1/12. Unusual gastrointestinal features in a child with pernicious anemia.Pernicious anemia in childhood is a rare disease. The radiologic demonstration of gastric mucosal atrophy led directly to this diagnosis in an 11-year-old girl. In addition, there was deformity of the pyloric antrum and superficial ulceration in the stomach and duodenum. endoscopy and biopsy confirmed these findings.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/12. malignant atrophic papulosis (Degos' disease): clinicopathological correlations.malignant atrophic papulosis (MAP) is a rare disease characterized by pathognomonic cutaneous lesions and frequently fatal systemic involvement. Dermatologists should have a high index of suspicion for systemic complications in a patient presenting with MAP. We report a case of malignant atrophic papulosis to highlight the clinicopathological features and review this important dermatological diagnosis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/12. Pontocerebellar hypoplasia type 1: new leads for an earlier diagnosis.Pontocerebellar hypoplasia type 1 is a rare disease characterized by pontocerebellar hypoplasia and anterior horn cell degeneration. The oldest reported child died at the age of 26 months. Two siblings were diagnosed with pontocerebellar hypoplasia type 1 after the death of the second sibling at 40 months of age from respiratory failure and the unexpected finding of anterior horn cell degeneration on her autopsy. The older sibling was a boy who was labeled as having cerebral palsy. He died at 14 months of age from pneumonia following a clinical course similar to his sister's, who was born 5 years after his death. Both siblings had significant global developmental delay with axial and peripheral hypotonia initially. Peripheral hypertonia with brisk reflexes developed later but were absent prior to death. Extensive investigations in the second sibling ruled out known metabolic (including congenital disorders of glycosylation) and mitochondrial diseases using skin fibroblast cultures and enzyme analysis. genetic testing for Friedreich's ataxia; neuropathy, ataxia, and retinitis pigmentosa (NARP); spinal muscular atrophy; and spinocerebellar ataxia type 1, 2, 3, 6, 7, and 8 gene abnormalities was negative. The elecroretinogram showed a previously unreported finding of abnormal and progressive rod/cone response. Our cases provide clinical and previously unreported electroretinographic evidence for neurodegeneration in pontocerebellar hypoplasia type 1 and call for the expansion of the disease phenotype.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/12. Biliary cystadenocarcinoma associated with atrophy of the left hepatic lobe and hepatolithiasis mimicking intrahepatic cholangiocarcinoma: a case report.Biliary cystadenocarcinoma and its benign counterpart, biliary cystadenoma, are rare hepatic cystic tumors arising from the hepatobiliary epithelium. We report the case of a 68-year-old Taiwanese woman who presented initially with acute cholangitis. A series of imaging studies including abdominal ultrasound, computerized tomography, endoscopic retrograde cholangiopancreatography, and percutaneous transhepatic cholangiography showed bilateral intrahepatic duct (IHD) and common bile duct (CBD) stones with IHD and CBD dilatation, and an ill-defined tumor within the atrophied left hepatic lobe. The patient underwent surgical resection of the tumor and choledocholithotomy. The pathologic diagnosis was biliary cystadenocarcinoma. We review this rare disease entity and discuss its unusual radiologic features mimicking intrahepatic cholangiocarcinoma.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/12. Atrophia maculosa varioliformis cutis.Atrophia maculosa varioliformis cutis is a rare disease characterized by spontaneously formed facial scars in young adults. Its etiology is unknown; there may be an underlying defect of dermal elastin. We discuss a patient with this unusual disorder and review its literature.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/12. Diffuse cerebral white matter T2-weighted hyperintensity: a new finding of general paresis.General paresis (parenchymatous neurosyphilis) is a rare disease, and in recent years the number of papers published on the magnetic resonance imaging findings has been limited. The findings are as follows: cerebral atrophy; mesiotemporal T2 hyperintensity; ventriculomegaly; pathological T2 hypointensity of the globus pallidus, putamen, the head of the caudate nucleus and thalamus. We present a new finding, diffuse cerebral white matter T2 hyperintensity, observed in a patient with general paresis with a 5-year history of progressive dementia.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/12. Neuro-otological findings in a case of Marinesco-Sjogren syndrome with nystagmus.Marinesco-Sjogren syndrome is a very rare disease that develops in childhood with main symptoms of cataract, ataxia, mental deficiency and microsomia, and is regarded as a type of spinocerebellar degeneration. The author performed the neuro-otological tests on a case of suspected Marinesco-Sjogren syndrome. The patient exhibited bilateral congenital cataract, mild cerebellar symptoms, bilateral gaze nystagmus with rebound nystagmus, mental retardation, deformity and muscular atrophy of the limbs. Though cerebellar symptoms of the limb were mild, the findings of bilateral gaze nystagmus that appeared most notably immediately after lateral gaze and diminished gradually thereafter with rebound nystagmus suggested cerebellar disturbances. Marked atrophy of the cerebellar hemisphere in CT scans supported the neurootological findings. The author agrees to the opinion of Skre and Locken who included Marinesco-Sjogren syndrome in the cerebellar form of spinocerebellar degeneration.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/12. malignant atrophic papulosis: absence of circulating immune complexes or vasculitis.A 26-year-old woman presented with the classic manifestations of malignant atrophic papulosis, a rare disease of unknown cause. We report the results of our immunologic studies, which may help to explain why treatment with systemic immunosuppressant therapy has not been effective.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
9/12. Gowers local panatrophy.Gowers local panatrophy is a rare disease of skin, subcutaneous and muscular tissues, occurring multifocally and related to the syndromes of congenital or acquired lipodystrophy, although it presents similarities with other connective tissue disorders such as scleroderma. We report here the clinical and electromyographic findings in two patients with local panatrophy and emphasize its benign course and its similarity to scleroderma circumscripta.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
10/12. moyamoya disease in childhood: a familial case report.Moyamoya is an obstructive cerebrovascular disease characterized by a cerebral angiographic picture of stenosis or occlusion of main cerebral arteries with an abnormal vascular network at the base of the brain. No definitive cause has been found for this disease and opinion is still divided between a congenital and an acquired etiology. hemiplegia of sudden onset and epileptic seizures are the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. We report a new case of childhood moyamoya with clinical onset of the neurological symptoms within the 3rd year of life; during the child's illness the maternal grandmother presented with moyamoya disease too. Antiaggregating and calcium-antagonist drugs seem effective in preventing further vascular accidents, while a surgical approach is not possible. Computed tomography, single positron emission computed tomography, and magnetic resonance imaging are very useful in the diagnosis of this rare disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
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