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Biomedical subjects

G Kurlemann

Publications and source records attributed to G Kurlemann.

At least 55 records · Page 3Linked to original sources
PubMed1996

[Solar retinopathy. Rare cause of acute loss of vision].

HISTORY AND CLINICAL FINDINGS: A 15-year-old girl was admitted to hospital for acute bilateral visual deterioration and central scotoma of two days' duration. It became known on the third day that she had looked into the sun on several occasions, for several minutes at a time. INVESTIGATIONS: In addition to the scotoma there was a visual loss to 0.05 in the right and 0.1 in the left eye. Neurological examination and imaging of the head were unremarkable. At first the visual evoked potential was prolonged (122 ms on right, 130 ms on left), but all other electrophysiological tests were normal. Fundoscopy at first showed macular oedema and pigment changes in the macula. TREATMENT AND COURSE: Local application of prednisolone (0.5 mg five times daily) gradually improved the vision and it returned to normal after 8 weeks. The initially prolonged visual evoked potential restored to normal either. No pathophysiological reason for this was found. CONCLUSION: In case of acute loss of vision in the absence of other neurological findings, external factors should be considered in the differential diagnosis.

Adolescent↗
PubMed1996

CT and MRI in a girl with late-onset ornithine transcarbamylase deficiency: case report.

We report CT and MRI findings in a girl with late-onset ornithine transcarbamylase deficiency, who presented with progressive somnolence. Both imaging methods showed signs of an acute cerebral ischaemia with new defects on follow-up. Despite an unusual clinical presentation, laboratory studies led to the diagnosis of this rare inherited metabolic defect.

Amino Acid Metabolism, Inborn Errors↗
PubMed1996

Resistance to activated protein C (APCR) in children with venous or arterial thromboembolism.

Resistance to activated protein C (APCR), in the majority of cases due to the point mutation Arg 506 Gln of the factor V gene, has emerged as the most important hereditary cause of venous thromboembolism. Using an activated thromboplastin time (aPTT) based method in the presence of APC together with a DNA technique based on the polymerase chain reaction, we investigated 37 children with venous (V: n=19) or arterial (A: n=18) thromboembolism and 196 age-matched healthy controls for the presence of this mutation. In the control group 10 children were detected to be heterozygous for the factor V Leiden mutation, indicating a prevalence of 5.1%. 10/19 children (52%) with venous thrombosis and 7/18 (38%) patients with arterial thromboembolism showed the common factor V gene mutation. Additional inherited coagulation disorders were found in 1/10 (V:10%) and 2/7 (A:28%) APC-resistant patients. Inherited coagulation disorders without APCR were diagnosed in 3/9 (V: 33%) and 2/11 (A:18%) children. Furthermore, we diagnosed exogenous risk factors in 6/10 (V: 60%) and 2/7 (A: 28%) children with thrombosis and APCR. These data are evidence that APCR combined with exogenous reasons may play an important role in the early manifestation of thromboembolism during infancy and childhood.

Adolescent↗
PubMed1995

Therapy of complex I deficiency: peripheral neuropathy during dichloroacetate therapy.

A therapeutic trial with polyvitamins and dichloroacetate (DCA) in combination with thiamine in a 13-year-old girl with complex I deficiency is reported. The polyvitamin therapy included thiamine, riboflavin, ascorbate, coenzyme Q 10 and carnitine. This therapeutic regine was used over a period of 17 months without any effect. Although DCA lowered the lactate concentration in blood and CNS--measured by magnetic resonance spectroscopy--no clinical benefit was achieved. After 20 weeks of DCA therapy a distal polyneuropathy with areflexia developed although 100 mg thiamine daily as comedication was given from the beginning of DCA therapy. Nerve conduction velocity of the peroneal nerve was not detectable, sensible evoked potentials of the tibialis posterious nerve were normal. This side-effect resolved completely within 6 months after omission of DCA. Our observation suggests a direct toxic effect of DCA only on the peripheral nervous system in our patient since several cerebral MRI and magnetic resonance spectroscopy studies showed no abnormalities. CONCLUSION. DCA lowers the lactate concentration in children with complex I deficiency of the respiratory chain in a dose of 100 mg/kg body weight without clinical benefit. Reversible peripheral polyneuropathy may develop under DCA therapy despite thiamine medication.

Adolescent↗
PubMed1995

Molybdenum-cofactor deficiency: CT and MR findings.

We describe the CT and MR findings in molybdenum-cofactor deficiency, a rare metabolic disorder which is caused by the defect of a molybdenum-containing enzyme cofactor. The CT (3 patients) and/or MR studies (3 patients) of 4 children, which became symptomatic with intractable seizures within the first days after birth and finally turned out to have molybdenum cofactor deficiency, were reviewed. All patients showed multicystic leukencephalopathy and a normal newborn pattern of myelination of the brainstem. A striking finding in some studies was an abnormal shape of the frontal horns of the dilated ventricles caused by severe volume loss of the basal ganglia, especially of the caudate nucleus, and of the corpus callosum. MRI was superior to CT in the demonstration of these lesions. In molybdenum-cofactor deficiency, which can be diagnosed by a typical laboratory pattern, CT and MR show the findings of severe perinatal brain damage. The abnormal shape of the frontal horns, although possibly not specific, may even suggest molybdenum-cofactor deficiency in newborns with intractable seizures.

Brain↗
PubMed1994

Renal involvement in tuberous sclerosis complex: a retrospective survey.

