1/18. Ophthalmic findings in GAPO syndrome.BACKGROUND: The main manifestations of GAPO syndrome are growth retardation (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O). CASES: This syndrome has been described in 21 patients from 16 different families. Four cases are from turkey and have been presented by Sayli and Gul. The purpose of our study is to document the cases from turkey and discuss the ophthalmological and neuro-ophthalmolgical findings of these and other reported GAPO cases. OBSERVATIONS: All patients in the literature and our 4 cases have severe growth retardation with delayed bone age in infancy, characteristic facial appearance (high and bossed forehead, midface hypoplasia), alopecia or severe hypotrichosis, and pseudoanodontia. optic atrophy was present in 1 of our cases and in 5 previous cases. glaucoma was present in 5 cases, including 2 of ours. Buphthalmia and keratopathy secondary to glaucoma were also observed. White eyelashes, seen only in our cases, may be a sign of "early senility." CONCLUSIONS: optic atrophy is not a constant finding in GAPO syndrome. glaucoma may accompany the ocular findings. This syndrome has been attributed to either ectodermal dysplasia or the accumulation of extracellular connective tissue matrix, due to an enzyme deficiency involved in its metabolism. Current studies show that an elastin defect and secondary changes in collagen may be important in the pathogenesis of the disease.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
2/18. Menkes' kinky hair disease: a light and electron microscopic study of the eye.light and electron microscopic studies of the ocular tissue of a case of Menkes' kinky hair disease are described. The copper deficiency responsible for this systemic and neurologic disease appears to cause a progressive degeneration of retinal ganglion cells, loss of nerve fibers, and optic atrophy. The pigment epithelium is also abnormal with only small and irregular melanin granules present among electron-dense inclusion bodies. Abnormal elastica is present in Bruch's membrane.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
3/18. Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene.The authors describe a patient who presented with headache, seizures, and severe cerebral edema in whom they identified a novel mutation in the mitochondrial (mt-) tRNA(His) gene. This G12147A transition is heteroplasmic, predicted to disrupt a highly conserved base pair, and segregates with the cytochrome c oxidase deficiency in single muscle fibers.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
4/18. Congenital disorder of glycosylation (CDG) type Ie. A new patient.CDG Ie is caused by a deficiency of dolichol-phosphate-mannose synthase 1 (DPM1), an enzyme involved in N-glycan assembly in the endoplasmic reticulum. Three proteins are known to be part of the synthase complex: DPM 1, DPM2 and DPM3. Only mutations in DPM1, the catalytic subunit, have been described in three families. One was homozygous for the c274C>G (R92G) mutation in DPM1 and two others were compound heterozygous for R92G and a c628delC deletion or a c331-343del13, respectively. Clinical features were a severe infantile encephalopathy, early intractable seizures, acquired microcephaly, and some dysmorphic features. We report a patient with milder symptoms: microcephaly, dysmorphic features, developmental delay, optic atrophy, and cerebellar dysfunction without cerebellar atrophy. The patient is homozygous for a new mutation in exon 9 of the DPM1 gene (c742T>C (S248P)). Our findings extend the spectrum of CDG Ie.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
5/18. GAPO syndrome (McKusick 23074)--a connective tissue disorder: report on two affected sibs and on the pathologic findings in the older.GAPO syndrome was described in 12 patients from 7 families. Constant manifestations include dwarfism, alopecia, pseudoanodontia, and a peculiar, "geriatric" facial appearance. We describe the autopsy findings and all available clinical data on one deceased patient and his living affected sister, previously reported as short abstracts (Epps et al.: Cienc Cult 29(Suppl):740, 1977; Wajntal et al.: Cienc Cult 34(Suppl):705, 1982). Both had the characteristic anomalies of this syndrome but optic atrophy was absent; instead, they had glaucoma and keratoconus; hypogonadism was present in both patients. biopsy and autopsy findings show that the GAPO syndrome is a dyshistogenetic sequence due to accumulation of extracellular material and thus should be called GAPO dysplasia. We suggest that the basic defect in this autosomal recessive disorder is possibly related to a lack of breakdown of the extracellular components, perhaps due to an enzyme deficiency involved in the metabolism of extracellular matrix.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
6/18. Cherry-red spot, optic atrophy and corneal cloudings in a patient suffering from GM1 gangliosidosis type I.We report a case of GMI gangliosidosis type I with cherry-red spot, optic atrophy, and corneal cloudings. The diagnosis was confirmed by the deficiency of beta-galactosidase enzyme in leucocytes and in urine.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
7/18. Ocular aspects in biotinidase deficiency. Clinical and genetic original studies.There are two distinct forms of multiple carboxylase deficiency. A neonatal onset form is due to deficiency of holocarboxylase-synthetase. A later onset form in which neurological abnormalities are seen as well as those of the skin and hair is due to biotinidase deficiency. It is the purpose of this report to describe a patient with biotinidase deficiency who presents bilateral optic atrophy. The dosage of biotinidase enzyme in the patient's serum and in other members of his family confirms the autosomal recessive transmission of this condition.- - - - - - - - - - ranking = 4707.9642348339keywords = biotinidase deficiency, biotinidase, deficiency (Clic here for more details about this article) |
8/18. Ocular histopathology of acrodermatitis enteropathica.acrodermatitis enteropathica is the clinical expression of congenital zinc deficiency and is now treated with supplemental zinc. This report details the ocular histopathology of a child who died before efficacious treatment was available. The findings include corneal epithelial thinning and loss of polarity, anterior corneal scarring and loss of Bowman's membrane, cataract formation, ciliary body atrophy, retinal degeneration, RPE depigmentation, and optic atrophy.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
9/18. Ocular findings in metachromatic leukodystrophy. An electron microscopic and enzyme study in different clinical and genetic variants.Histopathological studies of the eyes from three patients affected with the infantile form of metachromatic leukodystrophy (MLD) showed the storage of metachromatic complex lipids in the retinal ganglion cells, in the optic nerve and the ciliary nerves, as well as the storage of a mucopolysaccharide-like material in the nonpigmented epithelium of the ciliary body. The lesions were limited to the optic, ciliary, and sensory nerves in a fourth patient with the juvenile form of the disorder. These morphological aspects, which are probably related to differences in sulfatase A activities, may explain the variability of the ocular manifestations in metachromatic leukodystrophy. Seven children affected with infantile MLD or with mucosulfatidosis were examined by conjunctival biopsy. Typical lesions of the sensory nerves were obvious and allowed the diagnosis of the disease. However, it seemed impossible to separate the different forms by histopathological studies only. The tear enzymes were assayed in most of the cases and demonstrated a profound deficiency of arylsulfatase A, or of arylsulfatase A and B, in the classical MLD and in mucosulfatidosis, respectively.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
10/18. Primary central nervous system lymphoma without intracranial mass in a child. diagnosis by documentation of monoclonality.Primary central nervous system lymphoma is a rare presentation of lymphoma and is usually seen in adults, often in association with immunodeficiency. Evaluation of these patients classically shows discrete intracranial lesions, and long-term prognosis despite treatment is poor. The case of a child is presented who had no identifiable predisposing factors, no radiologic evidence of intracranial mass, no evidence of systemic disease, and in whom the diagnosis of primary CNS lymphoma was made based on documentation of a monoclonal population of malignant B-cells in the cerebrospinal fluid. The patient, in whom irreversible blindness developed, was treated with a combination of cranial radiation, and intrathecal and systemic chemotherapy, and is currently alive and disease-free 15 months after diagnosis.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
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