Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two siblings with progressive intrahepatic cholestasis were reported. The brother died at 4 years of age because of hepatic failure followed by persistent obstructive jaundice starting at 4 months of age. The sister had unique clinical features, including recurrent obstructive jaundice since early infancy, radiopaque gallstone and neurological abnormalities which were cerebellar ataxia, bilateral ptosis, hyporeflexia and visual disturbance involving retinal degeneration and optic atrophy. She had a coarse facial appearance, camptodactyly and sclerotic skin with many scratch marks. Persistent high levels of serum bile acids were found while the patient was icteric and even anicteric, though serum cholesterol levels were approximately within normal limits. The serum lipoprotein-X was negative whenever examined. Cholestyramine treatment gave incomplete relief from pruritus but resulted in no improvement in her clinical course.
 ...
PMID:Familial cholestasis with gallstone, ataxia and visual disturbance. 711 42

A surgical case of monostotic fibrous dysplasia of the left frontal and sphenoidal bone in a 14-year-old girl is described. This girl was admitted to our hospital in March, 1992, with a chief complaint of facial deformity and asymmetry due to a painless and progressive bony bulging over the left fronto-orbital region. But she denied any symptoms such as proptosis, diplopia, optic atrophy and visual loss. Other data found on neurological examination and laboratory tests were normal. In addition, she had no history of skin lesions, precocious puberty or other endocrine abnormalities. Plain craniogram showed remarkable thickening of the left frontal bone and of the anterior cranial fossa of the sphenoidal bone with irregular stenosis of the left optic canal. CT scan showed the diffuse enlargement of the affected bone and involvement of the paranasal sinuses. Angiography revealed no positive findings. On December 10, 1992, orbito-cranial reconstruction and unilateral optic canal release were performed using an extradural approach through a left fronto-temporal craniectomy. Histological findings confirmed the lesion to be typical fibrous dysplasia. She recovered completely one month after the operation, but she suffered transient blurred vision, diplopia and left ptosis. Most of the decreased vision caused by fibrous dysplasia cannot be reversed after surgical treatment. So, if optic canal stenosis is evident, even when visual loss is not clear, release of the optic canal stenosis should be done as early as possible in association with experienced neurosurgeons and with meticulous dissection.
 ...
PMID:[Orbito-cranial reconstruction and unilateral optic canal release in a patient with left fronto-orbital fibrous dysplasia: a case report]. 796 64

A 12-year-old girl presents with optic atrophy, pale papilla, amblyopia and microcephaly (-3 s.d.) with mild mental retardation and facial dysmorphism. She had mitral insufficiency with mitral prolapse and moderate short stature (-2.5 d.s.). She had normal flash visual evoked potentials, normal electroretinograms and electrooculograms and normal cranial CT scan as well as other lab tests to rule out malformations, tumors or multiple sclerosis. Her lymphocyte karyotype showed a variegated mosaicism with: 2 cells with 49, XX, +mar,+mar,+mar; 21 cells with 48, XX, +mar,+mar; 57 cells, with 47, XX,+mar; 20 cells with 46,XX; while parental karyotypes were normal. This syndrome therefore associates optic atrophy, mental retardation and microcephaly and short stature with chromosomal instability in the form of variegated mosaicism.
 ...
PMID:Optic atrophy, microcephaly, mental retardation and mosaic variegated aneuploidy: a human mitotic mutation. 798 82

This is a report of a case of cardio-facio-cutaneous (CFC) syndrome in a three-year-old boy. Apart from obvious signs of retardation in his mental and motor development, the child was conspicuous through his short stature, relative macrocephaly, vitium cordis, pendular nystagmus and ptosis and optic atrophy on both sides. The typically dysmorphic facial features that characterize this syndrome such as high forehead, biparietal impression, downward slant of the palpebral fissures, hypoplastic supraorbital ridges, depressed nasal bridge, high palate, and dysplasia of the ears, were particularly marked in this case. The hands and feet were plump, the skin rather thick, and the hair sparse and very curly. A chromosome analysis as well as metabolism tests proved normal. Until now there have been 27 reports of such cases in medical literature.
 ...
PMID:[Cardio-facio-cutaneous syndrome--visual diagnosis of a rare syndrome]. 805 13

