Search PubMed⌕ Search

Biomedical subjects

E Boltshauser

Publications and source records attributed to E Boltshauser.

At least 145 records · Page 8Linked to original sources
PubMed1986

Pterins in patients with Rett syndrome.

We have found normal concentrations of neopterin, monapterin, isoxanthopterin, biopterin and pterin in the urine of 10 patients with Rett syndrome, and normal values for total biopterin and neopterin in the blood of 4 subjects. Thus, there is no biochemical evidence of a generalized tetrahydrobiopterin deficiency in this syndrome. Since we had no opportunity so far to study cerebrospinal fluid, a defect in the metabolism of pterins in the central nervous system is not yet fully excluded.

Adolescent↗
PubMed1986

Iris hamartomata as diagnostic criterion in neurofibromatosis.

We have investigated a personal series of 90 patients with the ("classical") peripheral form of neurofibromatosis (NF) for iris hamartomata (IH). Of subjects aged 6 years or older, 97% had IH. IH were unilateral in 8 patients. IH were not found in 44 unaffected first degree relatives of patients with NF or in normal persons seen during the study period. We consider IH a reliable diagnostic criterion to be added to the list of diagnostic features. In childhood the incidence of IH exceeds that of cutaneous neurofibromas and axillary freckling.

Adolescent↗
PubMed1986

Severe neonatal centronuclear (myotubular) myopathy: an X-linked recessive disorder.

Prenatal onset and rapidly fatal course of centronuclear myopathy are described in four male newborns including two brothers. Diagnosis was established by muscle biopsy within the first week of life in two and at autopsy in the two other patients: Central nuclei, central aggregation of oxydative enzyme activity in the majority of muscle fibers and type 1 fibre hypotrophy were demonstrated. Prenatal manifestation included polyhydramnios, reduced fetal movements and breech presentation. All four newborns developed respiratory insufficiency requiring artificial ventilation immediately after birth. Severe muscular weakness and hypotonia as well as hardly elicitable grasping, deep tendon reflexes and Moro response were noticed. Additional findings included high arched palate, joint contractures, thin ribs, lung hypoplasia, abundant skin and cryptorchidism. In two families, the pedigree contains other affected males, suggesting X-linked inheritance. Seven female carriers were clinically healthy and one of them showed normal muscle histology. Fourteen previously published neonatal cases of centronuclear myopathy are reviewed and compared with our findings. This severe perinatal form of centronuclear myopathy has to be considered in male fetuses and newborns with polyhydramnios and respiratory failure due to muscular weakness or in infants who died of unexplained postnatal asphyxia. Diagnosis should be established by muscle biopsy.

Genetic Carrier Screening↗
PubMed1985

Craniosynostosis in hyper-IgE-syndrome.

A 9-year-old boy with hyperimmunoglobulin-E-syndrome (HIE) and craniosynostosis is reported. Premature fusion of the sagittal and lambdoid suture led to scaphocephaly. A partial optic atrophy without clinical signs of raised intracranial pressure was observed. This is the fourth reported case of craniosynostosis in HIE. Bone anomalies like osteoporosis are frequent findings in HIE. Apart from their clinical impact they could be related to factors involved in the pathogenesis of HIE, such as impairment of chemotaxis in tissues or monocyte differentiation.

Child↗
PubMed1985

Neonatal nemaline myopathy presenting with multiple joint contractures.

A sporadic case of the rare and most severe neonatal form of nemaline myopathy is reported. Intrauterine manifestation included reduced fetal movements and breech position with a normal amount of amniotic fluid. After delivery by Caesarian section at 34 weeks of gestation the infant boy, who was not asphyctic, failed to establish spontaneous breathing and required immediate intubation and ventilation. Marked muscular hypotonia and weakness persisted and reflexes remained absent. Hip dislocation, joint contractures, absent palmar creases, prominent lateral palatal ridges and cryptorchidism were interpreted as consequent to prenatal paralysis. The boy died after 5 h due to hyaline membrane disease and meconium aspiration. At autopsy the skeletal muscles were found to be hypoplastic. The muscle fibres contained numerous rods, a typical finding of nemaline myopathy. Nemaline myopathy should be considered in fetuses and newborns with multiple joint contractures, severe muscular weakness and respiratory insufficiency.

Arthrogryposis↗
PubMed1985

Heterogeneity of congenital motor and sensory neuropathies.

Six children suffering from a congenital motor and sensory neuropathy (CMSN) are described. Severe muscle hypotonia, areflexia and a delay of motor development are detectable in all of them. Sural nerve biopsies exhibited an almost complete absence of myelinated fibres and a correspondingly slow nerve conduction velocity (NCV) of less than 10 m/s was detectable in four patients. A few segments with hypermyelination adjacent to gross hypomyelination were seen in the fifth patient, and the NCV was 15 m/s. The sural nerve of the sixth patient showed a loss of thick myelinated nerve fibres, and his NCV was 25 m/s. These results demonstrate the histological heterogeneity of CMSN which was already detected by the NCV. The relation of our findings to the classification of HMSN by Dyck and Lambert (1968) is discussed.

Child↗
PubMed1984

Unexplained bilateral occipital calcification and reduced vision.

An eight year-old girl, investigated because of convulsions, was found to have isolated bilateral presumably cortical and subcortical calcification, reduced visual acuity and prolonged visual evoked response latencies. There were no clinical manifestations of a phakomatosis.

