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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Diploid/triploid mosaicism is an uncommon clinical syndrome with a subtle but distinctive phenotype. Characteristic features include prenatal and postnatal asymmetric growth deficiency, triangular and/or asymmetric facies, micrognathia, finger and/or toe syndactyly, clinodactyly, single transverse palmar creases, male genital anomalies, hypotonia and psychomotor retardation. This disorder is underdiagnosed because in 70% of cases the triploid cell line is only seen in fibroblasts. In cases in which a triploid cell line is found in lymphocytes, it usually occurs in less than 5% of cells. While some reports of diploid/triploid mosaicism have mentioned unusual skin pigmentary patterns, including hypomelanosis of Ito, it was only recently recognized that this is a helpful diagnostic clue in mosaic chromosome disorders. We report monozygotic twin girls with diploid/triploid mosaicism whose cutaneous pigmentary dysplasia led to their diagnosis.
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PMID:Monozygotic twin girls with diploid/triploid chromosome mosaicism and cutaneous pigmentary dysplasia. 186 Feb 53

We studied a boy with macrocephaly, hypotonia, pigmentary retinopathy, unilateral whorled hypopigmented skin lesions, and seizures. Skin biopsy confirmed the clinical diagnosis of hypomelanosis of Ito. Postmortem examination at age 22 months revealed a severe neuronal migrational defect that altered the cerebral cortex architecture of white matter. There were many gray matter heterotopias characterized by altered neurons and giant cells. Electronmicroscopy revealed the astrocytic nature of the giant cells. Embryologic migration of both melanoblasts from neural crest and cortical neurons occurs in the second trimester, suggesting a common mechanism for the developmental pathology of skin and brain.
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PMID:Hypomelanosis of Ito (incontinentia pigmenti achromians)--a clinicopathologic study: macrocephaly and gray matter heterotopias. 720 48

We report our clinical and neuroradiologic findings in 13 patients affected by hypomelanosis of Ito. Seven patients were boys and six were girls; their ages ranged from 11 months to 16 years. Neurologic signs were present in all but two cases, and they consisted of language disabilities, seizures, hypotonia, mental retardation, and autistic behavior. MRI was performed in all patients. We observed anomalies of the white matter in seven of the 13 patients; all but one of these seven had neurologic signs that included seizures, hypotonia, language disabilities, and mental retardation. The abnormal signals in the white matter were mostly located in the parietal periventricular and subcortical regions of both hemispheres. Moreover, we found asymmetry of the cerebral hemispheres in one of our 13 patients and atrophy of the cerebellar vermis in another patient, with no involvement of the white matter in either. In the remaining four of the 13 patients results of MRI appeared normal. There was a relationship between the anomalies in the central nervous system at MRI, as a whole, and the neurologic manifestations, even though two patients with apparently normal images on MRI had partial and generalized tonic clonic seizures, respectively. A correlation was also found between white matter anomalies and neurologic signs; extended and deep changes in white matter images were associated with more severe neurologic abnormalities and delayed language milestones appeared to be a constant finding in this group of patients. These anomalies of the white matter, which did not progress over time, resembled those seen in other neurocutaneous syndromes. The hypothesis is presented that underlying disarray of cortical lamination or neuronal loss with subsequent wallerian degeneration and altered or delayed myelination could be the cause of the abnormal findings on MRI.
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PMID:Involvement of the white matter in hypomelanosis of Ito (incontinentia pigmenti achromiens). 861 19

The main peculiarities of the hypomelanosis of Ito (HI) or incontinentia pigmenti achromians are shown. The most frequent and severe complications of this multisystemic neurocutaneous disease are reviewed. The most severe complications concern to the central nervous system (CNS), mental retardation and epilepsy--both present in more than 50% of cases--being the two most severe and frequent disorders. About 10% of patients with HI show infantile spasms during the first year of life and another 10% have autistic behavior. Moreover, other complications can be observed in some patients. These complications consist of ocular, musculoskeletal and oral alterations, hypotonia, macrocephalia, microcephalia, congenital cardiac malformations, urological and genital malformations and other rarer disorders. Chromosomal anomalies, especially translocations or mosaicisms type are found in about 50% of cases. The study, however, can show the chromosomal abnormalities in the karyotype performed in fibroblasts of the hypopigmented skin while it may be normal in the blood and in skin unaffected.
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PMID:[Hypomelanosis of Ito]. 943 99

