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Congenital glaucoma before and after the introduction of microsurgery. Results of "macrosurgery" 1943-1963 and of microsurgery (trabeculotomy/ectomy) 1970-1974.
Primary trabeculotomy (in five eyes "converted" to trabeculectomy) normalized the tension in all 21 eyes with congenital glaucoma without associated diseases, (mean postoperative tension 12 mmHg, range 8-20 mm). Re-operation was needed for only one eye. Preoperatively glaucomatous cupping was present in 18 of these 21 eyes. Ten of the 18 eyes with glaucomatous cupping were operated upon before the age of 6 months two before 11 months and the appearance of the disc was normalized in these 12 eyes. Repeated trabeculotomy, -ectomy was without success in three of five operated eyes in patients with congenital glaucoma of several years duration previously treated by "macrosurgery". In patients with associated diseases normal tension was achieved by means of trabeculotomy/-ectomy in two eyes in two Sturge-Weber children with unilateral congenital glaucoma and in both eyes in a child with a chromosomal defect with bilateral congenital glaucoma. Repeated trabeculotomy/ectomy was on the other hand without success in a child with bilateral aniridia with congenital glaucoma and hydrocephalus. Presupposing acute or subacute microsurgery, the present operative results of congenital glaucoma without diseases are far better than those obtained in previous decades by "macrosurgery" which, despite frequent re-operations, effected normalization of the tension in only 61% of the eyes (11 of 26 patients (42%) with bilateral congenital glaucoma without associated diseases and treated by macrosurgery in previous decades were under the Care of the Blind).
[Genetic counseling in hematologic diseases].
In patients with hereditary haematologic diseases risk of repetition of these anomalies in brothers and sisters of probands and their progenies was assessed. In haemiphilia and Wiskott-Aldrich's. thrombocytopenia, both caused by a mutant gene in an X chromosome, prenatal pole determination was consulted in order to have a pregnancy with a male fetus interrupted due to high risk. Dominantly hereditary spherocytosis, eliptocytosis, chronic benign neutropenia are the diseases which do not appear in such a severe form that ceasation of further pregnancies should be consulted, instead, an early postnatal diagnosis is suggested to the families with increased risk of these anomalies. In the recessive hereditary beta thalassemia and in Fanconi's anemia in which prenatal diagnosis can not be made for the time being, level of risk for the further children is told to the parents after the child has been born. The parents are then left to decide whether to take a risk and have other children who might suffer of these severe haemolitic diseases. In the haemolitic diseases with often occurrence in certain families, but in which the manner of inheritance is not clear, as for example in the Kasebach-Meritt's syndrome, risk for the following children is uncertainly increased so that the genetic counsel is uncertain and unprecise. In the hereditary haemolitic diseases which appear sporadically, either of known or unknown etiology, such as congenital teleangiectasis of capillary vessels or Sturge-Weber's syndrome with severe vascular and nerval disorders, the parents are stimulated to further pregnancies as they are not followed by increased risk.
The pathogenesis of glaucoma in Sturge-Weber syndrome.
What is the cause of glaucoma in Sturge-Weber syndrome? Looking for the answer to this puzzling question, we examined 21 patients with the disease. Sixteen patients had gglaucoma: three bilateral and 13 unilateral. Episcleral hemangiomas were visible in all glaucomatous eyes. In general, the more extensive the hemangioma, the more severe was the glaucoma. During gonioscopy, blood could easily be made to reflux into Schlemm's canal of glaucomatous eyes. Often the canal separated into multiple fine channels. Episcleral venous pressure, which we measured in 11 patients, was high in all glaucomatous eyes. These observations suggest that glaucoma in Sturge-Weber syndrome is caused by elevated episcleral venous pressure. Most likely, veins draining aqueous from the canal of Schlemm are part of an intrascleral or episcleral hemangioma. The canal of Schlemm itself may be part of the hemangioma. Arteriovenous shunts in the hemangioma raise episcleral venous pressure, which in turn elevates intraocular pressure.
[Sturge-Weber syndrome associated with atlanto-occipital assimilation: a report of a case (author's transl)].
