1217 NEONATAL PROGERIA IN SIBLINGS

Abstract

Progeria (Hutchinson-Gilford Syndrome) is classified among the very rare childhood diseases (1:8,000,000 births according to De-Busk's estimation). After 60 cases had been documented in medical literature by DeBusk in 1972, 5 more cases have been reported. There are only 4 reports in siblings up to this date, only 2 reports (4 cases) that clinical pictures appeared at birth and only 1 of these reports presented as a neonatal progeria in siblings without consanguinity in the family. The rarity of the disease prompted us to report our patient - a 1500 gm white female infant born at 35 wks. gestation with the phenotype typical of progeria patients described in literature along with the radiographic evidence of clavicles resorption at birth. The 1st pregnancy 8 yrs. ago also terminated at 35 wks., 1690 gm male with the same features as our patient, with evidence of clavicles and humeri changes in x-ray at l mo. Our patient developed natal tooth at the lower incisor area on the 5th day (also reported in 4 cases with typical phenotype at birth). She died at 7 days of age from heart failure and sepsis. (Sibling died at 6 wks. of age from congestive heart failure). There are 2 normal children. No consanguinity in the family. Our patient had the lowest birth weight reported. Typical phenotype and x-ray changes at birth, early dentition and early death may represent a new “neonatal progeroid syndrome” or just represent the most severe form of progeria.