We show the complications observed in a large series of children with hypomelanosis of Ito (HI) or incontinentia pigmenti achromians, studied in a neurology service over 30 years. Of the 76 patients, 35 were male (46%) and 41 female (54%) with ages ranging from newborn to 10 years at the time of the first visit. They were thoroughly studied from the clinical, genetic, psychological, neuroradiological, with computed tomography (CT) and/or magnetic resonance imaging (MRI), and electroencephalographic (EEG) points of view. Mental retardation was observed in 43 cases (57%) of whom eight (10%) showed autistic behavior; 16 (21%) were borderline and only 17 (22%) had a normal mental level (IQ > 85). Thirty-seven patients (49%) had seizures, consisting of infantile spasms in six cases (8%). Twelve cases showed macrocephaly and coarse facies, six had microcephaly, and 14 showed hypotonia with pes valgus and genu valgus. Three cases of cerebellar hypoplasia, another of intracranial arteriovenous malformation and another of distal spinal muscular atrophy were observed as well. Some other anomalies, such as syndactyly, clinodactyly, abnormalities of the skeleton, asymmetry of the facies, ears, body and/or extremities, gynecomastia and asymmetrical breasts, short stature, oral alterations, congenital cardiopathies and genital anomalies, were also occasionally found. Three children died, but necropsy was performed only in one. Anatomical and histological studies did not disclose specific findings.
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PMID:Hypomelanosis of ITO. A study of 76 infantile cases. 953 59

A 10-year-old boy presented with a severe and diffuse mosaic skin hypopigmentation running (in narrow bands) along the lines of Blaschko associated with mosaic areas of alopecia, facial dysmorphism with midface hypoplasia, bilateral punctate cataract, microretrognathia, short neck, pectus excavatum, joint hypermobility, mild muscular hypotonia, generalized seizures, and mild mental retardation. Cranial magnetic resonance imaging revealed hypoplastic corpus callosum (primarily posterior), subcortical band heterotopia, and diffuse subcortical, periventricular cystic-like lesions. Similar dysmorphic features were observed in the child's mother, but with no imaging abnormalities. The facial phenotype coupled with the cysts in the brain was strongly reminiscent of the oculocerebrorenal Lowe syndrome. Full chromosome studies in the parents and the proband and mutation analysis on peripheral blood lymphocytes (and on skin cultured fibroblasts from affected and unaffected skin areas in the child) in the genes for subcortical band heterotopia (DCX (Xq22.3-q23)], lissencephaly (PAFAH1B1, alias LIS1, at 17p13.3), and oculocerebrorenal syndrome of Lowe (OCRL at Xq23-q24)] were unrevealing. This constellation of multiple congenital anomalies including skin hypopigmentation and eye, musculoskeletal, and nervous system abnormalities was sufficiently characterized to be regarded as a novel example of pigmentary mosaicism of the Ito type (i.e., hypomelanosis of Ito).
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PMID:Pigmentary mosaicism, subcortical band heterotopia, and brain cystic lesions. 1938 77

The authors report a case of choroid plexus papilloma in a girl with hypomelanosis of Ito, and they review the literature in brief. Hypomelanosis of Ito is a rare neurocutaneous syndrome characterized by cutaneous hypopigmented whorls, streaks, and patches along lines of Blaschko. Most patients exhibit CNS manifestations, including psychomotor retardation, seizures, hypotonia, and ataxia. A 6-year-old girl with hypomelanosis of Ito was referred to the authors' hospital with bilateral tumors in the lateral ventricles. The right lateral ventricle tumor was surgically removed. Immunohistochemical investigations revealed the tumor to be a choroid plexus papilloma (WHO Grade I). A chromosomal investigation revealed that the tumor tissue demonstrated a large loss of heterozygosity at chromosome 10. The case reported here serves as a reminder that de novo brain tumors may arise in patients with chromosomal mosaicism.
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PMID:Choroid plexus papilloma in a girl with hypomelanosis of Ito. 2279 65

The term hypomelanosis of Ito (HI) is applied to individuals with skin hypopigmentation along the lines of Blaschko. Although it was originally described as a purely cutaneous disease, subsequent studies describing HI reported a 33% to 94% association with multiple extracutaneous manifestations, mostly of the central nervous and musculoskeletal systems. This leads to characterization of HI as a neurocutaneous disorder. We report a 10-year-old boy who presented with constellation of multiple congenital anomalies including facial dysmorphism, skin hypopigmentation, musculoskeletal, and nervous system abnormalities. The latter manifested as hypotonia, generalized seizures, and mild mental retardation. Cranial magnetic resonance imaging revealed normal finding initially, however; follow-up diffusion weighted images were suggestive of a possible iron accumulation. The facial phenotype coupled with the bilateral globus pallidi lesions were never been reported in association with HI. Thus, our patient represents a possible novel example of HI.
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PMID:The neurologic aspects of hypomelanosis of Ito: Case report and review of the literature. 2749 6