1/37. 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) |
2/37. Neurocutaneous melanosis with hydrocephalus, intraspinal arachnoid collections and syringomyelia: case report and literature review.Neurocutaneous melanosis (NCM) is a rare nonfamilial syndrome, characterised by large or numerous congenital pigmented nevi and excessive proliferation of melanin-containing cells in the leptomeninges. We report the MR findings in the brain and spine of a child with NCM who underwent neurosurgical treatment and was followed up for 8 years. The findings in this child (small hyperintense collections of melanocytes in both temporal lobes, mild meningeal enhancement along the spine and the development of an extensive subarachnoid CSF accumulation with cord compression and syringomyelia) are believed to be exceptionally rare.- - - - - - - - - - ranking = 0.1406823853381keywords = brain (Clic here for more details about this article) |
3/37. Neurocutaneous vascular hamartomas mimicking Cobb syndrome. Case report.The authors report the rare case of a patient with neurocutaneous vascular hamartomas mimicking Cobb syndrome. An 8-year-old boy was admitted to the authors' hospital with progressive urinary disturbance and upper back pain. Multiple skin nevi had been noted at the child's birth. Radiological examination revealed multiple cavernous angiomas in the spinal cord in the same metamere in which the skin nevi had been observed and also in the left cerebral hemisphere. His symptoms gradually improved without surgical intervention. Four years later he was readmitted because of a cerebral hemorrhage involving the left cerebral peduncle. Nonsurgical treatment was chosen because his symptoms promptly improved. To the best of the authors' knowledge, this is the first case of multiple cavernous angiomas in the brain and spinal cord associated with skin nevi. The authors discuss this clinical entity and the significance of the disease.- - - - - - - - - - ranking = 0.1406823853381keywords = brain (Clic here for more details about this article) |
4/37. 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) |
5/37. 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) |
6/37. Linear and whorled nevoid hypermelanosis.Linear and whorled nevoid hypermelanosis (LWNHM) is a reticulate pigmentary disorder with a sporadic occurrence, representing genetic mosaicism. It is characterised by hyperpigmented macules in a reticulate pattern along Blaschko's lines, sparing the mucous membranes and stabilising after one to two years. It may be associated with various neurological abnormalities. The disorder may resemble incontinentia pigmenti, epidermal nevus, or zebra-like hyperpigmentation clinically. We report LWMNHM in a 15-year-old girl with progressively increasing streaks of reticulate hyperpigmented macules arranged in a whorled pattern over the trunk and extremities, which appeared soon after birth. There was no history of any preceding eruption or any associated systemic abnormality. Histopathological examination revealed basal cell hyperpigmentation without any pigmentary incontinence. CT scan of the brain was normal.- - - - - - - - - - ranking = 0.1406823853381keywords = brain (Clic here for more details about this article) |
7/37. 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) |
8/37. 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 = 2.2813647706762keywords = central nervous system, nervous system, brain (Clic here for more details about this article) |
9/37. Neurologic variant of epidermal nevus syndrome with a facial lipoma.A 1-year-old girl presented for evaluation of a linear plaque on her forehead. She was born at 36 weeks' gestation following an uncomplicated pregnancy and delivery. At birth, she was noted to have an enlarged right cheek. She had no seizure history, but developed grand mal seizures 1 year later. On examination, she had a yellow plaque on her forehead which extended onto her nose. Under her right jaw, extending onto her anterior neck, there was a cafe-au-lait macule within which there was a yellow plaque which followed the lines of Blaschko. Her right cheek was enlarged and was erythematous (Fig. 1). magnetic resonance imaging (MRI) of her face showed a mass in the right cheek deep to the subcutaneous fat tissue layer. The signal from the mass was identical to that from the fat, indicating that the mass represented a lipoma. This was later excised surgically and was histologically a lipoma. MRI of the brain demonstrated enlargement of the right lateral ventricle in addition to enlargement of the right cerebral hemisphere. There was also evidence of abnormal gyral architecture. Computerized tomography (CT) three-dimensional reconstruction of the skull demonstrated overgrowth of the right maxilla, right mandible, and right orbit (Fig. 2).- - - - - - - - - - ranking = 0.1406823853381keywords = brain (Clic here for more details about this article) |
10/37. 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) |
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