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Biomedical subjects

J R Cruysberg

Publications and source records attributed to J R Cruysberg.

At least 37 records · Page 2Linked to original sources
PubMed1998

Treatment and follow-up of children with cerebrotendinous xanthomatosis.

UNLABELLED: The clinical spectrum and the effects of treatment over a period of 5 years in five children with cerebrotendinous xanthomatosis (CTX) are described. In all children biochemical, neuroradiological, and neurophysiological studies were done. CTX was diagnosed and effects of therapy were evaluated by determination of the serum cholestanol/cholesterol ratio (CCR) and the urinary excretion of bile alcohols. All children were treated with chenodeoxycholic acid (15 mg/kg/day) in three divided oral doses. Diarrhoea and juvenile cataract were the main clinical features. Psychomotor retardation, pyramidal and cerebellar signs were also found. After starting treatment, biochemical abnormalities normalized and diarrhoea disappeared. After 1 year of therapy there was no further delay in motor development, and in three children the intelligence quotient improved. EEG abnormalities disappeared. After 5 years of therapy the children are in a stable clinical condition. CONCLUSION: The clinical, biochemical and neurophysiological abnormalities in five children with CTX showed a remarkable improvement after starting treatment with chenodeoxycholic acid. The early diagnosis of CTX and the start of treatment with chenodeoxycholic acid has prevented neurological deterioration for a period of 5 years.

Adolescent↗
PubMed1998

Congenital corneal anesthesia in children with the VACTERL association.

PURPOSE: To describe ocular manifestations in patients with the VACTERL (vertebral, anal, cardiovascular, tracheoesophageal, renal, and limb defects) association. METHOD: We reviewed the medical records of patients with the VACTERL association who had undergone treatment for amblyopia at the orthoptic department. RESULTS: A striking similarity was found in three unrelated children, who, in addition to clinical manifestations of VACTERL association, showed total corneal anesthesia of one or both eyes that had resulted in recurrent corneal erosions, keratitis, and permanent corneal opacities. Other ocular manifestations included nonparalytic strabismus, anisometropia, and amblyopia. CONCLUSION: Congenital corneal anesthesia may be part of the VACTERL association.

Abnormalities, Multiple↗
PubMed1998

Optic neuropathy in McCune-Albright syndrome: an indication for aggressive treatment.

McCune-Albright syndrome consists of the triad polyostotic fibrous dysplasia, café-au-lait spots and autonomous hyperfunction of one or more endocrine systems. The most frequent neurological complication of craniofacial fibrous dysplasia is visual loss. We describe a 17-y-old boy with McCune-Albright syndrome and acute loss of vision in the left eye caused by encroachment of the left optic nerve by fibrous dysplastic lesions. Neurosurgical intervention improved left eye vision. Aggressive intervention is indicated in cases of acute visual loss in patients with craniofacial fibrous dysplasia. This is supported by a review of other reported cases.

Adolescent↗
PubMed1998

Bilateral, anterior stromal ring opacity of the cornea.

AIMS/BACKGROUND: To describe a bilateral, mid peripheral, ring-shaped corneal opacity, not resembling any known corneal degeneration, dystrophy, or other disorder, and occurring without ocular or systemic disease. METHODS: Ophthalmic examination, haematological screening, and ultrasound biomicroscopy. RESULTS: A 25 year old man showed grey-white, granular opacities in both corneas, with an 8 mm diameter ring configuration, and a V-shaped distribution in the anterior stroma. The surrounding corneal stroma was clear, and the tear film, the epithelium and its basement membrane, Descemet's membrane, and the endothelium were normal. Evidence of systemic disease was not found. Family members did not show corneal abnormalities. CONCLUSION: A bilateral corneal ring opacity may occur in healthy, asymptomatic, young people. These corneal rings may result from depositions of unknown origin, or possibly a rare corneal dystrophy.

Adult↗
PubMed1998

Intracranial repair of a divided trochlear nerve. Case report.

The authors report the case of a 37-year-old woman in whom the trochlear nerve was transected during removal of a meningioma in the cavernous sinus and subsequently repaired by using microsurgical techniques. This patient presented with a tumor in the posterior part of the right cavernous sinus with expansion over the tentorium. Preoperatively, she suffered from partial deficit of the right trochlear nerve. Intraoperatively, the trochlear nerve was noted to be completely encased by the tumor and was totally divided during removal of the lesion. After tumor resection, the trochlear nerve was repaired by using a sural nerve fascicle secured with sutures and fibrin glue. Six months after the operation, trochlear nerve regeneration became evident as the patient's binocular vision gradually improved. The patient regained normal functioning of the superior oblique muscle 3.5 years after surgery. It is concluded that repair of a divided trochlear nerve is worthwhile and can be followed by successful regeneration and an excellent functional recovery of the superior oblique muscle.

