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Results for “Sturge-Weber Syndrome”

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At least 19 recordsLinked to original sources
PubMed1975

Supernumerary bisatellited chromosome in a family ascertained through a patient with Sturge-Weber syndrome.

The presence of a structurally abnormal extra chromosome in a patient with Sturge-Weber syndrome and several members of her family is described. With routine techniques the abnormal chromosome is slightly submetacentric, of the size of a G group chromosome and shows satellites on both arms. C-banding suggested the presence of 2 centromeric regions rather than one, and to explain this finding, in addition to the segregation of the abnormal chromosome through 3 generations and why only one centromere is visible with the usual cytogenetic technique, an hypothesis is advanced suggesting that it resulted from an unusual type of Robertsonian translocation, in which one of the breacks involved directly the centromere of an acrocentric producing a partially dicentric bisate-lited chromosome. The association of Sturge-Weber syndrome with the chromosome abnormality is thought to be fortuitous and the lack of clinical manifestations of all members of this family with the abnormal chromosome, including one with two extra ones, is explained by the fact that it was almost entirely formed by heterochromatic material. The usefulness of C-banding in the study of this patient is strongly emphasized.

Angiomatosis↗
PubMed1975

Familial translocation t(3p-;21q+) associated with both Down's and Sturge-Weber's syndrome in unbalanced state.

A boy with both Down's and Sturge-Weber's syndrome was found to have a partial trisomy 21 as a consequence of a familial translocation t(3p-;21q+) which is not reciprocal. Judging from the structure of the involved chromosomes studied by banding and photometrical techniques, the loss of relatively large material of 21q is to be suggested. The meiotic segregation appears to depend on the involved 3p segment and not on the involved centromere of No. 21 as actually expected. The pedigree of the family shows 6 balanced carriers through 3 generations in addition to the propositus. The risk of having offspring with Down's syndrome obviously concerns female carriers in the first place, whereas the male carriers rather produce balanced carriers. Of the additional Sturge-Weber's syndrome there was no cytogenetical cause as expected.

Angiomatosis↗
PubMed1979

Double phakomatosis.

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.

Adolescent↗
PubMed1979

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.

Birth Injuries↗
PubMed1979

The skin, the eye, and systemic disease.

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.

Behcet Syndrome↗
PubMed1975

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.

Angiomatosis↗
PubMed1975

[2 new cases of Klippel-Trenaunay syndrome].

After a brief account of the history and pathogeny, two cases are described of sub-angiomal bone hypo and hypertrophy. Other cases in the literature are recalled. Finally, a differential diagnosis is given.

Adult↗
PubMed1978

Neurocutaneous syndromes.

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.

Ataxia Telangiectasia↗
PubMed1978

[Isolated arterial blood vessel dysplasia in Sturge-Weber-Syndrome (author's transl)].

An 18 year old patient is reported who suffered from cerebral convulsions, originating in the right hemisphere, beginning at age fourteen. Explorative trepanation of the scull was carried out after confirmation of (1) discreet neurologic disturbances on neurologic examination in the right hemisphere, (2) focal sign on the right side in the EEG (focal slowing and focal sharp wave), and (3) a right-parietal increase of radioactive activity in the scintigram. Cerebral angiographia, insufflation encephalographia, skull x-rays and the ophthalmologic examinations were without pathologic findings. During trepanation a macroscopically typical finding of Sturge-Weber-syndrome could be demonstrated (angioma capillare et venosum) covering almost the entire right posterior hemisphere.

Adolescent↗
PubMed1977

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.

Adolescent↗
PubMed1979

Birthmarks with serious medical significance: nevocullular nevi, sebaceous nevi, and multiple café au lait spots.

Birthmarks of potential medical significance were identified among 4,641 newborn infants: 1.1% had a nevocellular nevus and 0.3% had a sebaceous nevus; 1.8% of black infants, but no white infants, had three or more café au lait spots. The large nevocellular nevus is considered premalignant, but the significance of the small nevocellular nevus has not been established. The sebaceous nevus fades after birth but undergoes hyperplasia at puberty. Multiple café au lait spots occur less commonly in white than in black infants, and are therefore of greater concern as possibly an early sign of neurofibromatosis.

Child, Preschool↗