1/6. Oculocerebral hypopigmentation syndrome (Cross syndrome) in a Gipsy child.A boy aged 2 years, born prematurely to Gipsy parents, presented with hypopigmentation severe encephalopathy with athetoid movements, bilateral ocular anomalies including cloudy corneas, iris atrophy and cataracts, as well as dental defects. Ultrastructural examination of the skin disclosed scare melanosomes. Although the neurologic and ocular anomalies might have been accounted for by his extreme prematurity, their association with hypomelanogenesis and dental defects support, in this patient the diagnosis of the oculocerebral hypopigmentation syndrome (Cross syndrome).- - - - - - - - - - ranking = 1keywords = hypopigmentation (Clic here for more details about this article) |
2/6. 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 = 0.83333333333333keywords = hypopigmentation (Clic here for more details about this article) |
3/6. Eye findings in patients with phenylketonuria.Untreated phenylketonuria (PKU) is characterized by excretion of phenylpyruvic acid in the urine and mental retardation. Reported eye abnormalities include photophobia (probably due to the albinoid iris), cataracts, and corneal opacities. Eleven patients in an institutionalized population of approximately 1,000 mentally retarded patients had PKU. Cataracts were found in six patients. One patient had bilateral phthisis bulbi and one patient had monocular phthisis. No corneal opacities were found otherwise. All patients with cataracts were middle-aged or had a history of severe self-induced trauma or treatment with high dosages of thioridazine hydrochloride. albinism is associated with anomalous chiasmal routing of optic fibers and abnormal, extraocular motility. The ocular hypopigmentation of patients with PKU did not have the same results; all seeing patients were orthophoric. Although eye abnormalities are common in PKU except for hypopigmentation, none can be considered a direct effect of the inborn error of metabolism.- - - - - - - - - - ranking = 0.33333333333333keywords = hypopigmentation (Clic here for more details about this article) |
4/6. Ocular findings in a patient with prader-willi syndrome.A 25-year-old woman is described whose clinical features included infantile hypotonia, obesity after infancy, intellectual impairment, dysmorphic facial features, short stature, small hands and feet, and abnormal dentition, which are typical of the prader-willi syndrome. The patient had almond-shaped eyes, spot-like hypopigmentation under the retina, and a polychromatic luster in the anterior and posterior subcapsular regions of both lenses. Using fluorescence fundus angiography, we identified choroid-transmitted fluorescence in the areas of spot-like hypopigmentation. Recordings of both electroretinogram and visual evoked potential were normal. Ophthalmologists should be aware of the characteristic features of prader-willi syndrome because some of the ocular disorders associated with this syndrome can be treated.- - - - - - - - - - ranking = 0.33333333333333keywords = hypopigmentation (Clic here for more details about this article) |
5/6. A new form of complicated hereditary spastic paraplegia with cataracts, atretic ear canals and hypopigmentation.A 16-year-old Hispanic boy born of consanguineous parents is described as having a history of cataracts, progressive lower-extremity spasticity and atrophy starting at 4 years of age, atretic ear canals with hearing dysfunction and diffuse patchy cutaneous hypopigmented areas. Clinical examination showed the typical signs of spastic paraplegia with increased tone, hyperreflexia, muscle atrophy and contractures. sensation, autonomic and cerebellar functions were not disturbed. neuroimaging studies were normal. Laboratory findings did not support a diagnosis of metabolic disturbance or infectious disease. This is considered a new form of complicated hereditary spastic paraplegia (HSP), transmitted presumably in an autosomal recessive pattern.- - - - - - - - - - ranking = 0.66666666666667keywords = hypopigmentation (Clic here for more details about this article) |
6/6. Clinical and morphological features of waardenburg syndrome type II.Evaluation of 4-month-old girl who presented with congenital cataracts revealed heterochromia iridis, fundus hypopigmentation, residual white forelock and sensory neural hearing loss--findings consistent with waardenburg syndrome type II. Bilateral peripheral iridectomies performed at lensectomy provided tissue for evaluation. light microscopy revealed fewer melanocytes in the blue iris than in the brown. Electron microscopic examination showed a significant (p = 0.0001) reduction in melanosome size in the blue iris, and the nerve endings contained fewer vesicles. A defect in neural crest cell migration and melanin synthesis may be responsible for the heterochromia iridis seen in waardenburg syndrome type II.- - - - - - - - - - ranking = 0.16666666666667keywords = hypopigmentation (Clic here for more details about this article) |