Differences between the Hoyeraal-Hreidarsson syndrome and an autosomal recessive congenital intrauterine infection-like syndrome.
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Cerebellum↗
Biomedical subjects
C M Aalfs
Publications and source records attributed to C M Aalfs.
[Wilson's disease; diagnosis with the aid of magnetic resonance tomography].
In a 21-year-old woman with a smaller and sloppy handwriting, drooling especially when stooping, sporadic choking, clumsiness, and frequent stumbling, Wilson's disease was diagnosed. The medical history disclosed a short period of haemolytic anaemia with transient hepatic failure, and irregular menstruation periods with infertility. On examination there were no signs of liver or spleen enlargement. She was slow, had an expressionless face and mild dysarthria, and slight impairment of the coordination of the limbs. Magnetic resonance imaging of the brain showed bilateral hyperintensive lesions of the basal ganglia on T2W images. Zinc therapy induced a good biochemical response and there was also some clinical improvement. Linkage analysis within the family identified one other asymptomatic homozygotically affected sister. A diagnostic delay occurs frequently due to relative unfamiliarity with this rare disease and due to its variable clinical expression.
Adult↗
The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia.
We report on a boy with prenatal growth retardation, progressive pancytopenia, cerebellar hypoplasia, microcephaly and developmental delay. Despite extensive laboratory investigations, no specific cause for the abnormalities could be revealed. Strikingly similar features have been described in two brothers by Hoyeraal et al. [5] in 1970 and in one boy by Hreidarsson et al. [6] in 1988. The features seem to be part of a separate entity, for which the eponym "Hoyeraal-Hreidarsson syndrome" may be used. An autosomal or X-linked recessive mode of inheritance seems likely.
Abnormalities, Multiple↗
Further delineation of the partial proximal trisomy 10q syndrome.
We report on a girl with a partial duplication of the proximal part of the long arm of chromosome 10, confirmed by chromosome painting. The phenotypic findings are compared to those found in six other published cases with the same karyotype. Recognition of a specific partial proximal trisomy 10q syndrome seems to be possible, consisting of mild to moderate developmental delay, postnatal growth retardation, microcephaly, prominent forehead, small and deep set eyes, epicanthus, upturned nose, bow shaped mouth, micrognathia, thick and flat helices of the ears, and long, slender limbs. Severe ocular malformations are possibly part of the syndrome. No major phenotypic differences were seen between patients with a duplication of segment 10q11-->10q22 and patients with a duplication of 10q21-->10q22.
Adenosine Kinase↗
Posterior tibial nerve somatosensory evoked potentials in slowly progressive spastic paraplegia: a comparative study with clinical signs.
Clinical and neurophysiological examinations were performed on seven patients with hereditary spastic paraplegia and on eight patients with primary lateral sclerosis. The results were compared with those obtained from a group of 39 control subjects. Prolonged latency times and decreased amplitudes of the posterior tibial nerve (PTN) somatosensory evoked potentials (SEPs) were found in the majority of the patients. The SEP changes occurred without sensory impairment or with loss of vibration sense only. There was no significant relation between the PTN SEP abnormalities and the severity of pyramidal signs for the whole patient group, nor longitudinally for the individual subjects. Analyses of PTN SEPs in patients suffering from slowly progressive spastic paraplegia (SP), therefore, seem to be a method to indicate a feature of spinal cord dysfunction that is not related to the severity of clinical signs. Considering the neuropathology of the spinal cord in SP patients, we furthermore argue that the ascending spinal pathway involved in conducting impulses for PTN SEPs probably uses other routes as well as the funiculus gracilis.
Adolescent↗
Posterior tibial and sural nerve somatosensory evoked potentials: a study in spastic paraparesis and spinal cord lesions.
In two groups of patients posterior tibial nerve (PTN) and sural nerve (SN) somatosensory evoked potentials (SEPs) were compared to each other and related to classified neurological signs. Group A consisted of 7 patients with hereditary spastic paraparesis (HSP) and 8 with primary lateral sclerosis (PLS), with solely or primarily motor deficits. Group B consisted of 12 patients with different spinal cord diseases causing variable mixed sensory and motor impairments. Normal values were derived from 39 controls. A clear trend towards more frequently prolonged PTN SEP than SN SEP latencies was found in both groups and appears to make PTN SEPs more useful for clinical application than SN SEPs. No significant differences were found in SEP abnormalities when the two patient groups were compared to each other. No relationships were found between SEP abnormalities and spasticity, weakness or any single sensory modality, making the two SEPs questionable as a quantitative test for neurological deficits in our patients.
Adolescent↗
Somatosensory evoked potentials, sensory nerve potentials and sensory nerve conduction in hereditary motor and sensory neuropathy type I.
Thirty-nine patients from six families with hereditary motor and sensory neuropathy type I and control subjects were included in this study. A neurological deficit score (NDS) was derived from a neurological examination and compared with neurophysiological test findings. Further, sensory nerve conduction velocities (SNCV) were compared with the motor nerve conduction velocities (MNCV). Five patients whom peaks of N11/N13 complex and N20 of the median nerve sensory evoked potential (SEP) could be recorded showed normal interpeak latency. The interpeak separation P14-N20 measured in six patients was normal. These findings point to the normal function of the central conductive pathways. Erb and cervical potentials of the median nerve SEP could be recorded in 10% and 12% of the patients, respectively. In contrast, about half of the patients showed a scalp N20, while in most of them no SNCV could be measured. In six patients far-field potential P14 of the median nerve SEP was the first detectable potential. Therefore, we argue in view of the anatomical structure of the thalamus, that the first generator for synchronizing and amplification of impulses is probably located in the thalamus. A third of the patients had a cortical sural nerve SEP, while no sural nerve potentials could be recorded. No association was found between the SEP findings and the NDS. There was an inverse correlation between median SNCV and the NDS, but no relationship between the former and sensory deficit alone. In 40% of the patients median SNCV and in 13% sural SNCV could be recorded and considered to be severely decreased.(ABSTRACT TRUNCATED AT 250 WORDS)
Adolescent↗