Cockayne syndrome in siblings (Clinico-pathological study).
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Biomedical subjects
Publications and source records attributed to E Ozdirim.
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Pathological intracranial calcifications detected on computed tomography of 83 children during a six-year period were reviewed. The common causes in our series were tuberous sclerosis and intracranial tumors. Other conditions associated with calcification were Sturge-Weber syndrome, neurofibromatosis, Cockayne's syndrome, hypoparathyroidism, arteriovenous malformations, vein of Galen aneurysm, encephalomalacia, cerebral infarcts, subdural hematoma, cerebral infections, birth asphyxia and dihydropteridine reductase deficiency. In two cases (2%), calcifications were idiopathic. The distribution and location of the calcifications in these conditions are discussed.
In this report, seven children, four males and three females, between the ages of five and 16 years with megaloblastic anemia and neuropsychiatric disorders are presented. Macrocytosis was identified in peripheral blood smears in all seven patients. Serum B12 levels were markedly reduced in four and were at the lower limit of normal in three patients. The Schilling test showed that B12 deficiency was due to specific cobalamin malabsorption in five and to inadequate dietary intake in two patients. Both neurological and hematological findings returned to normal after B12 replacement. This study shows that B12 deficiency should be considered in the differential diagnosis of neuropsychiatric disorders in children, including those with nonvegetarian habits, and that such patients should undergo a thorough hematological evaluation.
Laboratory and clinical features of 28 Duchenne muscular dystrophy patients were evaluated. Positive family history was present in only two cases (7.1%). Dystrophin I-positive fibers were present in 33 percent of the cases with the deletion close to the 5' end of the gene. In the cases with deletion concerning the central part of the gene, all fibers were dystrophin I-negative. In five of the six cases with short stature, the deletion was close to the 5' end of the gene, and short stature was especially seen together with 8th and 13th exon deletion. Statistical analysis concerning the age at which the patient began to have difficulty in standing up and at which he could not walk, did not correlate with the clinical severity and deletion zone, location or extent.