Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 2 1/2 year old mentally retarded Dutch boy, suffering from epilepsy, hydrocefalus, generalised hypotonia, degenerative signs of the eyes and teeth and characteristic pigment disturbances of the skin is described. The complete picture fits in the syndrome of Ito's hypomelanosis, also called incontinentia pigmenti achromians. This is a neurocutaneous syndrome or an ectodermal dysplasia.
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PMID:[A patient with Ito's hypomelanosis, also called incontinentia pigmenti achromians]. 668 62

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

Incontinentia pigmenti (IP) is a rare, X-linked dominant disorder that presents at or soon after birth with characteristic cutaneous signs. The eyes and central nervous system are the next most commonly affected systems. We aimed to describe the ophthalmological, neurological and radiodiagnostic findings of a patient with IP and bilateral retinal detachment. Clinical and laboratory findings of a four-month-old female baby who did not have light fixation and had neurological maturation retardation are presented. Characteristic skin lesions of IP were noted especially at the extremities, bilaterally. On neurological examination, motor and mental maturation were retarded and axial hypotonia was noted. Bilateral retinal detachment was the cause of absent eye fixation noted during ophthalmologic examination, and the detachments were also documented by ultrasonography and magnetic resonance imaging (MRI). Otologic examination was normal. Focal left frontal lobe atrophy, corpus callosum hypoplasia and prominence of right hemisphere were also noted on MRI. MR spectroscopy revealed negative lactate peak at the involved left frontal lobe. Bilateral retinal detachment is a probable finding in IP and patients with neurological symptoms should be investigated for associated sight-threatening ocular pathologies.
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PMID:Incontinentia pigmenti: a case report and literature review. 1948 Mar 36