A unique association of Sturge-Weber syndrome and atlanto-occipital assimilation is presented. A 18-year-old male was admitted in emergency because of the sudden severe headache and vomiting. He had vascular nevus in the right half of the face at birth and several episodes of generalized convulsive seizures. On admission craniogram demonstrated calcification in the right occipital area. Neurological examination revealed tenderness in the nuchal region, moderate limitation of cervical mobility in a antero-posterior direction, Bruns-Cushing type nystagmus, bilaterally diminished gag reflex, and positive Romberg's test. Spinal tap showed crystal clear CSF with normal pressure. EEG showed paroxysmal slowing focus in the right parieto-occipital area. Polytomography of the craniovertebral junction demonstrated the unilateral atlanto-occipital assimilation on the left associated with the aplasia of the right posterior arch. Myelography was negative. A right carotid angiography disclosed the dilatation of the basal vein of Rosenthal and abnormal venous vasculature. CT-scan demonstrated the calcified region of the right occipital area more distinctly than the plain roentogenogram, but the enhancement study of the leptomeningeal angioma of the Sturge-Weber syndrome was negative. Never been found this rare association in a review of the literature, the authors discussed the clinical and radiological findings of both diseases.
[Neurocutaneous dysplasias in childhood].
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[Association of Klippel-Trenaunay and Sturge-Weber syndromes].
A woman aged 46 years, an epileptic, with no family history of hereditary disorders consulted a doctor in 1972 because of an ulcer on the right foot. She presented varices, lengthening of the right leg, and an angioma. The three components of the Klippel-Trenaunay syndrome were present. The angioma also involved the trunk, the right arm and the head where there was predilection for the trigeminal region. Radiograms of the cranium show a "pumice-stone" appearance of the dome and deformation of the sella turcica. The electroencephalogram showed slow waves appearing during hyperpnoea in the right temporo-rolandic region. These different elements made it possible to diagnose the Sturge-Weber syndrome. This association of the Klippel-Trenaunay and Sturge-Weber syndromes did not appear clinically to have been due to chance but appeared to be one disease akin to the phakomatoses. Thus the two syndromes that were associated can each be considered as phakomatosis.
[Phakomatoses. Ophthalmological and genetic aspects].
Detailed ophthalmological and genetic studies on the four classical types of phacomatoses and more succint studies of twelve syndromes which can be considered as atypical forms of phacomatoses. Discussion of the association between the different forms of phacomatoses. Establishment of genetic prognoses.
Computed tomography for neurological intensive care patients. Report on one hundred CT examinations.
The first 100 computed tomographic (CT) examinations of the patients on the neurological intensive care ward are discussed and reported on the basis of selected typical findings. Characteristic patterns of the CT findings in determined cerebral diseases are explained. The possibility and necessity of CT observations of the development, of inflammatory and cerebrovascular processes in particular are emphasized. A comparison of our experience with CT and other neuroradiological methods, is made. The clinical diagnoses, including the respective number of cases and the pertinent CT findings, are presented in a Table.
[Intracerebral calcifications associated with intrathecal methotrexate therapy in acute lymphocytic leukemia (author's transl)].
A case of a child with acute lymphocytic Leukemia is reported. The roentgenograms of the skull show intracerebral "railroad-track-like" calcifications mimicking those seen in Sturge-Weber syndrome. These calcifications are described and their etiology is discussed. The frequency of such observations in cases of acute lymphocytic leukemia with CNS-treatment is increasing.
[Contrast-free radiological diagnosis of the skull (author's transl)].
From the broad spectrum of contrast-free radiological diagnosis of the skull, diseases with asymmetrical appearance of the face were selected and the syndromes similar to them are presented from the differential diagnostic point of view. Asymmetry of the head very frequently indicates a disease of the skull area and should be subjected to appropriate diagnostic investigations.
Congenital craniocerebral abnormalities and computed tomography.
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The diagnostic value of serial brain scanning.
