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Updated: Jun 27, 2026
A Rat Model of Mild Intrauterine Hypoperfusion with Microcoil Stenosis
Published on: January 7, 2018
[A moderate intrauterine growth delay with lethal outcome: neonatal Menkes disease]
B Veit-Sauca1, G Cambonie, R Salloum
1Service de néonatologie et réanimation néonatale, pédiatrie 2, hôpital Arnaud-de-Villeneuve, CHU de Montpellier, Montpellier, France.
Abstract:
We report a case of moderate intrauterine growth delay with a congenital skull fracture and subdural hematoma, related to Menkes disease. The diagnosis was established in the neonatal period and absorptiometry showed global osteopenia. This disorder has an X-linked recessive inheritance pattern. It results from an abnormality in copper transport with a reduction in the ability to incorporate copper into certain enzymes that need it as a cofactor. The clinical phenotype stems from a deficiency of these enzymes, which explains the diversity of the symptoms. It begins in the first months of life with neurological disorders (hypotonia, seizures) and bone and vascular abnormalities. Usually, death occurs before the age of 5.
Insights
Menkes disease, a rare X-linked disorder affecting copper transport, can cause severe symptoms including skull fractures and subdural hematomas in newborns. Early diagnosis is crucial for managing this severe condition.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Menkes disease is a rare X-linked recessive disorder.
- It involves impaired copper transport and subsequent enzyme deficiencies.
- This leads to a wide range of clinical manifestations.
Observation:
- A case of intrauterine growth delay with congenital skull fracture and subdural hematoma is presented.
- Diagnosis was confirmed in the neonatal period.
- Absorptiometry revealed global osteopenia.
Findings:
- The patient's symptoms were consistent with Menkes disease.
- The underlying defect is reduced copper incorporation into essential enzymes.
- Neurological, bone, and vascular abnormalities are characteristic.
Implications:
- This case highlights the severe presentation of Menkes disease in neonates.
- Understanding copper transport defects is key to diagnosing and managing this condition.
- Early identification is critical due to the typically poor prognosis, with death often occurring before age five.
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