Adult↗
PubMed1998

Successful surgical repair of progressive exophthalmos caused by a meningocele in a patient with neurofibromatosis Type 1. Case report.

A case of surgical repair of progressive exophthalmos of the right eye in a 43-year-old woman with neurofibromatosis Type 1 (NF1) is presented. Preoperatively, the patient's ocular movements and visual fields were intact. Visual acuity was 20/30 on the right side and 20/20 on the left. Computerized tomography scanning demonstrated complete absence of the superolateral orbital wall on the right side with a large meningocele protruding into the right orbit. Intraoperatively, a new superolateral wall was constructed using the inner table of the left frontal bone as a bone transplant. A free galeoperiosteum flap was used for water-tight dural reconstruction. A few weeks postoperatively the patient's exophthalmos showed remarkable resolution. Her ocular movements, visual acuity, and visual fields remained unchanged. In conclusion, reconstruction of the superolateral wall and repair of a meningocele in a patient with NF1 is worthwhile and can be followed by excellent cosmetic results. More important, the patient's visual functions remain preserved.

Adult↗
PubMed1997

Listing's plane dependence on alternating fixation in a strabismus patient.

Listing's law of the eye is one of the best studied findings in motor control, but its functional meaning is still incompletely understood and its status in neurological disorders and in strabismus is almost entirely unknown. We investigated the mechanisms underlying Listing's law and its possible clinical relevance. The dual magnetic search coil technique was used to record three-dimensional binocular eye movements in a stereoblind strabismic patient with good visual acuity in both eyes and capable of voluntarily alternating fixation. This technique yielded an accurate, objective and simultaneous measure of ocular misalignment in three dimensions and showed that the squint angle depended on which eye was fixating. Saccadic eye movement data throughout the oculomotor range were used to fit Listing's plane. Listing's primary position and the thickness of the plane for each eye were calculated for three different fixation conditions. For comparison, control measurements were taken from four normals. In the patient, no large deviations from normal values for the thickness of Listing's plane and the confidence limits of the Listing primary position were found. The most remarkable abnormality was that the orientation of Listing's plane depended on which eye was fixating. Both the change in ocular misalignment and the shift of Listing's primary positions observed when changing fixation are probably linked to accommodation-related vergence. Despite repeated surgery at early age, the patient had well-defined Listing planes for both eyes, but their alignment during left-eye fixation was abnormal. The obedience to Listing's law may reflect a strategy which minimizes muscular effort in each eye separately. The abnormal fixation-condition dependence is probably due to an aberrant coupling with vergence.

Adult↗
PubMed1996

Delay in diagnosis of homocystinuria: retrospective study of consecutive patients.

OBJECTIVE: To assess the causes for delay in the diagnosis of homocystinuria. DESIGN: Clinical and laboratory data were collected from patients diagnosed as having homocystinuria due to cystathionine synthase deficiency, with special reference to the ages at which the patients had their first major signs of the disease, ectopia lentis was established, and homocystinuria was diagnosed. SETTING: University hospital in the Netherlands. SUBJECTS: 34 patients (18 males) in whom homocystinuria due to cystathionine synthase deficiency was diagnosed in the period 1970-94. RESULTS: Among 34 consecutively detected homocystinuria patients the mean age at diagnosis of homocystinuria was 24 (range 1-61) years. Despite frequent ocular manifestations, serious complications in the vascular, skeletal, and central nervous systems, and repeated examinations performed in these patients by clinicians of various disciplines, there was a mean delay of 11 (0-43) years between the first major signs of the disease (at mean age 13 (1-40) years) and the ultimate diagnosis of homocystinuria. Even when ectopia lentis was diagnosed (in 26 (76%) patients, mean age 18 (1-50) years), this did not lead to adequate biochemical analysis for homocystinuria at the time of detection, causing a mean diagnostic delay of 8 (0-24) years in these patients. CONCLUSIONS: Three factors should have precipitated the diagnosis of homocystinuria: early recognition that unusual myopia (high, very high, abnormal progressive, or at young age) was caused by subluxation of the ocular lenses; awareness that the occurrence of myopia combined with systemic complications ("myopia plus") might be due to homocystinuria; and appropriate biochemical investigations carried out in patients with ectopia lentis and in their siblings.

