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Biomedical subjects

F Hanefeld

Publications and source records attributed to F Hanefeld.

At least 109 records · Page 6Linked to original sources
PubMed1990

Isolated and combined deficiencies of NADH dehydrogenase (complex I) in muscle tissue of children with mitochondrial myopathies.

We describe eight children with complex I deficiency, four of them with an isolated, the other four with an additional deficiency of complex IV. Clinical, chemical and morphological findings were compared from patients with isolated and combined deficiency. In both groups, the age of onset of symptoms was between the 1st day and the 4th month of life. Clinical and biochemical heterogeneity were observed. We found no correlation between residual activity of complex I in muscle, blood lactate level, and severity of clinical symptoms. Newborns presenting with severe lactic acidosis and children with later onset myopathy were seen in both groups. The group with combined complex I deficiency showed a more severe clinical course. By light microscopy ragged red fibres were only found in two patients with combined deficiency. However, by electron microscopy structural alterations of the mitochondria were observed in six out of seven muscle specimens.

Biopsy↗
PubMed1990

[Magnetic resonance tomography of laminar heterotopia].

In one baby and 2 infants who presented with psychomotor retardation and epilepsy laminar heterotopic grey matter was demonstrated via magnetic resonance imaging. Laminar heterotopia is a rare migrational disorder with bilateral symmetric ribbons of grey matter within the centrum semiovale, separated from ventricular walls and from obviously normal-sized cortex by broad layers of white matter. The heterotopic grey matter has a signal intensity which is isointense compared with that of normal cortex irrespective of image weighting. On account of this signal behaviour differentiation against other white matter diseases is easy. The knowledge of these pathognomonic findings facilitates correct diagnosis, especially during the first and the second year of life, when signal intensities of white and grey matter differ from normal findings because of the occasionally delayed myelination process. Therefore, further diagnostic procedures can be avoided and early counseling of parents is possible.

Brain↗
PubMed1990

Peripheral facial palsy in childhood--Lyme borreliosis to be suspected unless proven otherwise.

27 consecutive cases with acute peripheral facial palsy were studied for Lyme borreliosis. In 16 out of 27 children Lyme borreliosis could be diagnosed by detection of specific IgM antibodies in CSF. CSF findings allow a clear distinction according to etiology. All children with facial palsy due to Lyme borreliosis revealed lymphocytic CSF pleocytosis, whereas in cases of unknown etiology CSF was usually normal. Bilateral facial palsy occurred only in children with Lyme borreliosis. All cases with a positive history of tick bite and/or erythema migrans in the head-neck region showed ipsilateral neurological affection suggesting a direct invasion via the affected nerve by Borrelia burgdorferi.

Adolescent↗
PubMed1989

[Lyme borreliosis--the most frequent cause of acute peripheral facial paralysis in childhood].

A prospective hospital-based multicentre study in Lower Saxony allowed to investigate the frequency of acute peripheral facial palsy due to Lyme borreliosis and its clinical and laboratory characteristics. Diagnosis of Lyme Borreliosis was based on detection of IgM antibodies against Borrelia burgdorferi in serum and CSF as well, using an IgM capture ELISA. Between June 1986 and October 1987 27 consecutive cases with acute peripheral facial palsy were studied. Lyme borreliosis is the main cause of peripheral facial palsy in childhood. It was verified serologically in two thirds of the cases. All cases with a positive history for a tick bite and/or an erythema migrans in the head-neck region showed ipsilateral neurological affection suggesting a direct invasion via the affected nerve by Borrelia burgdorferi. Peripheral facial palsy due to Lyme borreliosis represents a monosymptomatic meningoradiculitis. All children with Lyme borreliosis revealed a lymphocytic CSF pleocytosis, whereas in cases of unknown etiology CSF findings usually were normal. Therefore, in any case of facial palsy with an inflammatory CSF syndrome Lyme borreliosis has to be suspected unless proven otherwise.

Adolescent↗
PubMed1988

A new chromosomal instability disorder confirmed by complementation studies.

Two sisters with a complex clinical pattern, including microcephaly, microgenia, defects of skin pigmentation, anal stenosis/atresia, and combined immunodeficiency together with spontaneous chromosomal instability and cellular hypersensitivity to X-rays and bleomycin are described. Complementation studies on heterokaryons proved that the underlying genetic defect is non-allelic with that of patients with ataxia telangiectasia (complementation groups AB-E) and the Nijmegen breakage syndrome, but identical with the case described by Conley et al. (1986).

