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Biomedical subjects

J R Cruysberg

Publications and source records attributed to J R Cruysberg.

At least 19 recordsLinked to original sources
PubMed1992

[Cardiovascular abnormalities in Marfan syndrome].

During the period February to December 1990, 52 adult patients were referred to our clinic for evaluation of the presence of the Marfan syndrome. In 24 out of 52 patients the Marfan syndrome was diagnosed. Cardiac abnormalities were found in all patients: mitral insufficiency because of mitral valve prolapse (83%), aortic dilatation (67%), aortic insufficiency (38%), tricuspid valve insufficiency with or without tricuspid valve prolapse (17%) and atrial septal defect (4%). In 3 patients an aneurysm of the ascending aorta was found. Early recognition of the Marfan syndrome is relevant for prevention of the life threatening complication of aortic dissection. In patients with valve abnormalities endocarditis prophylaxis is advised. A Marfan outpatient clinic offers optimal diagnostic possibilities.

Abnormalities, Multiple↗
PubMed1992

Familial adult-onset muscular dystrophy with leukoencephalopathy.

We report on 3 siblings with an adult-onset, predominantly distal muscle weakness. In the female index patient this was associated with epilepsy and a progressive spastic ataxic gait, while the 2 other siblings had no appreciable clinical nervous system involvement. Additional investigations revealed muscular dystrophy and leukoencephalopathy in all 3 siblings. We conclude that this familial adult-onset muscular dystrophy associated with leukoencephalopathy represents a newly recognized autosomal recessive syndrome.

Adenosine Triphosphate↗
PubMed1991

Familial congenital grouped pigmentation of the retina.

Congenital grouped pigmentation of the retina is an uncommon disorder characterized by a grouping together of round to oval spots of pigment in one or more quadrants of the retina, except for the macula. Detection is usually coincidental during routine ocular examination. We examined a mother and daughter with bilateral grouped pigmentation of the retina. Visual acuity, visual fields, and results of electrophysiologic examination were normal. Autosomal dominant inheritance with variable expression was likely.

Adult↗
PubMed1991

Congenital arteriovenous communications and the development of two types of leaking retinal macroaneurysms.

We treated a patient with a rare combination of congenital arteriovenous communications and the development of leaking macroaneurysms of different types. Initially, leaking macroaneurysms developed in the shunt area of the arteriovenous communication; later, a preexistent fusiform macroaneurysm in the afferent arteriole of the congenital communication started leaking. Because exudates and fluid from the leaking macroaneurysms reached the fovea, laser treatment was performed to obliterate the macroaneurysms. We assume that after obliteration of the macroaneurysms with laser in the shunt area, the increase of hydrostatic pressure on the thin wall of the fusiform aneurysm of the afferent artery led to its leaking. We saw no signs of vascular occlusion after laser treatment.

Arteriovenous Fistula↗
PubMed1990

[Hyperostosis cranialis interna; a new syndrome with autosomal dominant inheritance].

A family is described which currently comprises nine individuals, spanning three generations, who are affected with a bone disorder which is confined to the skull and is accompanied by impaired function of the cranial nerves. Radiological examination showed intracranial hyperostosis and osteosclerosis of the calvaria and the base of the skull, without involvement of the mandible or other skeletal bones. Invariably, the main presenting symptom was recurrent facial nerve paralysis from late childhood onwards, but concurrent and variable involvement of the olfactory, optic, vestibular and acoustic nerves was seen; this could be attributed to nerve compression by the bony encroachment into the cranial foramina. Morphological investigations revealed increased formation of bone tissue with a normal structure. The pedigree suggests an autosomal dominant mode of heredity. A review of the literature did not disclose any previous reports on this disorder.

Adolescent↗
PubMed1990

Dominant inherited tilted disc syndrome and lacquer cracks.

Three patients with the tilted disc syndrome from one family were examined. The presence of the trait in three consecutive generations suggests an autosomal dominant mode of inheritance, although in these patients with variable expression. The propositus showed bilateral inferonasal retinal ectasia, with atrophic subretinal scars. Linear-like lacquer cracks, radiating from the central scars, were also present running parallel to the margin of the optic nerve head. The linear streaks were very similar to those usually seen in traumatic tears of Bruch's membrane. The mechanical stretching of the ectatic area, and its abnormal location inferonasal to the optic disc might have been responsible for the unusual pattern of the lacquer cracks in our patient.

Adult↗
PubMed1990

Pars planitis in father and son.

The authors examined a family in which father and son presented with pars planitis. Both of them and the paternal grandparents were HLA typed; no association between HLA antigens and pars planitis was found. Present and previous data suggest a relation between pars planitis and allergic predisposition.

Adrenal Cortex Hormones↗
PubMed1989

Chromatopsia.

More than half of the cases with complaints of chromatopsia had recent-onset retinal pathology. Erythropsia due to bright (sun-)light is a relatively common finding in aphakia and pseudophakia. UV-coated intraocular lenses do not provide complete protection. Cerebrovascular chromatopsia usually occurs in transient attacks.

Aged↗
PubMed1989

Spontaneous repair of lower eyelid after tumour excision.

Twelve patients with a clinical diagnosis of basal cell carcinoma of the lower eyelid were treated with a margin-including full-thickness excision of the lower eyelid. Apart from cauterization of bleeding vessels this excision was the sole primary surgical procedure in these patients. The resulting defects of 1/3 to 3/4 of the horizontal extent of the lower eyelid and varying in height from 4 to 8 mm healed spontaneously within a few weeks. The cosmetic appearance continued to improve over a further 1-2 months. There were few ocular or palpebral complications, although in one patient there was a recurrence of a basal cell carcinoma. The cosmetic and functional results were good in all patients. The surgical procedure could be performed on an outpatient basis under local anaesthesia in 10-15 min.

Aged↗
PubMed1989

Congenital adduction palsy and synergistic divergence: a clinical and electro-oculographic study.

We studied two patients with a peculiar congenital disturbance of ocular motility in which the horizontal movements of the left eye were always opposite the normal expected direction. The common features were: (1) congenital monocular adduction palsy and exotropia of the left eye; (2) simultaneous abduction of both eyes (divergence) on attempted dextroversion; (3) ocular torticollis, head turned to the right; and (4) inverse nystagmus of the left eye, occurring spontaneously as well as during optokinetic and vestibular testing. Clinical and electrooculographic findings suggested a close relationship to Duane's retraction syndrome and supported the concept that innervational mechanisms were responsible for the phenomenon.

Adult↗
PubMed1987

Pattern dystrophy of the retinal pigment epithelium.

We describe six related patients presenting with an autosomal dominantly inherited pattern dystrophy of the retinal pigment epithelium, significantly abnormal electro-oculogram and minor colour vision abnormalities. There is a continuum of variable phenotypic expression within the pattern dystrophies of the retinal pigment epithelium.

Adolescent↗