography (CT) showed no spinal abnormalities with an overlying fibrotic soft tissue mass. The patient had no other associated clinical findings. Histologic findings showed a cellular component arising within the reticular dermis with a deep circumscribed margin. The nodule contained irregularly shaped cells containing abundant cytoplasm and indistinct cellular margins with bland nuclei. These cells were clustered around and between a fibro-mucinous stroma. Immunohistochemical stains showed positive staining for S-100 protein, vimentin, GFAP, NSE, and CD57, and negative staining for Ki-67, CD34, Neurofilament protein, cytokeratin, and EMA. The spindle cells showed positive staining for CD34 and vimentin. The clinical and histologic features and immunohistochemical profiles are used to separate this lesion from the closely related, ependymal rests, ependymomas, and primary cutaneous chorodomas.- - - - - - - - - - ranking = 1.0442386892128keywords = central nervous system, nervous system, brain (Clic here for more details about this article) |
4/72. A novel missense mutation (C622G) in the zinc-finger domain of the human hairless gene associated with congenital atrichia with papular lesions.Congenital atrichia with papular lesions is a rare, recessively inherited form of hair loss characterized by a complete absence of all body hair shortly after birth. Mutations in the human ortholog of the mouse hairless (hr) gene have been implicated in the pathogenesis of this disorder. In this study, we screened, by direct sequence analysis, the hairless gene in a family of Polish descent and identified a novel missense mutation (C622G). The mutation alters the third of four invariant cysteins in the zinc-finger domain, which has high homology to the C-X-X-C-(X)17-C-X-X-C structure of the zinc-fingers of the GATA family of transcription factors. The human hairless gene encodes a putative transcription factor with restricted expression in the brain and skin, which is involved in the regulation of apoptosis during catagen remodeling in the hair cycle.- - - - - - - - - - ranking = 0.04423868921284keywords = brain (Clic here for more details about this article) |
5/72. Cutaneous manifestations of marantic endocarditis.A 70-year-old patient with a history of hypertension and hypercholesterolemia was referred for evaluation of necrotic toes. The patient had a history of several cerebrovascular accidents during the previous month. Initially, she developed sudden-onset left upper extremity weakness which, over the ensuing 4 days, progressed to complete left-sided weakness. This was followed by the development of acute dysarthria. A transesophageal echocardiogram revealed moderate left ventricular hypertrophy, several vegetations on her tri-leaflet aortic valve associated with moderate aortic regurgitation, and a large right atrial thrombus with a mobile component. Bubble studies failed to reveal any septal defects. The patient's electrocardiogram was nonspecific. As serial blood cultures were negative despite fevers of up to 39.8 degrees C, the patient was treated with a 6-week course of intravenous ceftriaxone, ampicillin, gentamicin, and ciprofloxacin for a presumed diagnosis of culture-negative endocarditis. Fungal cultures of the blood were negative. The patient, however, progressed and developed several necrotic toes. physical examination was significant for ischemic changes of the left first, second, third, and fifth toes, as well as the right first and second toes. Diffuse subungual splinter hemorrhages in the toenails, numerous 2-4-mm palpable purpuric papules on the lower extremities, and nontender hemorrhagic lesions of the soles were also noted. Peripheral and carotid pulses were intact and no carotid bruits were heard. Cardiopulmonary and abdominal examinations were unremarkable. neurologic examination revealed a disoriented, dysarthric patient with left central facial nerve paralysis, as well as spasticity, hyperactive reflexes, and diminished strength and sensation in the left upper and lower extremities. A left visual field defect and left hemineglect were also present. The patient's last brain computerized tomogram revealed areas of low attenuation consistent with cerebral infarctions in three distinct areas of the brain. These included the left occipitotemporal area, the right parieto-occipital area, and the right posterior frontal region. The regions affected were in the distribution of both the anterior and posterior circulation. No evidence of hemorrhage was noted. The patient subsequently complained of abdominal discomfort. A computerized tomogram of the abdomen with oral and intravenous contrast revealed a 4-cm x 3-cm irregular mass in the tail of the pancreas with several low-attenuation lesions throughout the liver which were consistent with infarctions or metastases. Several splenic infarctions were also present. A biopsy of the tumor revealed pancreatic adenocarcinoma. The patient's carcinoembryonic antigen level was 18. 