The frequency of genetic eye diseases in a genetic counseling center: In this study the incidence of eye diseases of genetic origin in patients attending our genetic counseling center for a period of almost six years is documented. The frequency of retinitis pigmentosa, congenital cataracts, lens dislocation, microphthalmos, retinoblastoma, congenital glaucoma, congenital ptosis, degenerative myopia, strabismus, optic atrophy, various genetic metabolic diseases have been investigated, and the results are presented. Preventive approaches and prenatal diagnostic possibilities are discussed and the importance of genetic counseling is emphasized.
 ...
PMID:The frequency of genetic eye diseases in a genetic counseling center. 877 20

Cytochrome c oxidase (CCO) deficiency is associated with various types of mitochondrial encephalomyopathy. The enzyme activities in different tissues and organs are varied. We report an 11-year-old girl with CCO deficiency, who presented with nystagmus, ptosis and optic atrophy. Her younger sister died of respiratory failure at 7 years of age and had the same initial clinical manifestations. Their parents were consanguineous. The girl had mild mental retardation and frequent premature ventricular contractions. Brain magnetic resonance imaging of the patient on admission revealed multiple lesions in both the gray and white matter. Except for arrhythmia and marked right axis deviation of the heart on electrocardiography, no other evidence of cardiac involvement was noted. Although a muscle biopsy was normal for both histochemical stains and electron microscopy, the enzyme assays in cultured skin fibroblasts revealed partial CCO deficiency, which may explain the clinical presentations.
 ...
PMID:Cytochrome c oxidase deficiency in fibroblasts of a patient with mitochondrial encephalomyopathy. 891 62

The authors present ocular symptoms in 116 drug abusers. They have observed optic atrophy and defects in visual field in 9 cases, reduced convergence in 8 cases, slow pupillary reaction in 9 cases, ptosis in 3 cases, nystagmus in 2 cases, retinal haemorrhages in the nerve fibre layer in 2 cases, myopia in 45 cases and blepharoconjunctivitis in most of cases. The authors want to indicate the principal ocular signs in drug abusers in our country.
 ...
PMID:[Examination of ocular lesions in drug abusers in Poland]. 964 21

We report on four children of both sexes from a highly inbred family with hypotonia, spastic diplegia, microcephaly, microphthalmia, congenital cataract, optic atrophy, ptosis, kyphoscoliosis, short stature, severe mental retardation, and cerebral malformations. Six other children may also have been affected. The differential diagnosis and the possibility of a second family with the micro syndrome are discussed.
 ...
PMID:Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome? 1046 17

We report a case of optic glioma with bilateral optic atrophy. A 3-year-old girl presented with vomiting and left hemiparesis. She had hypothalamic dysfunction, right ptosis, right monocular nystagmus, left facial palsy, left hemiparesis, and left pes adductus. Neuroimaging studies showed obstructive hydrocephalus with a large suprasellar calcified tumor with a ring-like enhancement mimicking craniopharyngioma. Visual-evoked potentials showed delayed latency of N75 in the right occipital lead. The tumor, a pilocytic astrocytoma in the right optic tract and chiasma, was partially removed via a right frontotemporal craniotomy. The right optic nerve had shrunk to half the normal diameter and became twisted downwardly. Intracranial pressure (ICP) increased to 40 cm H2O. The fundus had bilateral optic atrophy without disc swelling. To our knowledge, this is the first report of a lamina/dot sign of the optic disc in a small child with a brain tumor and a normal neuroretinal fiber layer. These ocular findings may result from possible interruption of the axonal flow caused by the tumor and not increased ICP.
 ...
PMID:Optic glioma with characteristic bilateral optic atrophy in a 3-year-old girl. 1070 32

We report two male cousins with short stature, microcephaly, hypertelorism, optic atrophy, ptosis, absent ear lobes, high-arched palates, abnormal EEG, and severe mental retardation. Both cousins have consanguineous parents. Differential diagnoses are discussed and the possibility that we might be reporting on a new syndrome is raised.
 ...
PMID:Unknown diagnosis in two male cousins with facial abnormalities, optic atrophy, abnormal EEG, and severe psychomotor retardation. 1252 96


<< Previous 1 2 3 Next >>