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Biomedical subjects

I Casteels

Publications and source records attributed to I Casteels.

At least 37 records · Page 2Linked to original sources
PubMed2000

Septo-optic dysplasia in combination with a pigmented skin lesion: a case report with nosological discussion.

In this case report a patient with bilateral optic nerve hypoplasia, schizencephaly and a pigmented skin lesion is described. The diagnosis of de Morsier syndrome or septo-optic dysplasia is put forward on the basis of the diagnosis of optic nerve hypoplasia. The differential diagnosis with Jadassohn's naevus phakomatosis is discussed. The importance of direct ophthalmoscopy of optic nerve abnormalities is stressed, as well as of magnetic resonance imaging, which has become a guideline in the classification of this syndrome.

Brain↗
PubMed2000

Visual loss as the presenting sign of Jeune syndrome.

We describe a 5-year-old girl with Jeune syndrome. The presenting symptoms included visual loss and night blindness only. In the neonatal period she had surgery on both hands for bilateral polydactyly. Following clinical and radiological examination a diagnosis of Jeune syndrome was proposed. Although Jeune syndrome is often characterized by multiple organ abnormalities, our patient presented with ocular symptoms at the age of 5 years.

Abnormalities, Multiple↗
PubMed2000

Sudden development of bilateral cataract in a child with Dubowitz syndrome: a case report.

The Dubowitz syndrome is a rare, autosomal recessive disorder including intrauterine growth retardation, craniofacial abnormalities, mental retardation and eczematous skin eruption. Ocular problems occur in about 20%: strabismus, blefarophimosis, ptosis, telecanthus and epicanthal folds being the most frequent ones. We present a three years old girl, diagnosed with Dubowitz syndrome, with sudden visual loss due to bilateral cataract.

Blepharoptosis↗
PubMed2000

Delayed diagnosis of retinoblastoma.

The aim of our study was to evaluate the age of the patient and the stage of retinoblastoma at diagnosis and to determine the time delay between the first symptoms noticed by proxy and the diagnosis of retinoblastoma. Therefore, thirty-three children between the age of zero and seven with the diagnosis of uni- or bilateral retinoblastoma were studied retrospectively. Thirty-one patients were diagnosed with advanced disease; two patients had small tumors. The mean time delay between the first clinical symptoms and the diagnosis of retinoblastoma was 3.2 months (range 2 months to 1 year). In our study most children with retinoblastoma were diagnosed with advanced disease. In some patients there was a significant time delay between the first symptoms and the final diagnosis of retinoblastoma. Better parental and environmental information regarding symptoms of retinoblastoma could help to assure earlier detection of tumors.

Calcinosis↗
PubMed1997

Empty sella, growth hormone deficiency and pseudotumour cerebri: effect of initiation, withdrawal and resumption of growth hormone therapy.

UNLABELLED: An 11-year-old boy with normal visus and eye fundus, but with empty sella, growth hormone (GH) deficiency and central diabetes insipidus was found to have intracranial hypertension with papilloedema after 6 months of catch-up growth under recombinant human GH (rhGH) replacement therapy. Withdrawal of rhGH therapy was associated with normalisation of intracranial pressure within 1 week. Three months later, resumption of rhGH therapy at a lower dose was again followed by pronounced growth acceleration, but now without papilloedema. CONCLUSION: Children with empty sella and GH deficiency may be prone to rhGH-induced pseudotumour cerebri which appears to be rapidly reversible and dose-dependent.

Child↗
PubMed1996

Leber congenital amaurosis--differential diagnosis, ophthalmological and neuroradiological report of 18 patients.

Between 1985 and 1995 eighteen babies, presenting to our department with absent visual contact and roving eye movements, showed a non-recordable flash electroretinogram (fERG). This was confirmed when repeated after a one-year interval. In four patients with developmental delay an underlying systemic disorder was diagnosed after a thorough pediatric neurological evaluation: Senior Loken syndrome, neuroaxonal dystrophy, ceroid lipofuscinosis and a yet unclear metabolic disorder were the revised diagnoses. The fourteen remaining patients were diagnosed as having primary idiopathic Leber Congenital Amaurosis (LCA). Three of them showed developmental delay. In all three cerebellar abnormalities were visualized on brain computed tomography (CT) and/or magnetic resonance imaging (MRI). Brain CT of the other eleven patients with age appropriate development was normal. We conclude that LCA is a diagnosis of exclusion and a cautious approach with a thorough history and pediatric neurological examination is necessary to exclude a more global pediatric neurological disorder.