4 ng/mL (0-3) and the CA 19-9 antigen level was 207,000 U/mL (0-36). The alpha-fetoprotein level was normal. Other significant laboratory findings included a prothrombin time of 16.7 (international normalized ratio, 1.4), an activated partial thromboplastin time of 32 (ratio, 1.3), and a platelet count of 85,000/mm3. The Russell viper venom time, sedimentation rate, and C3 levels were normal, and the patient was negative for antinuclear antibodies, anticardiolipin antibodies, and antibodies to extractable nuclear antigens. Of note, the patient was not receiving any anticoagulation. blood cultures for mycobacteria and fungi, human immunodeficiency virus serology, and urinalysis and culture were negative. The patient subsequently developed an inferior wall myocardial infarction and was transferred to the coronary care unit. In line with the family's request, aggressive care was ceased and the patient expired. The patient's family refused an autopsy.- - - - - - - - - - ranking = 0.088477378425679keywords = brain (Clic here for more details about this article) |
6/72. Benign cephalic histiocytosis with diabetes insipidus.Benign cephalic histiocytosis is a rare skin condition consisting of small tan papules on the face and upper trunk that is believed not to be associated with internal organ involvement. The infiltrating histiocytes are not Langerhans' cells (LCs). We report a 5-year-old girl who presented with diabetes insipidus 1 year after developing multiple small brown asymptomatic skin papules. Histologic examination revealed a non-LC histiocytic proliferation in the dermis without epidermal invasion. She had infiltration of the pituitary stalk on brain imaging. diabetes insipidus has heretofore been associated with LC histiocytosis and xanthoma disseminatum but not benign cephalic histiocytosis.- - - - - - - - - - ranking = 0.04423868921284keywords = brain (Clic here for more details about this article) |
7/72. lymphomatoid granulomatosis in a 4-year-old boy.lymphomatoid granulomatosis is a necrotizing angiocentric and angiodestructive infiltrative process involving primarily the lung, skin, central nervous system, and kidney. The incidence is highest in middle-aged men and is rare in children. We report a case of lymphomatoid granulomatosis involving both skin and lung in a 4-year-old boy. The disease progressed to peripheral T-cell lymphoma, which was unusual in light of recent evidence suggesting a B-cell origin in the majority of cases.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
8/72. Type A Niemann-Pick disease.Niemann-Pick disease (NPD) represents a type of lysosomal storage diseases in which sphingomyelin accumulates in the histocytes and reticuloendothelial cells of the spleen, liver, lymph nodes, bone marrow and central nervous system. We report a child with massive hepatosplenomegaly, lymphadenopathy, mental retardation and widespread papulonodular lesions. His clinical features conform to the type A subgroup of NPD.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
9/72. Sneddon's syndrome: a cause of cognitive decline in young adults.OBJECTIVE: To review the clinical, psychometric, laboratory, and radiologic findings of 6 patients with Sneddon's syndrome (SS) who presented with cognitive dysfunction rather than stroke. DESIGN AND methods: Case series. All patients fulfilled were diagnosed as SS based on the co-occurrence of livedo racemosa and neurologic disease. patients presenting with clinical stroke were excluded. RESULTS: patients presented with cognitive complaints at an early age and all noted skin lesions from 6 months to 10 years before onset of cognitive symptoms. Associated systemic disorders included hypertension and seizures. Laboratory evidence of a hypercoagulable condition was identified in 4 of 6 cases. brain MRI scans demonstrated atrophy, especially in parieto-occipital regions and cerebral blood flow on brain SPECT scan was reduced in a similar distribution. CONCLUSION: patients with SS can develop dementia without antecedent clinical stroke. While the specific pathogenic mechanism of dementia in SS remains speculative, the disease predominantly injures brain tissue in vascular "watershed" territories.- - - - - - - - - - ranking = 0.088477378425679keywords = brain (Clic here for more details about this article) |
10/72. Visualization of nonvascular cranial tumor in cerebral flow study: case report.Unusual results were obtained from a cerebral blood flow study and a brain scan performed on a patient with an uncommon, nonvascular scalp tumor eventually identified as a proliferating trichilemmal cyst with acanthosis. The tumor accumulated the radionuclide during the early phase of the cerebral flow study, and the increased radioactivity was persistent, being prominently observable in a scan made 3 min and 2 hr after the radionuclide injection. This unusual, positive finding in a cerebral blood flow study of a nonvascular tumor was thought to be a consequence of the higher counting efficiency resulting from the lack of shielding by the skull and from the larger volume of the tumor tissue.- - - - - - - - - - ranking = 0.04423868921284keywords = brain (Clic here for more details about this article) |
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