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Biomedical subjects

O F Brouwer

Publications and source records attributed to O F Brouwer.

At least 91 records · Page 5Linked to original sources
PubMed1991

Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization.

We have recently assigned the facioscapulohumeral muscular dystrophy (FSHD) gene to chromome 4 by linkage to the microsatellite marker Mfd 22 (locus D4S171). We now report that D4S139, a VNTR locus, is much more closely linked to FSHD. Two-point linkage analysis between FSHD and D4S139 in nine informative families showed a maximum combined lod score (Zmax) of 17.28 at a recombination fraction theta of 0.027. Multipoint linkage analysis between FSHD and the loci D4S139 and D4S171 resulted in a peak lod score of 20.21 at 2.7 cM from D4S139. Due to the small number of recombinants found with D4S139, the position of the FSHD gene relative to that of D4S139 could not be established with certainty. D4S139 was mapped to chromosome 4q35-qter by in situ hybridization, thus firmly establishing the location of the FSHD gene in the subtelomeric region of chromosome 4q. One small family yielded a negative lod score for D4S139. In the other families no significant evidence for genetic heterogeneity was obtained. Studies of additional markers and new families will improve the map of the FSHD region, reveal possible genetic heterogeneity, and allow better diagnostic reliability.

Adult↗
PubMed1991

Hearing loss in facioscapulohumeral muscular dystrophy.

The coincidence of facioscapulohumeral muscular dystrophy (FSHD) with sensorineural hearing loss and retinal abnormalities might imply genetic heterogeneity of FSHD. We performed screening audiometry in 56 patients with autosomal dominant FSHD and in 72 healthy family members, and found that the difference in hearing level between 4,000 Hz and 6,000 Hz was significantly greater in FSHD patients than in controls, independently both for the left and right ear. We conclude that this change of hearing function is part of the disease and may lead to severe hearing loss in some patients. The fact that it was present in all families is another argument against genetic heterogeneity.

Adolescent↗
PubMed1990

Location of facioscapulohumeral muscular dystrophy gene on chromosome 4.

The autosomal dominant disorder facioscapulohumeral muscular dystrophy (FSHD) is the last of the major progressive muscular dystrophies in which the gene had not been located. In linkage analysis on ten Dutch families with this disorder a lod score of 6.34 at a recombination fraction of 0.13 was obtained with the microsatellite marker Mfd 22 (D4S171). This maps the FSHD gene to chromosome 4. Only one family was uninformative for this marker. We found no evidence of genetic heterogeneity.

Adult↗
PubMed1990

Cerebral vasculopathy associated with primary varicella infection.

A previously healthy 5-year-old boy developed cerebral vasculopathy, presenting as two episodes of acute hemiparesis 3 and 9 months, respectively, after a primary varicella infection (chickenpox). This association has not been reported before, to our knowledge, although cerebral vasculopathy is a well-known complication of herpes zoster ophthalmicus. The diagnosis was based on the presence of oligoclonal varicella-specific IgG in the cerebrospinal fluid and angiographic findings. Clinical and angiographic follow-up, and serial thymidine kinase activity levels in the cerebrospinal fluid suggested a self-limiting course of the virus-induced vasculopathy. Varicella zoster virus seems to be another potential causative agent to be considered in acute childhood hemiplegia.

Brain↗
PubMed1990

Facioscapulohumeral muscular dystrophy gene in Dutch families is not linked to markers for familial adenomatous polyposis on the long arm of chromosome 5.

Cosegregation of facioscapulohumeral muscular dystrophy (FSHD) and familial adenomatous polyposis (FAP) has been described in two small families. The gene for FAP is located on the long arm of chromosome 5. We studied two large Dutch families with FSHD and found no evidence for linkage with gene markers closely linked to FAP. These results strongly suggest that the FSHD gene segregating in the Dutch families is not localized close to the FAP locus on chromosome 5.

Adenomatous Polyposis Coli↗
PubMed1990

[Minor seizures in young children: epileptic or not?].

