Biomedical subjects
Publications and source records attributed to B ter Haar.
Autosomal recessive progressive high-frequency sensorineural deafness in childhood occurred in six patients from two families. This progressive sensorineural hearing loss starts mainly in the higher frequencies. There is an abrupt decline in the audiogram that slowly decreases with the increase of the hearing loss in the lower frequencies.
Six families with a total of 34 affected persons with the syndrome of tibial aplasia and ectrodactyly are reported. The spectrum of malformations is compared to that of 99 familial cases from the literature. The full-blown syndrome consists of bilateral aplasia of tibiae and split-hand/split-foot deformity. Additional malformations may be distal hypoplasia or bifurcation of femora, hypo- or aplasia of ulnae, and minor anomalies such as aplasia of patellae, hypoplastic big toes, postaxial and intermediate polydactyly in connection with split-hand deformity, and cup-shaped ears. The mildest visible manifestation may be hypoplastic big toes, the severest is tetramonodactyly or transverse hemimelia. This disorder is autosomal dominantly inherited. The penetrance is markedly reduced.
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We describe three patients with bone changes and the facial characteristics of the Melnick-Needles syndrome (MNS). Associated anomalies (once bilateral glaucoma, twice congenital heart defect) were the reason for referral. The MNS literature also suggests a high frequency of associated anomalies, especially cardiopulmonary malformations. The distribution of the affected relatives, consanguinity of one pair of parents, and absence of similar symptoms in parents and other relatives makes autosomal recessive inheritance of the trait in this family a definite possibility. This is of great importance in genetic counseling, particularly of sporadic cases.
The neurological manifestations of idiopathic hypoparathyroidism in a father, his son, and his daughter are reported. In all three epilepsy was the first manifestation of the disease. Father and son also showed mental deterioration and striocerebellar symptoms; their CT scans revealed symmetrical calcification in the basal ganglia and dentate nuclei. The extent of this calcification increased during normocalcemia, which was produced by dihydrotachysterol therapy. This indicates that other factors than merely hypocalcemia influence the intracerebral calcifying process. Somatosensory evoked potentials (SSEP) showed an abnormal nonspecific complex, indicating dysfunction of the cortical gray matter. It is suggested that in the evaluation of idiopathic hypoparathyroidism one also must be beware of the possibility of epilepsy, mental deterioration, striocerebellar symptoms, intracerebral calcification and SSEP disturbances.
The authors describe an investigation of Adult Metachromatic Leukodystrophy in a Dutch family, of which two persons were affected. The studies of leukocyte arylsulphatase-A activity were made in 47 members of 4 generations of the same family. The propositus, a 30-year old man, showed a conspicious organic brain syndrome, that progressed in two years to a complete dementia. His leukocyte, liver and kidney arylsulphatase-A activities (ASA) were very low; leukocyte-ASA activity increased after aceto-salicylate. His brother had died at 34 years, after a progressive debelitating neuropsychiatric illness of eight years; postmortem metachromatic leukodystrophy was diagnosed. In all living family members, urine and leukocyte arylsulphatase-A activities were determined. The findings are discussed in relation to the genetics and pathogenesis of this adult form of metachromatic leukodystrophy. Allelic heterozygoty is proposed as inheritance model in this family. Suggestions for further research are made.