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[Menkes syndrome with excessive skeletal changes]
Rofo : Fortschritte Auf Dem Gebiete Der Rontgenstrahlen Und Der Nuklearmedizin
|September 1, 1985
Insights
Menkes'kinky hair disease, a rare connective tissue disorder, presented in an infant with multiple fractures and unusual bone thickening. This condition, caused by decreased copper bioavailability, ultimately proved fatal.
Area of Science:
- Pediatric Radiology
- Medical Genetics
- Connective Tissue Disorders
Background:
- Infantile fractures can mimic non-accidental trauma.
- Menkes'kinky hair disease is a rare genetic disorder affecting copper metabolism.
Observation:
- An infant presented with multiple fractures at 10 weeks of age.
- Marked cortical thickening was noted in numerous bones, initially suggesting child abuse.
- Atypical bone remodeling patterns were observed.
Findings:
- The observed bone abnormalities, including excessive remodeling, were characteristic of Menkes'kinky hair disease.
- This diagnosis was confirmed, highlighting the disease's impact on bone development.
- Menkes'kinky hair disease is linked to impaired copper bioavailability.
Implications:
- This case underscores the importance of considering rare genetic disorders in the differential diagnosis of infantile fractures.
- Recognizing unusual bone remodeling is crucial for accurate diagnosis of Menkes'kinky hair disease.
- Understanding copper's role in connective tissue health is vital for managing related disorders.
Abstract:
An infant was seen for multiple fractures at the age of 10 weeks. He developed marked cortical thickening of many bones, which raised the suspicion of a battered child syndrome. Unusual progression of bone thickening and hitherto undescribed excessive bone remodeling led to the diagnosis of Menkes'kinky hair disease, a disorder of the connective tissue caused by a decreased copper bioavailability, to which disease the infant finally succumbed.