1/20. Antenatal and postnatal findings in encephalocraniocutaneous lipomatosis.Encephalocraniocutaneous lipomatosis (ECCL) is a congenital neurocutaneous syndrome that comprises unilateral porencephalic cysts with cortical atrophy; ipsilateral hamartomas of scalp, eyelid, and outer part of the eye; lipomas of the central nervous system (CNS); cranial asymmetry; and characteristic cutaneous lesions. We report on the antenatal and postnatal sonographic and radiologic, and on the postnatal pathologic findings of an infant diagnosed with ECCL at birth. The antenatal sonogram at 28 weeks of gestation showed normal intracranial structures; the sonogram at 38 weeks of gestation showed asymmetry of the cerebral hemispheres and ventriculomegaly. magnetic resonance imaging at age 6 weeks demonstrated a porencephalic cyst on the left, hemiatrophy of the left cerebrum with cortical dystrophy, and a lipoma in the middle cranial fossa. Histologic findings of the resected cutaneous lesion confirmed the presence of fibrolipoma hamartoma. This case offers a unique insight into the antenatal and postnatal development of the hamartoneoplastic lesions of ECCL, and it highlights the difficulties inherent in the antenatal sonographic diagnosis of hamartoneoplastic syndromes.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
2/20. Neurocutaneous melanosis associated with Dandy-Walker malformation. case report and review of the literature.Neurocutaneous melanosis is a rare dysmorphogenesis associated with single or multiple giant pigmented cutaneous nevi and diffuse involvement of the leptomeninges anywhere in the central nervous system (CNS). It is interesting that almost 8-10% of patients had associated Dandy-Walker malformation in the literature, suggesting a common origin of the developmental abnormalities. In this article, we present a 2-year-old patient with neurocutaneous melanosis associated with Dandy-Walker malformation. We reviewed the literature and discuss the pathogenesis based on the preferred hypotheses so far.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
3/20. Immunohistochemical detection of the c-met proto-oncogene product in the congenital melanocytic nevus of an infant with neurocutaneous melanosis.Transgenic mice overexpressing hepatocyte growth factor/scatter factor (HGF/SF) demonstrate extensive pigmented nevi in both skin and leptomeninges of the central nervous system resembling human neurocutaneous melanosis. We immunohistochemically detected HGF/SF receptor, Met, in a congenital nevus of an infant with neurocutaneous melanosis, indicating that deregulation of HGF/SF-Met signaling in the critical period of development may lead to this fatal syndrome.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
4/20. Neurocutaneous melanosis and psychosis: a case report.The paper describes a case of neurocutaneous melanosis (NM), with mental retardation, chronic psychosis, and epilepsy possibly due to a temporal focus. This is the first report of NM associated with a severe and chronic psychosis. It is likely that such an association has not previously been described because of the ominous prognosis of most cases of NM with early involvement of the central nervous system.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
5/20. Neurocutaneous melanosis with epilepsy: report of one case.Neurocutaneous melanosis is a rare congenital syndrome characterized by the association of large or multiple congenital melanocytic nevi and benign or malignant melanotic tumors in the central nervous system. patients with neurocutaneous melanosis usually have neurological symptoms early in life that progress rapidly due to the development of increased intracranial pressure or malignant melanoma. We report a 2-month-old female infant with multiple congenital melanocytic nevi and frequent seizure attacks. magnetic resonance imaging of the brain demonstrated several regions compatible with melanotic deposits. During follow-up for one year, she had normal development and was seizure-free under the treatment of phenobarbital and valproic acid. We suggest that infants with large or multiple congenital melanocytic nevi should receive regular clinical check-up and brain imaging to exclude the possibility of central nervous system lesions.- - - - - - - - - - ranking = 2keywords = central nervous system, nervous system (Clic here for more details about this article) |
6/20. Cerebral mass due to neurocutaneous melanosis: eight years later.Neurocutaneous melanosis (NCM) is associated most commonly with giant congenital melanocytic nevi (CMN), in particular those on the scalp or in a posterior axial location that are accompanied by satellite congenital nevi. It also can occur in patients with multiple medium-sized CMN. In general, the prognosis of those with symptomatic NCM is poor, even in the absence of malignancy, while the prognosis of those with asymptomatic NCM detected via screening varies and is more difficult to predict. Herein we report an asymptomatic patient with a giant CMN and multiple satellite nevi who had a screening magnetic resonance imaging (MRI) study at age 5 months that showed a rounded area of increased signal in the right temporal lobe on T1-weighted images, suggestive of parenchymal melanosis. This melanotic mass was resected at age 10 months, and histologic examination of the surgical specimen showed prominent perivascular collections of benign, pigment-containing melanocytes within cerebral tissue. The patient remains healthy 8 years later. His excellent long-term outcome and other reports of NCM with localized central nervous system (CNS) involvement apparent on MRI may have implications for management, including early imaging of patients with high-risk CMN and potential surgical intervention for NCM.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