In 80 children the clinical features of sudden changes of consciousness, motor activity and/or behavior were studied retrospectively. Epileptic and non-epileptic seizures could not be separated because of specific clinical characteristics in this population, although breath holding spells have some rather distinguishing features. The greatest problem was the lack of detailed clinical information in many cases. A group of children remains with paroxysmal events of unknown origin, but from this material the prognosis of them seems to be good. The clinician should be able to differentiate epileptic from non-epileptic seizures by taking a careful history based upon a detailed knowledge of the different kinds of both epileptic and non-epileptic attacks.

Child, Preschool↗
PubMed1990

[Angelman's happy puppet syndrome].

The Angelman ('happy puppet') syndrome is clinically characterized by severe mental retardation without any development of speech, a happy disposition with paroxysms of laughter, a stiff-atactic gait with arms in flexion and abduction, epileptic seizures, EEG-abnormalities, and some dysmorphic features like prognathism, macrosomia, tongue protrusion and brachycephaly and/or microcephaly. The genetic background is still obscure, but in some patients with this syndrome small deletions in the long arm of chromosome 15 have been found. So further investigation of this probably rather frequent syndrome seems appropriate.

Child↗
PubMed1989

Optic glioma with intraocular tumor and seeding in a child with neurofibromatosis.

We treated a 3-year-old boy with neurofibromatosis who had an optic glioma, intraocular extension with seeding, and iris tumors. On the basis of results of ultrasonography, computed tomography, magnetic resonance imaging, and fine needle aspiration, other intraocular and orbital tumors were excluded. Because of the malignant intraocular aspect, the optic nerve glioma was extirpated. Histologic examination confirmed the diagnosis of an optic nerve glioma with intraocular extension, seeding, and iris nodules. In this juvenile pilocytic astrocytoma with secondary perineural fibrous hyperplasia, several mitoses were found in the orbital and intraocular parts. In the optic canal, three small islands were found that were compatible with the diagnosis of malignant astrocytoma, grade 3. The iris nevi appeared as iris pits and not like the Lisch nodules typical of neurofibromatosis. Café au lait spots were present on the skin. The family history was positive for neurofibromatosis. The results of this study demonstrate that optic gliomas are true astrocytomas and not hamartomas, and have a continuous scale from benign to malignant differentiation.

Child, Preschool↗
PubMed1989

[Attacks of muscle weakness; a diagnostic problem?].

A girl with periodic weakness since the age of two, is presented. Not until four years after the first symptoms appeared hypokalaemic periodic paralysis was diagnosed. Some aspects of this disease are discussed.

Child↗
PubMed1989

Holoprosencephaly: variation of expression in face and brain in three sibs.

A family is described containing three sibs with holoprosencephaly. They showed a striking diversity of both cerebral and facial abnormalities. Autosomal recessive inheritance seems most likely. Because of the great variety in expression of this disorder, it is of importance for genetic counselling to examine both sibs and parents.

Abnormalities, Multiple↗
PubMed1988

Acute confusional migraine. Case report and review of literature.

The history of a girl is described who experienced two separate episodes of acute confusion with agitation. The first occurred at the age of four after a mild head injury, the second recently at the age of thirteen after prolonged physical effort. EEG's performed during both episodes showed marked diffuse slowing. Both clinical picture and EEG normalized rapidly. Clinical features and prompt recovery made the diagnosis 'acute confusional migraine' most likely. The relevant literature and importance of recognizing the syndrome are discussed

Adolescent↗
PubMed1987

Recurrence risk in the Angelman ("happy puppet") syndrome.

We report on two sibs with Angelman "happy puppet" syndrome. Out of 48 families reported in the literature, this is only the fourth family with affected sibs. A review of the literature shows a low but not negligible recurrence risk. Different explanations for this are discussed.

Child↗
PubMed1987

X-linked hydrocephalus.

We report on a family with X-linked hydrocephalus: progressive increase in head circumference (OFC) led to the diagnosis in 3 patients; however, in 5 with normal OFC, the initial diagnosis had been "nonspecific" mental retardation, until identification of relatedness between 3 macrocephalic boys suggested segregation of a major Mendelian gene. Moderate to severe hydrocephaly was present in all macrocephalic patients and in 3 of the 5 with normal OFC, but CT-scan of the brain did not show aqueductal stenosis in any of them. We stress the importance of a brain CT-scan in every male with "nonspecific" mental retardation, especially in cases with X-linked inheritance, because confirmation of X-linkage has important genetic counseling consequences.

Adolescent↗