Intracranial aneurysms: a report of a large pedigree.

We report on the occurrence of intracranial aneurysms in several individuals of a large French-Canadian family. Recurrence risk from 22 previously reported families (each with at least two affected first degree relatives) and the present family does not allow any firm conclusion about the mode of inheritance of the trait.

Congenital primary cutaneous osteoma: biochemical and histological studies.

Biopsies of a cutaneous osteoma and of normal-looking skin from a 1-year-old girl were studied for histological appearance and collagen biochemistry. The mineralized tissue contained a matrix similar to bone: Only type I collagen, with a hydroxylysine content (0.48%) higher than in the skin (0.

Brief clinical report: renal hypodysplasia and unilateral ovarian agenesis in the penta-X syndrome.

We report the case of a 3-year-old penta-X female with two previously undescribed anomalies: hypoplastic kidney and absent ipsilateral ovary. The gross and histologic structure of the contralateral ovary was normal, suggesting that adults with this syndrome may be fertile.

Replacement therapy for inherited enzyme deficiency: liver orthotopic transplantation in Niemann-Pick disease type A.

Liver homotransplantation was attempted as replacement therapy in a 2-year-old patient with near total absence of sphingomyelinase activity of Niemann-Pick disease type A. Satisfactory function of the graft was observed until the death of the recipient from respiratory complication 2 years after transplantation. The clinical stigmata of the disease became less severe during the first 6 months after transplantation, with no further improvement thereafter.