7/20. Trichothiodystrophy with severe cardiac and neurological involvement in two sisters.Trichothiodystrophy or sulphur-deficient brittle hair is a clinical marker for several autosomal recessive neurocutaneous syndromes. The typical hair abnormality is frequently associated with many alterations affecting the skin, nervous system, eyes and bones as well as the immune, gonadal and endocrine systems. We report the first cases of dilated cardiomyopathy in two sisters with trichothiodystrophy, leading to cerebral infarction in the younger one. In addition, both suffer from severe hearing impairment, osteosclerosis, and psychomotor retardation with central hypomyelination. CONCLUSION: Severe cardiac involvement and stroke may be associated features of trichothiodystrophy.- - - - - - - - - - ranking = 0.25873044063382keywords = nervous system (Clic here for more details about this article) |
8/20. Dural melanoma associated with ocular melanosis and multiple blue nevi.BACKGROUND: Primary meningeal melanomas of the central nervous system (CNS) are a rare malignant process with the majority originating from the leptomeninges. Primary dural melanomas have been reported to occur in isolation or in conjunction with nevus of ota. The association of primary dural melanoma with multiple cutaneous blue nevi has not been reported previously. OBJECTIVE: To describe a case of a 41-year-old Asian woman patient with a primary dural melanoma that arose in association with ocular melanosis and multiple cutaneous blue nevi. The patient is alive almost more than 8 years after subtotal and subsequent total resection of her primary tumor. Primary dural melanomas, nevus of ota, and blue nevi are discussed in relation to their coexistence and potential for intracranial melanoma. CONCLUSION: CNS melanoma is regarded as an extremely aggressive disease with poor prognosis. This case and previous reports of dural melanomas occurring in isolation or with nevus of ota have demonstrated relatively prolonged survival after surgical intervention. We conclude that dural melanomas are less aggressive tumors requiring surgical extirpation only.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
9/20. Encephalocraniocutaneous lipomatosis: a neurocutaneous syndrome.The neurocutaneous pattern syndromes are a group of disorders characterized by congenital abnormalities involving both the skin and the nervous system for which no identifiable cause has been isolated.(1) Ophthalmologic manifestations of these syndromes are common. These rare syndromes often have overlapping ophthalmic and systemic findings. Examples include encephalocraniocutaneous lipomatosis (ECCL), oculocerebrocutaneous syndrome (OCC), and linear nevus sebaceous syndrome (LNS). Clarifying the diagnostic criteria for these syndromes is a worthy goal because it will help elucidate the phenotypic spectrum of these poorly understood diseases as well as possibly facilitate genetic counseling. In this short report, a case of ECCL is used to illustrate the clinical manifestations of neurocutaneous syndromes.- - - - - - - - - - ranking = 0.25873044063382keywords = nervous system (Clic here for more details about this article) |
10/20. Neurocutaneous melanosis with transposition of the great arteries and renal agenesis.Neurocutaneous melanosis (NCM) is rare and is characterized by the proliferation of melanocytes in the central nervous system. A 6-day-old infant boy was referred to our department with giant congenital melanocytic nevi and convulsions. On physical examination the patient had a giant black-brown pigmented nevus covering his face, neck, scalp, shoulders, back, chest, and abdomen. Numerous satellite lesions were noted on the face, neck, and upper extremities. In the right bulbar conjunctiva, a brown plaque was present. magnetic resonance imaging (MRI) showed hyperintense areas in the brain on short repetition time/short echo time sequences, compatible with intraparenchymal melanin deposits. No leptomeningeal abnormality was seen. Further investigation also revealed agenesis of the right kidney and transposition of the great arteries. Transposition of the great arteries, which has never been reported in NCM, may be an incidental finding. We present a case of NCM associated with agenesis of the right kidney and transposition of the great arteries.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
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