A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave.

We report the first C-terminal missense mutation in a Duchenne muscular dystrophy patient. A G10227A transition of the dystrophin gene was found which resulted in the substitution of a highly conserved cysteine at position 3340 within the second half of the dystroglycan-binding domain. Residual amounts of 427 kDa dystrophin were detected in western blot analysis of the patient's muscle tissue, and immunohistological examination revealed weak traces of dystrophin on all fibers. Sarcolemmal staining intensity of 43 kDa beta-dystroglycan was also reduced. Mental retardation in our patient and absence of the b-wave in his electroretinogram indicate that central nervous functions of dystrophin isoforms also depend on the presence of cysteine 3340.

Intracranial germ-cell tumours--treatment results and residuals.

UNLABELLED: There is only sparse information about the development of children after successful treatment for intracranial germ-cell tumours. Between January 1981 and June 1992, 26 children with intracranial germ-cell tumours were treated in the University Hospital Hamburg-Eppendorf. We report on treatment results, long standing residuals and the "quality of life" of these patients. The long-term event-free survival was 88% for the germinomas and 43% for the malignant teratomas. Of the patients 58% had no relevant functional neurological deficits and 37% had mild impairment. Only 1 patient with metastatic disease was severely handicapped. Six patients showed neuro-endocrine dysfunction. All of them had suprasellar/hypothalamic lesions and all received successful substitution therapy. As to neuropsychological functions, 53% of the patients had no or only mild disturbances. The most affected function was speed of information processing. Of the children 69% were able to proceed with their education at the same level as before therapy. The overall self-assessment revealed good results in 75% of the patients. CONCLUSION: After surgical removal and radiation therapy long-term survival of intracranial germinomas amounts to 88%. Despite craniospinal axis radiation severe residuals are rare and a good quality of life is common. In malignant teratomas treatment regimens including chemotherapy are much less successful.

[Multilocular, giant angiomyolipoma of the kidney, adrenal gland and para-aortic lymph nodes. Case report of a 9-year-old boy with tuberous sclerosis]. / Multilokuläres, riesiges Angiomyolipom der Niere, Nebenniere und der paraaortalen Lymphknoten. Fallbericht eines 9jährigen Jungen mit tuberöser Sklerose.

The symptoms and therapy of a multicentric angiomyolipoma of the kidney, adrenal gland, paraaortic lymph nodes and renal fat tissue in a 9-year-old boy with tuberous sclerosis are reported. Angiomyolipomas are benign mesenchymal tumours that often occur together with tuberous sclerosis. Renal cell carcinoma in an angiomyolipoma is rare. Multicentricity and lymph node involvement is not a sign of malignancy or metastatic disease. Radiological characteristics in CT and plain X-ray may help in the diagnosis. Characteristically, the renal lesions are asymptomatic. Patients with incidental symptom-free angiomyolipoma should be followed. In other patients with pain in the loin, or when a solid tumour cannot be confidently excluded, conservative surgery or nephrectomy should be performed.

Transcutaneous blood gases and sleep apnea profile in healthy preterm infants during early infancy.

Studying the development of transcutaneous blood gas levels (tcpO2 and tcpCO2) and the sleep apnea profile in relation to sleep states in normal preterm infants between 36 and 52 weeks postconceptual age we found a dynamic increase in tcpO2 during regular breathing (without apnea) and a steady decrease in tcpCO2 during both regular and periodic breathing. The mean tcpO2 of periodic breathing, however, persistently remained well below the corresponding level found during regular breathing. It is suggested that in normal preterm infants there is a continued maturational adjustment of autonomic respiratory control up to 3 months post term and, furthermore, that periodic breathing may persistently be associated with a relative hypoxemia.