Adolescent↗
PubMed1996

Prevalence of familial mild hyperhomocysteinemia.

Previous studies have shown that elevated basal homocysteine levels are correlated among family members of patients with coronary vascular disease and juvenile venous thrombosis. This suggests the possibility of the presence of inherited basal mild hyperhomocysteinemia (mHH). We studied homocysteine levels, fasting as well as after methionine load, among 96 family members of 21 post-load hyperhomocysteinemic vascular index patients, i.e. 6 parents, 27 offspring, 38 siblings, 19 uncles and aunts and 6 cousins. In 15 out of 21 screened families post-load mHH was established in at least one family member. Fasting and post-load mHH was observed in 19 out of 89 (21%) screened family members (fasting homocysteine levels not measured in seven family members), and 31 out of 96 screened family members (32%), respectively. In 40% of all family members, post-load mHH was not accompanied by fasting mHH. We conclude that both fasting and post-load mHH seems to be inherited in the majority of hyperhomocysteinemic vascular patients.

Adult↗
PubMed1996

Visual hallucinations in psychologically normal people: Charles Bonnet's syndrome.

BACKGROUND: Charles Bonnet's Syndrome (CBS), characterised by the presence of complex visual hallucinations in psychologically normal people, was considered for a long time to be rare. Systematic research on CBS has been limited. However, it has been realised that CBS occurs frequently in elderly, visually handicapped patients, and we have been able to study the syndrome in a large number of patients. METHODS: After screening 505 visually handicapped patients, 60 were found to meet proposed diagnostic criteria for CBS (generally, the existence of hallucinations without delusions or loss of insightful cognition.) Psychopathological characteristics, personal meaning, and the emotional impact of hallucinations, as well as factors influencing the hallucinations, were analysed. FINDINGS: Although diagnostic criteria demand merely "partial insight", all patients had full insight into the unreal nature of their hallucinations. Other characteristics varied. In 46 (77%) patients, hallucinations lacked a personal meaning. Sensory deprivation and a low level of arousal seemed to favour the occurrence of hallucinations. CBS caused considerable distress in only 17 (28%) patients. However, all patients were glad to be told that their hallucinations were not due to mental disease. The proper diagnosis had been made in only one of the 16 patients who had consulted a doctor. INTERPRETATION: Although largely unrecognised in clinical practice, CBS should be considered as a diagnosis in patients who complain of hallucinations and who meet defined diagnostic criteria. There is no proven treatment, but many patients will benefit from reassurance that their hallucinations do not imply mental illness.

Aged↗
PubMed1996

Recurrent intrascleral cyst after strabismus surgery.

BACKGROUND: Intrascleral epithelial inclusion cysts have been described after ocular trauma, scleral buckling and strabismus surgery. They are usually small, asymptomatic and located anteriorly. CASE REPORT: The clinical history of a 9-year-old girl who developed a huge epi- and retrobulbar intrascleral cyst in both the upper and the lower nasal quadrants after multiple strabismus operations is described. RESULTS: Surgical resection of the cyst wall was twice unsuccessful. Drainage of the cyst, followed by the injection of tetracycline (30 mg/ml) in the cyst site, led to complete recovery. CONCLUSION: Recurrent posteriorly located intrascleral cyst can occur after strabismus surgery. Therapy consisting of drainage combined with intrascleral administration of tetracycline solution (30 mg/ml) to induce sclerodesis appeared to be effective during a 2-year follow-up period.

Anti-Bacterial Agents↗
PubMed1996

Chronic diarrhoea as a dominating symptom in two children with cerebrotendinous xanthomatosis.

The objective of this study was to describe diarrhoea as a dominating symptom of cerebrotendinous xanthomatosis (CTX), a lipid storage disease, and investigate its cause. Two children with chronic diarrhoea as the dominating symptom of CTX are presented. Before and after therapy with orally administered chenodeoxycholic acid (15 mg kg-1 24 h, in three divided doses) bile alcohol excretion in urine, serum cholestanol level, serum bile acid patterns and faecal bile acids were measured. All routine gastro-intestinal investigations before therapy were normal. Diarrhoea ceased immediately after starting treatment with chenodeoxycholic acid. Abnormal bile alcohol excretion in urine decreased rapidly during the first days and elevated serum cholestanol level normalized in 2 years. We postulate the presence of bile alcohols in the lumen of the gut as most likely cause for diarrhoea in CTX, since the rapid decrease of bile alcohol excretion is associated with prompt cessation of diarrhoea after starting treatment with chenodeoxycholic acid.

Administration, Oral↗