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In the phakomatoses--von Recklinghausen's disease, the Sturge-Weber syndrome, tuberous sclerosis, and von Hippel-Lindau disease--pathologic changes in the eye are often evident. Most cases are described as a single entity. The following is a case report of concomitant Sturge-Weber syndrome and von Recklinghausen's disease in which both conditions involved the eye.
The current status of research into chromosomal abnormalities in neurological diseases is reviewed. The only possible association between chromosome aberration and neurological disorder is found in ataxia telangiectasia and in tumours of the nervous system. In the remaining diseases reviewed, no specific association was confirmed. This was expected to some extent, since the majority of these diseases (spinal muscular atrophies, muscular dystrophies, etc.) are due to single gene defects.
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The neurocutaneous syndromes are a diverse group of diseases characterized by widespread abnormalities in structures of ectodermal origin, including the skin, eye, and central and peripheral nervous systems. These syndromes are particularly interesting to the clinician because they often present with cutaneous signs at birth or very early in life. These skin markers may be clues to widespread abnormality that may later develop in the nervous system and other areas of the body, making early diagnosis from careful assessment of cutaneous signs a particularly challenging task. Six of the most common of these syndromes are reviewed.
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Both the skin and the eye are easily accessible structures which may reflect systemic disorders. Certain systemic conditions frequently involve the oculocutaneous structures and will be discussed herein. The practitioner must be aware of these disorders, and the interrelationship of the skin and the eye.
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.
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.
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.
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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.
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.
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.
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.
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.