Biomedical subjects

W J Delleman

Publications and source records attributed to W J Delleman.

3 recordsLinked to original sources

PubMed1995

Long term ocular and neurological involvement in severe congenital toxoplasmosis.

AIMS: This study was set up to determine the long term ocular and systemic sequelae in patients with severe congenital toxoplasmosis. METHODS: Cross sectional and retrospective study of 17 patients with severe congenital toxoplasmosis. RESULTS: In addition to chorioretinitis (100%), the most common abnormal ocular features were optic nerve atrophy (83%), visual acuity of less than 0.1 (85%), strabismus, and microphthalmos. In 50% of cases we observed iridic abnormalities and about 40% developed a cataract. Overt endocrinological disease, diagnosed in five of 15 patients, included panhypopituitarism (n = 2), gonadal failure with dwarfism (n = 1), precocious puberty with dwarfism and thyroid deficiency (n = 1), and diabetes mellitus and thyroid deficiency (n = 1). The observed endocrinological involvement was associated in all cases with obstructive hydrocephalus with a dilated third ventricle and optic nerve atrophy. CONCLUSION: The recognition of long term ocular, neurological, and endocrinological sequelae of congenital toxoplasmosis is important for medical management of these severely handicapped patients.

Adolescent↗

PubMed1991

Ocular manifestations of congenital Marfan syndrome with contractures (CMC syndrome).

The authors present the results of ocular examination of six children with congenital Marfan syndrome with contractures (CMC syndrome). The ocular and neuroradiological findings of the CMC syndrome are discussed with reference to the literature. The ocular findings are: blue sclerae, megalocorneas, hypoplastic irides with complete translucency, miosis, spherophakia with or without lens dislocation and severe myopia. This study demonstrates that ophthalmological examination of children with congenital contractures and arachnodactyly is very helpful for diagnosis of the CMC syndrome. The authors stressed that ophthalmologists should not only look for luxation of the lens in children who are suspected of having CMC syndrome. Spherophakia was common in the children and could easily be observed through the translucent irides. Biometric evaluation of the eyes is recommended. All of the cases in this paper and reported cases are sporadic. No conclusions have been reached in the literature on whether the CMC syndrome represents the severe expression of the classical Marfan syndrome or a distinct entity. Maybe the answer will remain difficult, until the specific molecular defects in the collagen diseases are discovered. This study demonstrates that ophthalmological examination of the children with congenital contractures and arachnodactyly is very helpful for the diagnosis of CMC syndrome.

Abnormalities, Multiple↗

PubMed1988

Usher's syndrome, temporal bone pathology.

The histological findings in the right temporal bone of a 65-year-old deaf and blind man are presented. The subject suffered from the autosomal recessive Usher's syndrome, as did 2 of his 5 siblings. They are the offspring of a consanguineous marriage. This man died from an intra-abdominal hemorrhage. Within 3 h after death the temporal bones were donated for study and were processed for histopathological examination.

Aged↗