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Biomedical subjects

E Wilichowski

Publications and source records attributed to E Wilichowski.

31 records · Page 2Linked to original sources
PubMed1996

Cerebral adrenoleukodystrophy (ALD) in only one of monozygotic twins with an identical ALD genotype.

We report on monozygotic twins with different clinical phenotypes of X-linked adrenoleukodystrophy. At the age of 10 years both boys were neurologically asymptomatic. The first cranial magnetic resonance examination showed normal findings in the first twin and parietooccipital demyelination in the second. The latter developed behavioral problems 9 months later, followed by visual impairment and gait ataxia. His cranial magnetic resonance image at the age of 11 years showed progressive demyelination. In contrast, neurological status and magnetic resonance images remained normal in the first twin. The same point mutation in exon 8 of the adrenoleukodystrophy gene (C2203T) was detected in both boys. All genotype examinations were consistent with the diagnosis of monozygotic twins, suggesting that some nongenetic factors may be important for different adrenoleukodystrophy phenotypes.

Adrenoleukodystrophy↗
PubMed1995

[Retinitis pigmentosa in Kearns-Sayre syndrome resulting from mutation of mitochondrial DNA "de novo"].

We present a case of Kearns-Sayre syndrome diagnosed in a boy with retinitis pigmentosa ophthalmoplegia, ancephalomyopathy and cardiomyopathy. A single large-scale mtDNA deletion at very low level in the blood sample using Southern blot analyses and multiprimer DNA amplification was detected. This case demonstrates that retinitis pigmentosa may be due to genetic mitochondrial disturbances.

Adolescent↗
PubMed1994

Deletion screening of mitochondrial DNA via multiprimer DNA amplification.

We report an application of multiprimed polymerase chain reaction (PCR) which allows a rapid, nonradioactive detection of deletions in mitochondrial DNA using EDTA-blood and muscle samples. The use of two primer sets consisting of three forward and five reverse primers, respectively, allows a competitive PCR resulting in significant amplification products only in the presence of deletion-harbouring DNA species. Under the conditions described, deletions causing Kearns-Sayre syndrome (KSS) and progressive external ophthalmoplegia (PEO) have been successfully detected. The location of the primers on mitochondrial DNA used in this study should allow identification and localization of most of the large-scale deletions (i.e. more than 1 kb) of mitochondrial DNA reported so far.

Base Sequence↗
PubMed1993

Diffuse white matter disease in three children: an encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy.

Amongst 21 children with unclassified white matter diseases three patients could be characterised by an identical clinical picture, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (MRS) findings as a probably distinct entity. Following a normal early development they later showed rapidly progressive motor symptoms (ataxia, spasticity) leading to severe handicap within one or two years after onset. Later on bulbar symptoms, optic atrophy and epileptic seizures occurred. The MRI showed a diffuse homogeneous hypodensity of the white matter almost identical to the signal of the ventricles. MRS revealed a near total absence of N-acetylaspartate, choline and creatine and an increase of lactate and glucose. One girl and one boy were siblings, indicating an autosomal recessive trait.

Aspartic Acid↗
PubMed1988

DNA analysis of ornithine transcarbamylase deficiency.

By analysing the restriction fragment length polymorphism (RFLP) detected by an ornithinetranscarbamylase (OTC) gene specific DNA probe, we followed the segregation of the defective gene in two families with OTC deficiency (X-linked disease). We were able to exclude some female family members as carriers. In one case a doubtful result obtained in a biochemical carrier detection test (by examining the renal orotic acid excretion after a protein load) could be clarified by DNA analysis. In every family with OTC deficiency, carrier detection should be biochemical with additional DNA analysis. Previous results of the biochemical carrier test should be controlled by DNA analysis, especially when "normal" results were obtained.

Amino Acid Metabolism, Inborn Errors↗
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↗
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↗
PubMedDate not supplied

[Pitfalls in the diagnosis of congenital hyperinsulinism: a case report and review of the literature].

BACKGROUND: Congenital hyperinsulinism is the most common cause for recurrent hypoglycaemia in neonates and infants. Uncontrolled hypoglycaemia leads to seizures and long-term cerebral damage. Often, the diagnosis is delayed because of nonspecific symptoms and confusing laboratory results. PATIENT: We report a patient with hyperinsulinism who was initially wrongly diagnosed as having idiopathic cerebral convulsions and treated accordingly. CONCLUSIONS: Diagnosis of congenital hyperinsulinism is based on a strong suspicion and a thorough family history. Normal random blood glucose or random insulin levels are not helpful in excluding this disease.

Diagnostic Errors↗
PubMedDate not supplied

Cerebral Pseudallescheria mycosis after near-drowning.

Scedosporium apiospermum, an anamorph of Pseudallescheria boydii, is a hyalohyphomycete which can be mistaken, histologically, for Aspergillus. S. apiospermum is clinically distinguished by resistance to most antifungals and its ability to cause invasive mycoses in immunocompetent patients. Here we present a typical case of lethal cerebral Pseudallescheria mycosis in a child after near-drowning.

Antifungal Agents↗