Ataxia Telangiectasia↗
PubMed1987

Genetic linkage study between the loci for Duchenne and Becker muscular dystrophy and nine X-chromosomal DNA markers.

A set of nine polymorphic loci defined by DNA probes was studied for linkage with the disease locus in ten families with a history of Duchenne muscular dystrophy (DMD), and three families with a history of Becker muscular dystrophy (BMD). The results confirm DMD and BMD linkage to all marker loci and suggest closer linkage of several probes than hitherto detected. This will be of practical interest for risk calculations in affected families.

Alleles↗
PubMed1987

Neurologic complications of erythema-migrans-disease in childhood--clinical aspects.

Erythema-migrans-disease represents a tick-borne borreliosis with a high and widespread incidence according to first epidemiological surveys. The early symptom is a distinctive erythema migrans eventually followed by arthritis and cardiac involvement as well as neurologic complications in the form of lymphocytic meningoradiculitis Garin-Bujadoux-Bannwarth. In a one-year-period we observed 9 children who developed neurologic complications as the predominant feature of erythema-migrans-disease. Eight children suffered from a lymphocytic meningitis and/or a peripheral facial palsy and one child presented with a severe polyradiculoneuritis with complete transverse myelitis. In contrast to adults the clinical course of neurologic manifestations in children seems to be milder and shorter and not associated with the typical painful radiculitis. Acute Bell's palsy seems to be a rather common symptom, whereas other peripheral pareses of the mononeuritis multiplex type were not observed. With respect to the assumed frequency and because of the possibility of antibiotic therapy, erythema-migrans-disease should be ruled out in any case of so-called idiopathic facial palsy or aseptic meningitis, which are frequently encountered in children.

Adolescent↗
PubMed1987

The prognostic value of EEG patterns in epilepsies with infantile spasms.

By scoring EEG patterns (hypsarrhythmia = 10, absence of sleeping patterns = 10, focal epileptic discharge = 5, general-treatment or in whom infantile spasms never disappeared even during ACTH. A low voltage EEG did not have any ending ACTH therapy free of seizures showed lower scores compared to those infants relapsing after the end of ACTH treatment or in whom infantile spasms never disappeared even during ACTH. A low voltage EED did not have any prognostic significance. Using EEG scores it might be possible to separate non-responders and responders after 3 weeks of ACTH therapy, thus shortening ACTH treatment in non-responding infants.

Adrenocorticotropic Hormone↗
PubMed1987

[Mucolipidosis type II (I-cell disease) with unusually severe heart involvement].

Mucolipidosis II (I-cell disease), an autosomal recessive inborn error of mucolipid metabolism with defective transport of lysosomal enzymes is described in a young infant. Besides the typical findings as a result of the "lysosomopathy", this case presented an unusual and distinct cardiac involvement: a cardiomyopathy with dilatation of the left ventricle and signs of an endocardfibroelastosis.

Cardiomyopathy, Dilated↗
PubMed1986

Rett syndrome--search for genetic markers.

We have studied 8 girls with Rett syndrome, including 2 sisters. Their ages ranged from 1 to 26 years. The youngest patient presented with developmental delay and atypical infantile spasms. The oldest was the sister of a patient followed over a period of 13 years and showed the typical history and clinical picture of Rett syndrome. DNA from white blood cells of these patients was investigated for alterations in the OTC structural gene. As compared to normal control individuals no gross alterations occur in the OTC structural genes of patients with Rett's syndrome.

Adolescent↗
PubMed1986

Congenital muscular dystrophy with cerebral and ocular malformations (cerebro-oculo-muscular syndrome).

Two children with the features of the "Muscle, Eye and Brain (MEB) Disease" (SANTAVUORI 1977), i.e. congenital muscular dystrophy (CMD), cerebral malformations and ocular abnormalities are reported and correlations with other inherited autosomal recessive syndromes of CMD, Fukuyama type of CMD and the Walker-Warburg syndrome discussed. The association of CMD and cerebral lesions indicate an unfavourable clinical prognosis.

Abnormalities, Multiple↗
PubMed1985

The clinical pattern of the Rett syndrome.

A case of infantile spasms who developed later on many characteristics of Rett syndrome is described. Rett syndrome was also observed in two sisters. This will probably have great importance for genetic counselling.

Adolescent↗
PubMed1985

Rett syndrome: criteria for inclusion and exclusion.

In the absence of discriminatory laboratory tests for accurate diagnosis of the Rett syndrome, the authors have tried to give as precise clinical criteria as possible for use particularly for research purposes.

Child↗