Biomedical subjects
Publications and source records attributed to M Hirschberger.
A mother-daughter kindred with carpal-tarsal osteolysis and evidence of renal involvement is presented. There was a similarity between the early clinical manifestations of this syndrome and those of rheumatoid arthritis. The distinction made in previous reports between the dominantly inherited form and the sporadic form with nephropathy is questioned.
Five patients with alpha-1-antitrypsin deficiency (PiZ) are reported. All these patients presented with the neonatal hepatitis syndrome and two fo them had developed cirrhosis at ages 5 and 8 years, respectively. Three patients, ages 1, 9 and 21 years, are asymptomatic. The oldest patient, 21 years of age, has only mild histologic changes in the liver. The prognosis for patients with alpha-1 antitrypsin deficiency (PiZ) presenting with neonatal hepatitis is not necessarily grave, a finding that differs from previous observations.
Acute localized enteritis is a disease of the terminal ileum in adults and children. We have observed acute enteritis confined to the jejunum in a 3 1/2 year-old girl presenting with partial upper intestinal obstruction. Surgical biopsy of the involved region of jejunum revealed acute inflammatory changes in the mucosa and severe edema of the submucosa. Resection of the edematous segment was followed by prompt and apparently permanent recovery.
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A case of failure to thrive in an infant with persistently raised urinary levels of homovanillic and vanillylmandelic acids is descirbed. No neural crest tumour was discovered at surgical exploration or at necropsy. The relation of this biochemical abnormality and failure to thrive is unclear.
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