In a retrospective survey performed in Germany and Switzerland, 207 patients (ranging in age from newborn to 70 years) were evaluated in order to establish the frequency, prognosis and diagnostic awareness of kidney involvement in the tuberous sclerosis complex. Renal manifestations were observed in 48% of patients: renal cysts (33 patients), renal angiomyolipoma (AML) (30 patients), a combination of both (8 patients), renal cell carcinoma (3 patients), life-threatening events such as haemorrhage (4 patients), hypertensive crisis (2 patients) and chronic renal failure (10 patients) were also documented. The diagnostic imaging techniques of ultrasonography, intravenous urography, computed tomography and magnetic resonance imaging (MRI) are important but do not always yield definitive information. Differentiation between AML and cysts can be achieved using special MRI techniques (RARE). The potential for renal involvement should be monitored in all patients with the tuberous sclerosis complex.

Adolescent↗
PubMed1993

Lissencephaly syndromes: clinical aspects.

We report clinical and neurophysiological findings in six children (three female, three male) with type I lissencephaly and three children (all female) with type II lissencephaly (Walker-Warburg syndrome). In type I lissencephaly the diagnosis is based only on electroencephalographic (EEG) signs, whereas in type II lissencephaly the diagnosis rests on clinical signs. In type I lissencephaly the EEG typically shows high alpha-beta activity, which is not seen in type II lissencephaly.

Abnormalities, Multiple↗
PubMed1993

Neuroimaging in lissencephalies.

Based on the published literature and on our own experiences in the imaging of lissencephalies with ultrasound (US), computed tomography (CT) and magnetic resonance imaging (MRI) we propose a strategy for the use of the different methods depending on the clinical symptoms and the age of the patient. In newborns and babies with suspected lissencephaly ultrasound should be used as the first method. If there is a cortical malformation and a more thorough examination seems necessary, CT can be used in type I lissencephaly. However, due to its excellent grey-white matter contrast MRI is the best method for imaging of lissencephalies. Especially in the diagnosis of type II lissencephaly, MRI is definitely superior to CT and US, and so it should be used in all patients with Walker-Warburg syndrome and other congenital muscular dystrophies as well as in all doubtful cases. It must always be remembered that the extent of the cortical dysplasias is quite variable, as is the presence of further malformations.

Cerebral Cortex↗
PubMed1993

[Progressive facial hemiatrophy (Parry-Romberg syndrome].

Two children with progressive facial atrophia are described. In both asymmetria of the face was the reason for neuropediatric examination. Discrete neurological symptoms of this neurocutaneous syndrome were found. In patient 1 atrophia of one side of the face had developed shortly after surgical treatment of a mandibular exostose on the other side of the face. In patient 2 first signs of hemifacial atrophia were found in the newborn. Both children showed only discrete neurological symptoms. Etiology of this rare disease is still unknown, causal treatment is not possible.

Adolescent↗
PubMed1993

[Incontinentia pigmenti in a male infant].

Bloch-Sulzberger incontinentia pigmenti (IP) is a rare X-linked neuroectodermal syndrome. Over 97% of the patients are female. We report on a male baby who developed blisters in linear groups or bands shortly after birth. When the child was 3 months old the blisters were followed by verrucous papules, which cleared after 1 year leaving areas of brownish grey hyperpigmentation. In addition to the skin involvement, our patient showed central motor dysfunction on the right side of the body and also dental and ocular anomalies. Both parents were in good health. Chromosome analysis yielded a normal karyotype (46, XY). The genes for coagulation factor VIII and biglycan in the Xq28 region were not deleted. The presence of the disease in this male infant may be due to an early somatic mutation or a half-chromatid mutation. A further possibility is mosaic expression of an unstable premutation. This model offers a good explanation for the reports in the literature of transmission of the disease from mother to son.

Diagnosis, Differential↗
PubMed1993

[An unusual course of hereditary photodermatosis: De-Sanctis-Caccione syndrome?].

We report about an unusual development of a hereditary photodermatosis in an almost 11-year-old girl. At the age of 11 months the first symptom was a profuse solar inflammation of the skin. By the beginning of the third year neurological symptoms appeared with an ataxic gait, dysarthria, areflexia, asynchronism and bilateral pes cavus. All findings in the following progress demonstrated an intense progression with an intermittent aggravation during summer. Analysis of chromosomes revealed a high number of chromosomal breaks and a high SCE rate (sister chromatid exchange). Finally we diagnosed a De-Sanctis-Cacchione-syndrome.

Abnormalities, Multiple↗
PubMed1992

Characteristic EEG findings in childhood moyamoya syndrome.

Moyamoya syndrome-specific alterations of EEG recordings are only observed in children. These consist of a gradual frequency decrease and amplitude activation after hyperventilation. This is referred to as re-build-up phenomenon. Thus, a tentative diagnosis of Moyamoya syndrome in children can be based on the EEG finding. This should be radiologically confirmed by angiography.

Cerebral Angiography↗
PubMed1992

Disturbance of GABA metabolism in pyridoxine-dependent seizures.

In an infant with typical pyridoxine-dependent seizures, CSF GABA level, was determined before treatment with pyridoxine. Before onset of treatment, level of GABA in CSF was highly lowered (16 pmol/ml), pyridoxine level in serum was within normal range. Immediately after application of 80 mg pyridoxine fits stopped and the EEG was without seizure activity. The data substantiate previous findings in brain tissue from a patient with pyridoxine-dependent seizures. They are proof of a disturbed GABA metabolism in pyridoxine dependent seizures.

Brain↗