1/22. Phakomatosis pigmentovascularis: A new case with renal angiomas and some considerations about the classification.We report phakomatosis pigmentovascularis detected in a Caucasian child characterized by the presence of a nevus flammeus and nevus anemicus on the face, a telangiectatic linear nevus of the right leg, and a very extensive blue spot covering 60% of the body surface, with ocular melanosis. Multiple angiomatous lesions of the kidney are associated without alterations of the central nervous system (CNS). This association has not been reported before; it could be a further expression of the complex of developmental defects. Our case corresponds exactly to type IIb in the classification of phakomatosis pigmentovascularis proposed by Hasegawa. As this classification seems very extensive, the higher incidence of cases corresponding to the second subtype suggests that we should identify it by the term phakomatosis pigmentovascularis, while the others could be considered as only very uncommon variants.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
2/22. 12-year-old male with Elejalde syndrome (neuroectodermal melanolysosomal disease).Neuroectodermal melanolysosomal disease, also known as Elejalde syndrome, is a rare syndrome characterized by silvery hair, pigment abnormalities, and profound central nervous system dysfunction. It is similar to the Chediak-Higashi and Griscelli syndromes, although these syndromes are associated with severe immunologic dysfunction. We report on a 12-year-old male with Elejalde syndrome and compare the Elejalde, Chediak-Higashi, and Griscelli syndromes.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
3/22. lissencephaly and mongolian spots in Hurler syndrome.Hurler disease or syndrome is a disorder of mucopolysaccharide metabolism, inherited as an autosomal recessive trait. We describe a case of a 15-month-old female exhibiting with clinical and laboratory characteristics of the syndrome, central nervous system lesions (lissencephaly, excessive ventricular enlargement and Dandy Walker malformation with vermis atrophy, cerebellar cyst) and mongolian spots in the trunk and extremities. The combination of mongolian spots and severe central nervous system lesions in Hurler syndrome is considered a rare clinical occurrence, while the association with lissencephaly has never been reported.- - - - - - - - - - ranking = 2keywords = central nervous system, nervous system (Clic here for more details about this article) |
4/22. Elejalde syndrome: report of a case and review of the literature.Elejalde syndrome is a rare autosomal recessive condition, with only 10 reported cases through 2001. It is characterized by silvery hair, pigment abnormalities, and profound central nervous system dysfunction. The differential diagnosis includes Griscelli and Chediak-Higashi syndromes, which present with silvery hair, pigment abnormalities, central nervous system alterations, and severe immunologic dysfunction. We report a 6-year-old girl with Elejalde syndrome and review Elejalde, Griscelli, and Chediak-Higashi syndromes.- - - - - - - - - - ranking = 2keywords = central nervous system, nervous system (Clic here for more details about this article) |
5/22. Hypomelanosis of Ito and hemimegalencephaly.Hypomelanosis of Ito is a congenital neurocutaneous syndrome with a particular pattern of swirling hypopigmentation. Multiple extracutaneous abnormalities involving the central nervous system, the eyes, and musculoskeletal structures occur in over two-thirds of the cases. This report describes two patients with typical unilateral cutaneous lesions associated with extracutaneous features, including hypertrophy of the cerebral hemisphere contralateral to the cutaneous hypopigmentation. magnetic resonance imaging and EEG findings support the diagnosis of hemimegalencephaly, as has recently been reported in other isolated cases of this rare phakomatosis.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
6/22. tuberous sclerosis complex associated with dyschromatosis universalis hereditaria.tuberous sclerosis is an autosomal dominant disease due to mutations in two genetic loci, characterized by hamartoma formation in the skin, nervous system, heart, kidney and other organs. Dyschromatosis universalis hereditaria is an autosomal dominant genodermatosis, characterized by small hyperpigmented and hypopigmented macules, uniformly distributed over the entire body. The face is rarely involved and the palms, soles and mucous membranes are usually spared. We report a case of tuberous sclerosis with dyschromatosis universalis hereditaria, with hyperpigmented and hypopigmented macules affecting the palms, soles and oral mucosa. To our knowledge, this is the first reported case of such an association.- - - - - - - - - - ranking = 0.27904955572865keywords = nervous system (Clic here for more details about this article) |
7/22. incontinentia pigmenti in identical twins with separate skin and neurological disorders.incontinentia pigmenti in female identical twins is reported. The first baby showed the typical pigmentation of incontinentia pigmenti, while the second baby had hydrocephalus (colpocephaly) without pigmentation. They were identical, with a rate of 99.9% in 18 blood-type studies. Virus was not detected and cytogenetic studies proved normal. Both showed peripheral eosinophilia. The individual expressions of incontinentia pigmenti in these identical twins were separated into cutaneous lesions and lesion of the central nervous system (intra-uterine hydrocephalus). Cutaneous lesions developed after birth. twins with incontinentia pigmenti are extremely rare and in this family showed different expressions of this disease in space and time.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
8/22. Ocular findings in incontinentia pigmenti.incontinentia pigmenti is an uncommon disorder affecting females, and is associated with ocular, dental, skeletal, and central nervous system abnormalities. Ocular abnormalities are found in 35% of cases. The authors present an eight-month-old girl with neonatal history of skin bullae, who was noted to have esotropia, leukocoria, and a fixed pupil. Histologic examination of the enucleated globe reveals total retinal detachment with retinal neovascularization into the collapsed vitreous, reactive retinal gliosis, and scattered giant nodular proliferations of retinal pigment epithelium. It is suggested that the underlying defect is at the level of the retinal pigment epithelium and that the neurosensory retinal changes are secondary.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
9/22. Recurrent encephalomyelitis associated with incontinentia pigmenti.A 4-year-old girl developed progressive obtundation following an upper respiratory tract illness. Physical, cerebrospinal fluid, computed tomographic, electroencephalographic, and evoked response findings were compatible with disseminated encephalomyelitis. skin lesions indicative of incontinentia pigmenti were confirmed by biopsy. Transient loss of suppressor T cells was observed. Prior history revealed that at 6 months of age a similar episode of acute central nervous system deterioration had occurred. Recurrent encephalomyelitis does occur with incontinentia pigmenti. Transient loss of suppressor T cells suggests that this is an immune-mediated process.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
10/22. Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers.We describe 2 brothers with a malformation syndrome consisting of agenesis of the corpus callosum, cutaneous hypopigmentation, bilateral cataract, cleft lip and palate, and combined immunodeficiency. The clinical history of both patients was characterized by severe psychomotor retardation, seizures, recurrent severe respiratory infections, and chronic mucocutaneous candidiasis. The children died of bronchopneumonia at age 2 and 3 years, respectively. Immunological investigations showed, in one sib studied, skin anergy to recall antigens, profound depletion of T4 lymphocytes, and serum IgG2 deficiency. Necropsy showed agenesis of the corpus callosum, hypoplasia of the cerebellar vermis, and profound hypoplasia of the thymus and of the peripheral lymphoid tissue. The distinctive features of these sibs appear to define a previously undescribed hereditary MCA/MR syndrome. The clinical and pathological findings seem to indicate, as a pathogenetic mechanism, a defect involving the embryonic organization of the central nervous system and of the immune system.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
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