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Biomedical subjects

J Haegeman

Publications and source records attributed to J Haegeman.

12 recordsLinked to original sources

[The world tour of peripheral vertigo].

This world tour of the peripheral vertigo is described like a consultation and brings the reader to an approach of the diagnosis the most precise as it is possible. The primordial interest of a complete and concise anamnesis permits us to obtain a diagnostic in 80% of cases. Then, we detail the neurological tests and we choice the adequate and complementary tests. In the end, when we have established the final diagnosis, a judicious treatment can be applied.

Humans↗

Costello syndrome: a postnatal growth retardation syndrome with distinct phenotype.

In this report we describe two non-related patients, a 12-year-old girl and 3 6/12-year-old boy, with Costello syndrome. Costello syndrome is a true MCA/MR syndrome with severe postnatal growth retardation as the first clinical sign. Characteristic facial changes, loose, hyperelastic skin and papillomata become progressively more evident with age. Patients with Costello syndrome present a pleasant, happy nature and are mildly to moderately mentally retarded.

Abnormalities, Multiple↗

Macrocephaly and mental retardation. The unique association with short stature, spastic paraplegia and CNS malformations.

During a systematic clinical genetic survey of the institutionalized moderately to severely mentally retarded we had the occasion to examine two nonrelated adult patients who presented a similar MCA/MR syndrome: 1) macrocephaly (OFC > 60 cm) with high and broad forehead and contrasting relative midfacial hypoplasia; 2) short stature with small and broad hands and feet; 3) neurological symptoms of a variable degree of spastic paraplegia and severe CNS malformations on CT-scan i.e. internal hydrocephalus and Dandy-Walker variant malformation.

Adult↗

A genetic-diagnostic survey in an institutionalized population of 158 mentally retarded patients. The Viaene experience.

In this report we summarize the results of a genetic-diagnostic survey of an institutionalized population of 158 severely mentally retarded patients. The etiological study was based on a clinical genetic approach with special attention to dysmorphology and neurological findings. In 72 patients a constitutional cause of their mental impairment was found: a chromosomal abnormality in 21, a Mendelian disorder in 36 (autosomal recessive disorder: 23; autosomal dominant: 12; and X-linked recessive: 1), a MCA/MR syndrome in 9, and a CNS malformation in 6 patients. In 33 patients, a pre- or perinatal cause was found, and 20 patients presented a pre- or perinatal infection of the CNS. Finally, no etiological diagnosis was detected in 28 patients; 6 of them presented a hitherto unclassifiable type of familial mental retardation.

Adolescent↗

Mental retardation, macrocephaly, short stature and craniofacial dysmorphism in three sisters. A new entity among the mental retardation-macrocephaly syndromes?

In this report we describe a true macrocephaly-mental retardation syndrome in three sisters. In addition, they present a distinct craniofacial dysmorphism with coarse facial features. Further family investigation revealed a similar macrocephaly in the mother and her father, suggesting autosomal dominant transmission of this familial macrocephaly. Present knowledge of the nosology of the mental retardation-macrocephaly association is reviewed and discussed.

Adult↗

[A rare recurrent sinus tumor].

The schneiderian papilloma, rare tumor of the nose and paranasal sinuses, have a marked predominance of men in the fourth or fifth decade of life. The most common symptom is an unilateral progressive nasal obstruction. Abnormal tissue in the nasal fossa is found in all cases. A capacity to destroy, a tendency to recur and an association with malignancy characterise this tumor with an obscure aetiology. Radical surgery is advocated as a treatment of choice, an adequate method is the lateral rhinotomy.

Aged↗

Oncocytic papilloma of the maxillary sinus. A rare and recurrent tumor.

A case of oncocytic schneiderian papilloma of the maxillary sinus arising in a 76 year old man is reported. This particular type of papilloma is rare and is often misdiagnosed for some benign or even malignant lesions. Microscopic features are shown and ultrastructural data are emphasized. The clinical course of this lesion is briefly reviewed with the treatment.

Aged↗

Partial monosomy of the short arm of chromosome 9: a distinct clinical entity.

A 10-year-old girl with partial deletion of the short arm of chromosome 9 is reported; karyotype: 46,XX,del(9)(p22). This syndrome results in a distinctive craniofacial dysmorphism with trigonocephaly and contrasting midfacial hypoplasia. Partial monosomy 9p was the result of a paternal de novo germinal deletion in this case.

Child↗

A retrospective evaluation of pipamperone (Dipiperon) in the treatment of behavioural deviations in severely mentally handicapped.

Nineteen severely mentally handicapped female patients (15-24 years), whose IQ was between less than 30 to 36, were treated with pipamperone (Dipiperon) because of behavioral disturbances. The dose varied from 40 to 180 mg/day spread over one to three intakes. The duration of treatment ranged between two and ten months. The therapeutic effect was evaluated by means of a 12-item rating-scale. A statistically significant improvement was obtained for nine of the 12 items. Overall improvement was very good in two, good in ten, moderate in five, and insufficient in two patients. Serious side-effects were not observed.

Adolescent↗