1/38. Phakomatosis pigmentovascularis type IIIb associated with moyamoya disease.We diagnosed phakomatosis pigmentovascularis type IIIb in an 11-month-old baby who had a giant nevus spilus, a nevus flammeus, and moyamoya disease. Development of the patient was normal until 6 months of age when he developed a sudden onset of focal seizures and left hemiparesis. This patient represents the sixth case of phakomatosis pigmentovascularis type IIIb, including three cases in the Japanese literature, reported thus far. However, to our knowledge, this is the first case with an association to moyamoya disease.- - - - - - - - - - ranking = 1keywords = seizure (Clic here for more details about this article) |
2/38. Hypomelanosis of Ito.A two-year-old male child presented with bizarre hypopigmented skin lesions, severe mental retardation and generalized tonic-clonic seizures. Examination showed hypopigmented patterned whorls and irregular patches over the trunk and linear streaks over the flexor aspects of upper and lower limbs. He also had generalized hypertonia and brisk tendon reflexes. Other systems were normal.- - - - - - - - - - ranking = 1keywords = seizure (Clic here for more details about this article) |
3/38. Analphoid 3qter markers.Two cases of marker chromosomes derived from a non-centromeric location were studied to determine the characteristics of these markers with respect to the presence of functional centromeres and whether an associated phenotype could be described. The markers were characterized by fluorescence in situ hybridization and centromeric protein studies. Assessments were done to identify clinical features. Case 1 is a girl referred at age 1.5 years with swirly areas of hyperpigmentation, bilateral preauricular pits, hypotonia, developmental delay, and seizures. Case 2 is a male first evaluated as a newborn and then later during the first year of life. He had streaky hypopigmentation, right preauricular pit, accessory nipples, postaxial polydactyly, asymmetric cerebral ventricles, duplicated right kidney, a right pulmonary artery stenosis, and seizures. mosaicism for an extra marker from the 3qter region was present in both cases. Both markers had a constriction near one end and were C-band negative. Centromeric protein studies indicated absence of CENP-B, presence of CENP-C (data for case 1 only), and presence of CENP-E. Marker chromosomes were thus identified with a chromosomal origin far from their usual centromeric region and yet appeared to have functional centromeres. These two cases did not permit a specific clinical phenotype to be ascribed to the presence of tetrasomy for 3q26.2 approximately 3q27.2-->3qter.- - - - - - - - - - ranking = 2keywords = seizure (Clic here for more details about this article) |
4/38. 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 = 1keywords = seizure (Clic here for more details about this article) |
5/38. Linear and whorled naevoid hypermelanosis: a case with systemic involvement and trisomy 18 mosaicism.We describe a 20-year-old woman with trisomy 18 mosaicism, who presented with skeletal anomalies, epilepsy, mental retardation, and linear and whorled naevoid hypermelanosis.- - - - - - - - - - ranking = 0.96283029162978keywords = epilepsy (Clic here for more details about this article) |
6/38. incontinentia pigmenti et achromians.A case is reported, apparently the first of its kind in the literature, of a female child in which there were not only pigmented lesions of incontinentia pigmenti but also hypopigmented lesions of incontinentia pigmenti achromians. The title incontinentia pigmenti et achromians is suggested for this combined disorder. The child also had associated lesions in the form of nail dystrophy, delayed dentition and epilepsy.- - - - - - - - - - ranking = 0.96283029162978keywords = epilepsy (Clic here for more details about this article) |
7/38. Ring chromosome 17 in a mentally retarded boy.A six-year-old boy was found to have a ring chromosome 17. In addition to psychomotor retardation, speech delay and seizure disorders, his abnormal phenotypic features included epicanthal folds, broad depressed nasal bridge, protruding thick upper and lower lips, micrognathia, narrow high arched palate, short fifth fingers with a mild degree of clinicodactyly, multiple cafe-aui-lait spots, and abnormal dermatoglyphics.- - - - - - - - - - ranking = 62.24795891618keywords = seizure disorder, seizure (Clic here for more details about this article) |
8/38. Incontinentia pigmentii acromians with seizure disorder: a case report.Incontinentia pigmentii acromians (IPA) is a bizarre, irregularly shaped leukoderma of the trunk and extremities, characterized by marble cake-like whorls or streaks of hypopigmentation whose distribution can be unilateral or bilateral. Mode of inheritance is most consistent with an autosomal dominant type and in majority of the cases, one or more anomalies are present involving dermatological, dental and ocular disorders. A case of a female child, aged 2 1/2 yrs, referred from Pediatric neurology department, Medical College, Trivandrum with Incontinentia pigmentii acromians and seizure disorder is reported. Hamartomatous dental cusps and single maxillary central incisors have been associated with Incontinentia pigmentii acromians. A case of Incontinentia pigmentii acromians with hypoplastic teeth and tongue abnormalities is presented.- - - - - - - - - - ranking = 311.2397945809keywords = seizure disorder, seizure (Clic here for more details about this article) |
9/38. Mild phenotype in a 15-year-old boy with Pallister-Killian syndrome.Pallister-Killian syndrome is a rare disorder characterized by multiple congenital anomalies, coarse face, pigmentary skin changes, seizures, severe mental retardation, and the presence of an extra metacentric chromosome i(12p) confined to skin fibroblasts only. Here, we report on an unusual case of i(12p) in a 15-year-old boy presenting with mild mental retardation, minor facial features (long face, prognathism, short neck), normal weight, length, and OFC parameters as well as hyperpigmented streaks. The boy attended normal school until the age of 14 years. Because of hyperpigmented stripes, chromosome analysis was performed on skin fibroblasts. This study showed that 37% of the cells had an additional isochromosome for the short arm of chromosome 12. This observation illustrates the phenotypic variability of i(12p) and emphasizes the importance of skin fibroblasts chromosome analysis in patients with pigmentary skin changes.- - - - - - - - - - ranking = 1keywords = seizure (Clic here for more details about this article) |
10/38. Delineation of a newly recognized neurocutaneous malformation syndrome with "cutis tricolor".The term "cutis tricolor" describes the combination of congenital hyper- and hypo-pigmented lesions, in close proximity to each other with a background of normal skin. Cutis tricolor represents twin spotting and has been reported as an isolated skin disorder or as part of a neurocutaneous malformation syndrome. We report on an 11-year-old girl with diffuse pigmentary changes of the cutis tricolor type, facial anomalies, mental retardation, epileptic seizures, EEG anomalies, small skull, progressive double-curved thoracolumbar/lumbar scoliosis with vertebral scalloping and dysplastic vertebral pedicles and ribs, and tibial bowing. These abnormalities are similar to those observed in cases reported by Happle et al. [1997: J Med Genet 34:676-678] and Ruggieri [2000: Eur J Pediatr 159:745-749]. Additionally, our patient had altered behavior and hypoplasia of the corpus callosum. This constellation of abnormalities represents a newly recognized neurocutaneous malformation syndrome. The phenotype could be explained by somatic mutation. loss of heterozygosity at an early developmental stage would give rise to one single mosaic skin disorder (e.g., generalized skin manifestations of the cutis tricolor type in association to extracutaneous anomalies). Postzygotic recombination occurring later during embryogenesis would give rise to solitary lesions confined to the skin.- - - - - - - - - - ranking = 1keywords = seizure (Clic here for more details about this article) |
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