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Lethal neonatal Menkes' disease with severe vasculopathy and fractures
R P Jankov1, C F Boerkoel, J Hellmann
1Division of Neonatology, Hospital for Sick Children, Toronto, Ontario, Canada.
Abstract:
A male neonate presented with an acute onset of severe intra-abdominal bleeding, haemorrhagic shock and multiple fractures leading to death on d 27. Menkes' disease was diagnosed at autopsy and confirmed by copper accumulation studies on cultured fibroblasts. Such an early onset of fatal complications in this condition has not been previously reported. New insights into the pathogenesis of Menkes' disease provided by DNA mutation analysis and difficulties in neonatal diagnosis are discussed. Menkes' disease should be considered in male infants with pathological fractures and other signs of connective tissue disease, even in the neonatal period.
Insights
Menkes
Area of Science:
- Medical Genetics
- Pediatric Pathology
Background:
- Menkes' disease is a rare genetic disorder affecting copper metabolism.
- Typically presents later in infancy with neurological and connective tissue issues.
Observation:
- A male neonate experienced sudden, severe intra-abdominal bleeding and shock.
- The infant also presented with multiple fractures, leading to death at 27 days.
- Autopsy confirmed Menkes' disease, with fibroblast copper accumulation studies supporting the diagnosis.
Findings:
- This case represents the earliest reported onset of fatal complications in Menkes' disease.
- DNA mutation analysis offered new insights into the disease's pathogenesis.
- Neonatal diagnosis of Menkes' disease poses significant challenges.
Implications:
- Menkes' disease should be considered in neonates presenting with pathological fractures and connective tissue abnormalities.
- Early recognition is crucial for potential intervention, despite diagnostic difficulties.
- Understanding genetic mutations aids in comprehending disease mechanisms.