Belgium↗
PubMed1996

Evolution of ophthalmic and electrophysiological findings in identical twin sisters with the carbohydrate deficient glycoprotein syndrome type 1 over a period of 14 years.

AIMS: To evaluate the evolution of ocular and electroretinographic findings in identical twin sisters with the carbohydrate deficient glycoprotein (CDG) syndrome over a period of 14 years. METHODS: Both girls underwent a clinical ophthalmic examination with funduscopy and an electrophysiological assessment with recording of flash electroretinogram (FERG) at the age of 4 years and 18 years RESULTS: On ophthalmic examination at the age of 4 years an alternating convergent squint and a saccadic pursuit was diagnosed. In both, vision was 6/9 bilaterally. Fundus examination showed normal optic discs, narrow blood vessels, and a mild irregular pigmentation in the periphery. In one girl the FERG showed a recognisable a, b1, and b2-wave with reduced amplitude to less than 40% of the normal. In the other girl the reduction in amplitude was still more obvious, but for the white flash a small b1-wave was still present. At the age of 18 vision had remained 6/9 in both eyes. Funduscopy showed pink optic discs, moderately narrowed blood vessels, and bony spicule pigmentary deposits in the mid periphery. The adapto ERG, performed in identical conditions at 18 years of age, showed a completely extinguished trace for both eyes. CONCLUSIONS: Despite progressive deterioration of ERG findings good central vision was preserved over 14 years.

Congenital Disorders of Glycosylation↗
PubMed1996

Ocular manifestations in Delleman syndrome (Oculocerebrocutaneous syndrome, OCC-syndrome) and encephalocraniocutaneous lipomatosis (ECCL). Report of three cases.

The authors present two patients with Delleman syndrome and one in with possible ECCL. Two boys with Delleman syndrome showed characteristic dysmorphic features with cerebral, ocular and skin malformations. The ocular anomalies consisted of eyelid coloboma, microphthalmia, iris coloboma and epibulbar lypodermoids. A third boy with possible ECCL syndrome had limbal lypodermoids, ectopia pupillae and aberrant iris tissue in the right eye. He showed an ipsilateral focal dermal hypoplastic defect within an area of alopecia of the scalp.

Abnormalities, Multiple↗
PubMed1994

Optic atrophy as the presenting sign in Hallervorden-Spatz syndrome.

A girl of eight years of age is described with the Hallervorden-Spatz syndrome. Optic atrophy with progressive visual loss was the only presenting symptom for three years. Behavioural and motor disturbances emerged after that time. Optic atrophy can be the first and for some time only symptom of the Hallervorden-Spatz syndrome.

Brain↗
PubMed1994

Septo-optic dysplasia.

The authors present three patients with the diagnosis of septo-optic dysplasia or 'de Morsier' syndrome. They stress the important role of the ophthalmologist in the diagnosis. With the advent of MRI, subtle central nervous system abnormalities have been recognized. A close ophthalmological and endocrinological follow-up is necessary.

Female↗
PubMed1994

Ocular findings in prematurely born children at the age of 12.

A group of 79 prematurely born children was assessed ophthalmologically at the age of 12 and compared with a group of 100 12 years old children born at term. Of the 79 children, results of neonatal eye examinations were available in 26 prematures (52 eyes). In 28 eyes no signs of retinopathy of prematurity (ROP) were detected (non-ROP group). In 24 eyes a stage 1 or 2 retinopathy of prematurity was present (ROB group). 75% of the children with ROP had an ophthalmological problem. Myopia (29%), hypermetropia (21%), astigmatism (37%) and strabismus (33%) were significantly higher. Considering the whole group of prematurely born children, there was more astigmatism (11%) and strabismus (13%). Preterm children, with or without ROP, are more prone to develop ocular problems.

Adolescent↗
PubMed1993

Early treatment of juvenile xanthogranuloma of the iris with subconjunctival steroids.

Five infants with biopsy proved juvenile xanthogranuloma of the iris were reviewed. Early treatment with subconjunctival injection of steroids and topical steroid drops resulted in regression of the lesion in four patients. One patient, reviewed at the age of 8 months after glaucoma which had developed secondary to the iris xanthogranuloma, had been treated by surgery alone: the visual outcome was very poor.

Administration, Topical↗