Calcinosis↗
PubMed1984

[Cranial computer tomography in pediatrics].

This paper deals mainly with methodical aspects (such as sedation, intravenous and intrathecal application of contrast media) and with common difficulties in interpretation of computed tomography images. The indications for cranial CT are discussed in respect probable therapeutic consequences and expected diagnostic yield. In view of the author CT is, as a rule, not required in assessing chronic headache, generalised epileptic convulsions, non-specific mental retardation and cerebral palsy.

Age Factors↗
PubMed1982

Cerebrovascular Doppler-ultrasound examination in children: principle, indication and findings.

The cerebrovascular Doppler examination (cv-Doppler) is a reliable noninvasive method for the diagnosis of obstructions in the extracranial cerebral arteries, and of major arteriovenous shunts in adult patients. The method was applied in 38 children aged 4 months to 17 years. 25 patients with symptoms of cerebrovascular disease underwent cerebral angiography. Six patients had extracranial arterial obstruction, all correctly diagnosed by Doppler. Six children had obstruction of the middle cerebral artery, four were indirectly predicted by Doppler. Four of these twelve patients had extra-intracranial bypass surgery. The patency of the anastomosis could be documented in all cases by Doppler. Ten children had arterio-venous shunts. Of these, 7 patients with an av-angioma and one patient with a carotid-cavernous-sinus fistula were diagnosed correctly by Doppler, as was the cessation of pathologically increased blood flow in the feeding and draining vessels in the 5 patients who had surgical intervention. cv-Doppler results were normal in 3 cases with normal angiography. These results demonstrate that cv-Doppler examination can be useful also in children for the diagnosis of cerebrovascular disease and noninvasive documentation of the hemodynamic effect of neurovascular surgery.

Adolescent↗
PubMed1981

Computed tomography in Pelizaeus-Merzbacher disease.

CT findings in two related males suffering from the classical X-linked recessive form of Pelizaeus-Merzbacher disease (PMD) are described. CT revealed marked cerebellar atrophy and focal areas of demyelination of cerebral white matter in a 25-year-old patient. This agrees with known neuropathological changes. However, CT was normal in the 14-year-old nephew, although his neurological symptoms were nearly as severe as his uncle's. Judging from this observation and from the scant information in the literature it seems that CT in classical PMD is normal in the first decade and is therefore not helpful in confirming the diagnosis of PMD at an early stage.

Adolescent↗
PubMed1981

Permanent flaccid paraplegia in children with thoracic spinal cord injury.

From January 1960 to March 1979 25 children with spinal cord injury were admitted to our hospital (10 newborns with birth injury to the spinal cord were excluded). Among 12 patients with complete thoracic lesions four remained permanently flaccid. These four cases who had sustained relatively minor trauma showed marked muscular atrophy of the lower limbs, areflexia, absence of anal and cremasteric reflexes, no response to plantar stimulation and no foot deformities. In contrast to children with spastic traumatic paraplegia, motor nerve conduction velocities and H-reflexes were not measurable in these flaccid patients. Myelography was performed in two, this showing myelomalacia below the level of injury. All four patients had clinically an autonomous bladder and voided by gentle manual pressure. The clinical, neurophysiological and radiological findings are consistent with a lower motor neurone lesion below the level of cord injury, resulting presumably from an extensive longitudinal cord lesion on a vascular basis. Judging from Guttmann's experience, flaccid paraplegia occurs in about 12 per cent of adults with complete thoracic cord lesions. The literature is too scant to give an estimate of this complication in children with traumatic paraplegia.

Child↗
PubMed1981

Joubert syndrome: clinical and polygraphic observations in a further case.

To our knowledge, only 10 cases of Joubert syndrome have been published so far. In this paper, we describe the clinical, radiological (computerized tomography) and polygraphic findings in an additional patient. The female presented here is the product of consanguineous parents and a sibling of a previously reported infant. In addition to the well-known episodic tachypnea in an awake state, representing the clinical hallmark of this syndrome, this child also had bouts of tachypnea while asleep. Interestingly enough, these were confined only to non-REM sleep.

Cerebellar Ataxia↗
PubMed1981

Sensory ganglioneuropathy in infantile spinal muscular atrophy. Light and electronmicroscopic findings in two cases.

Light and electronmicroscopic findings in two cases. Neuropediatrics 12: 215-31 (1981). Two cases of infantile spinal muscular atrophy (Werdnig-Hoffmann disease) are described in unrelated children deceased at 11 months (acute clinical onset at 6 months) and 2 years (onset at birth). Severe respiratory difficulties, hypotonia, muscular weakness and depressed tendon reflexes were the main clinical features. Bulbar palsy, bilateral ptosis, pale optic discs and atactic movements of the hands were observed in the child deceased at 11 months. Besides severe loss of anterior horn cells and neurogenic muscle atrophy there was evidence of an extensive sensory involvement in both cases. Shrinkage, vacuolation as well as chromatolytic changes of dorsal root ganglion cells, together with the evidence of a primary axonal damage in sural nerve biopsies were interpreted in terms of ganglioneuropathy of the primary sensory neurons. An invasion of fibrous astrocytes into dorsal roots constituted another striking anomaly in one case as well as a pronounced degeneration of cranial nerves V and VIII in the other case, a finding not hitherto reported in Werdnig-Hoffmann disease.

Brain↗