A survey of the literature pertaining to several serial brain scanning procedures has been presented. These procedures include rapid brain imaging, sequential brain imaging, delayed from imaging, and follow-up brain imaging. Applications of these techniques to specific clinical problems have been stressed and the reported results reviewed. Thus, it has been indicated that rapid brain imaging is most useful in detecting lesions secondary to cerebrovascular disease but may also provide some helpful information pertaining to the differential diagnosis of other C.N.S. lesions demonstrated on subsequent static brain scans. Sequential brain imaging is a time-consuming adjunctive procedure which, however, can be extraordinarily helpful in a highly selected group of problem cases which present with relatively small lesions adjacent to normal anatomic structures which themselves have considerable radioactivity. Delayed brain imaging has the distinction of detecting the greatest number of intracranial lesions but is attended by tactical problems in maintaining an optimal patient flow through the department and also has the undesirable consequence of reduced information density and diminished image quality, unless greater radiation doses are injected. Follow-up brain imaging is useful in the differential diagnosis of cerebrovascular and neoplastic disease and in the assessment of effectiveness of radiation therapy.
Cerebrovascular disease.
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Relative significance of isolated infantile convulsions as a primary cause of focal epilepsy.
Isolated infantile convulsions were noted in 206 patients (13%) of 1,572 patients who underwent cortical resection for medically refractory focal epilepsy at the Montreal Neurological Institute over the period 1928 through 1977. In 59 patients (29% of the 206), the isolated infantile convulsion was associated with an identifiable febrile systemic or neural illness. In 54 patients (26%), there was a definite history of cerebral birth injury in addition to the isolated infantile convulsions. Twenty patients (10%) had some other potential etiological factor for the later development of seizures, such as postnatal head injury, Sturge-Weber syndrome, etc., in addition to the isolated infantile convulsions. In 95 patients, 6% of the total 1,572 patient series and 41% of those with isolated infantile convulsions, the latter was the sole apparent cause for the later development of recurring seizures. Although this was the case in a small but significant percentage in this series of patients, more frequently, the isolated infantile convulsion represents a manifestation of invasion of the brain by an infectious agent of a systemic or brain disease, or is a harbinger of the later development of a seizure tendency due to some other preexisting etiological factor.
[Association on Sturge Weber and Klippel Trenaunay Weber syndromes. Apropos of 2 cases].
The present paper describes two patients with Sturge-Weber and Klippel Trénaunay-Weber syndromes. Some etiopathogenic factors are analyzed. We suggest that the association of both diseases in the same patient may be due to a single autosomal dominant gene.
Macrocephaly in association with unusual cutaneous angiomatosis.
Ten patients are presented who demonstrate a newly recognized association of macrocephaly with unusual angiomatosis and limb asymmetry in three somewhat similar cutaneous vascular disorders: Klippel-Trenaunay-Weber syndrome, the combination of Sturge-Weber anomaly with Klippel-Trenaunay-Weber syndrome, and cutis marmorata telangiectatica congenita. The etiology of the macrocephaly in patients with these conditions is unknown. The majority (seven of ten) of these children have no evidence of central nervous system dysfunction.
[Combination of the syndrome of Sturge-Weber and the syndrome of Klippel-Trénaunay (author's transl)].
Up until now 39 cases of combined Klippel-Trénaunay syndrome and Sturge-Weber syndrome have been described. Here follows the report of a girl, now 4 years of age, displaying a full combination of these syndromes. Only a small part of the body surface is not covered with naevi teleangiectatici laterales. The patient has clear hypertrophy of the left cheek and of the left lower extremity, less noticeable on the left upper extremity. For therapeutic reasons the left side of the head and the left lower extremity were thoroughly angiographically examined--this revealed typical abnormalities. The vessel-alteration of the lower extremity are not extremely far developed and arteriovenous fistulas on a large scale are also absent. This allows us to dismiss the F.P. Weber syndrome on the one hand, while it explains the absence of complications of the Klippel-Trénaunay syndrome, as described in literature, on the other. The significance of the alterations of lymph nodes in this disease, which we are the first to describe, is at present not fully clear. The cerebral attacks have until now showed only a temporary response to medication.