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Severe protein C deficiency in a newborn
C H Pegelow1, R Curless, B Bradford
1Department of Pediatrics, University of Miami School of Medicine, Miami, Florida 33101.
The American Journal of Pediatric Hematology/Oncology
|January 1, 1988
Summary
A rare Protein C deficiency caused purpura fulminans and cerebral infarction in an infant. Early diagnosis and protein replacement therapy prevented further lesions and damage.
Area of Science:
- Neonatal Medicine
- Hematology
- Genetics
Background:
- Purpura fulminans is a rare, life-threatening condition often associated with sepsis or inherited thrombophilia.
- Cerebral infarction in neonates can lead to severe neurological deficits.
Observation:
- An infant presented with a purpuric skin lesion characteristic of purpura fulminans.
- The infant experienced a cerebral infarction, initially misdiagnosed as hemorrhage due to low platelets and fibrinogen.
Findings:
- Diagnosis revealed a severe inherited Protein C deficiency as the underlying cause.
- Initiation of protein C replacement therapy halted the development of new cutaneous lesions.
Implications:
- Prompt diagnosis and treatment of Protein C deficiency in neonates are crucial.
- Early intervention with protein replacement may prevent catastrophic neurological damage and skin necrosis.