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Biomedical subjects

J W Delleman

Publications and source records attributed to J W Delleman.

13 recordsLinked to original sources
PubMed1978

Meningiomas in five members of a family over two generations, in one member simultaneously with acoustic neurinomas.

Despite four reports of familial occurrence of meningiomas, the inheritance of this tumor remains an open question. We describe a family in which four members in two generations had meningiomas without evidence of neurofibromatosis. Another member of the family, however, had multiple meningiomas and bilateral acoustic neurinomas, while yet another had multiple café-au-lait spots. We suspect that a highly unusual presentation of neurofibromatosis explains this otherwise very unlikely occurrence.

Adult↗
PubMed1978

Hereditary congenital hypopigmented and hyperpigmented macules.

Congenital hypomelanotic and hypermelanotic macules traced in three generations of a family suggested autosomal dominant inheritance. Some affected membbers also showed retarded growth and mental deficiency. Light microscopic findings of "splitdopa" preparations of lesional and normal skin were comparable, except that background staining of keratinocytes in dark macules was higher than in control skin. In light macules it was lower. Ultrastructurally, hypomelanotic skin showed small melanosomes (0.3 mu) that occurred in keratinocytes in melanosome complexes. Hypermelanotic skin revealed large melanosomes (0.6 mu) that were singly distributed in keratinocytes. Melanosome size in normal skin averaged 0.4 mu; distribution pattern was mixed. Melanin granules inside keratinocytes were fully melanized. Hyperpigmented, normal and hypopigmented skin of one person had histological features of black oriental and white skin. This clinical picture could well represent a new neurocutaneous syndrome different from tuberous sclerosis.

Adolescent↗
PubMed1977

Spina bifida and so-called asplenia syndrome occurring separately in sibs.

Attention is drawn to the possibility that neural-tube defects may sometimes be associted with the so-called asplenia syndrome (Ivemark syndrome). This hypothesis is based upon a family in which one child had spina bifida and hydrocephaly and another had cardiovascular and other fissural anomalies, similar to Ivemark syndrome. The family history, moreover, revealed several cases of anencephaly and/or spina bifida, both on the paternal and maternal sides.

Abnormalities, Multiple↗
PubMed1977

Cerebrotendinous cholestanolosis in relation to other cerebral xanthomatoses.

A synopsis is given of 37 reported patients with cerebrotendinous xanthomatosis; divided in 11 possible, but not proven cases of C.T.Ch (cerebrotendinous cholestanolosis), and 26 proven cases. An increased content of cholestanol in serum or tissue, was used as the main criterion. The ophthalmological and neurological signs are tabulated. Attention is drawn to the fact that cholestanol is not mentioned in the extensive literature on related diseases with possible cerebrospinal xanthomas, such as eosinophilic granulomatosis and hyperlipoproteinemia. The importance of a possible role of cholestanol in these diseases is stressed. A hypothetical form of cerebrotendinous cholesterolosis is discussed. A family with a sibship of parents and twelve children, three of which showed C.T.Ch is described. The development of the clinical picture confirmed the variable expression of the autosomal recessive disease. Two patients showed disturbances of steroid metabolism. A first contribution to the search for linkage with the H.L.A. system is presented. Cholestanol over cholesterol ratio, appeared to be independent of the type of lipoprotein. In search for therapy we found in patients with hyperlipoproteinemia type II A, that cholestyramine alone gave dangerously high blood levels of cholestanol; in combined treatment of cholestyramine with clofibrate cholestanol, levels were comparable to those of the controls. The possibilities of therapy are discussed.

Adult↗
PubMed1977

Heterogeneity in Waardenburg syndrome.

Heterogeneity of Waardenburg syndrome is demonstrated in a review of 1,285 patients from the literature and 34 previously unreported patients in five families in the Netherlands. The syndrome seems to consist of two genetically distinct entities that can be differentiated clinically: type I, Waardenburg syndrome with dystopia canthorum; and type II, Waardenburg syndrome without dystopia canthorum. Both types have an autosomal dominant mode of inheritance. The incidence of bilateral deafness in the two types of the syndrome was found in one-fourth with type I and about half of the patients with type II. This difference has important consequences for genetic counseling.

Abnormalities, Multiple↗
PubMed1976

Agenesis of the corpus callosum, infantile spasms, ocular anomalies (Aicardi's syndrome). Clinical and pathologic findings.

A patient with Aicardi's syndrome had the complete clinical picture of mental subnormality, convulsions, electroencephalographic disturbances, ocular anomalies, female sex, and agenesis of the corpus callosum. A second patient had the features of the syndrome, with microphthalmia and one patient had the features of the syndrome, with microphthalmia and one depigmented zone. In both cases and in Brihaye's case, no pineal gland was found. Since the epiphysis cerebri is important as a clock for sexual development, its absence may be incompatible with the development of a male fetus. The pathogenesis of the syndrome remains obscure. While an exogenous cause may be at work in some of the cases, the complex and stereotypical character of the symptoms plead for a hereditary origin.

Agenesis of Corpus Callosum↗
PubMedDate not supplied

Ophthalmological findings in 34 patients with Waardenburg syndrome.

In the Netherlands five families with 34 previously unreported patients with Waardenburg syndrome were traced. Twenty-three patients with the syndrome including dystopia canthorum (Type I) were ophthalmologically examined and three patients with the syndrome without dystopia canthorum (Type II) were also examined. Ten of the 15 patients with pigmentary disorders of the iris also showed a shortage of pigment in the retina. Convergent strabismus occurred in an higher percentage of the examined patients (19%) than in the normal population (4-5%).

Abnormalities, Multiple↗
PubMedDate not supplied

A family with X-chromosomal recessive congenital cataract, microphthalmia, a peculiar form of the ear and dental anomalies.

An investigation has been made in a family with X-chromosomal recessive congenital cataract, microphthalmia, a peculiar form of the ear, and dental anomalies. The carrier females show only slight symptoms. They all have lens opacities, and most of them show more symptoms. For genetic counseling it is of utmost importance to examine all family members and to re-examine the females from time to time for early lens opacificaiton, which is the most constant finding. In literature families have been described with similar clinical symptoms only a few times. We have been trying to demonstrate a linkage with the Xga locus, which might enable us to locate the mutant gene on the X-chromosome and to exclude with more certainty the carrier status. The results of this blood group specification were not informative. In future we hope to be able to demonstrate a linkage with other markers located on the X-chromosome.

Adolescent↗
PubMedDate not supplied

Opacities of the lens indicating carrier status in the oculo-cerebro-renal (Lowe) syndrome.

Three families with a total of five patients with Lowe's syndrome are described. We tried to trace female heterozygotes by ophthalmological abnormalities in order to realize prevention of this serious X-chromosomal recessive disease. Of the fourteen female relatives examined, eight showed pathological opacities of the lens, two of these being proven heterozygotes. In our opinion, in Lowe's syndrome, examination of the eyes can play an important role in the detection of heterozygotes.

Cataract↗