Biomedical subjects
Publications and source records attributed to M Albani.
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An 11-year-old Persian boy, born to consanguineous parents, manifested a progressive gait abnormality beginning at 5 years of age. A severe cerebellar disorder developed with associated dysfunction of the peripheral nervous system, but no sign of mental impairment. The sensory and motor nerve conduction velocities were greatly reduced, especially in the lower extremities. Cerebrospinal fluid protein was normal. Computed tomography and magnetic resonance imaging revealed leukoencephalopathy, especially in the cerebellum, but also in periventricular areas. The diagnosis of giant axonal neuropathy was established by biopsy of the sural nerve. The few previous histologic examinations have documented hyperplasia of the microfibrils which accumulate in the axons as well as in neurilemma, endothelial, and perineural cells. This is the first report of involvement of supraspinal portions of the central nervous system documented by postmortem examination after in vivo imaging methods corroborated the morphologic concomitants of the clinical symptoms.
We report on a family of an 8-year-old boy who suffers from bronchial asthma. In a routine screening for Alpha-1-antitrypsin-deficiency we discovered a homozygote PiZZ-type which is asymptomatic with regard to complications of the liver or a lung-emphysema. Two other members of the family show the same coincidence of bronchial asthma and Alpha-1-antitrypsin-deficiency, while two further members of the family with a heterozygote PiMZ-type are free of symptoms of the lower airways. Possible relations are discussed.
Among 62 infants admitted to our hospital after an acute and apparently threatening event which according to the parents required active intervention either by tactile stimulation, or shaking or mouth to mouth ventilation were 21 previously preterm babies, 12 of whom with additional perinatal risk factors, and 41 fullterm infants, 3 of them being subsequent siblings of a SIDS victim. More than 80% of the ALTEs occurred during presumed sleep while the remaining 20% were observed during wakefullness, mostly during or shortly after feeding. The majority was said to be found pale or blue, floppy and mostly unreactive. The parents or caretakers, however, were unable to give reliable information concerning the type of breathing i.e. whether the infants were apneic or not. On admission, 71% of the pre- and 63% of the fullterms showed abnormal signs and symptoms. A total of 14 infants had symptoms of respiratory tract infections, involving the lungs in only 6 cases. An other 10 infants developed moderate enteritis after admission only; 8 of them had stool cultures positive for rotavirus antigen. On the basis of the anamnestic and clinical data including the results of the diagnostic work-up in 14 (34%) of the fullterm and 3 (14%) of the preterm infants a so far unrecognized disorder was diagnosed which in many cases gave access to a specific therapy. If the cases of infections - not including those with only mild respiratory tract involvement often found in cases of SIDs or near miss SIDS - are included in this group their number increased to 27 (43,5%).(ABSTRACT TRUNCATED AT 250 WORDS)