Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022716 (Menkes)
 1,057 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Nonaccidental head injury in children (NAHI), most often due to abusive head trauma (AHT), is not uncommon and carries a high risk of mortality and morbidity. Intracranial lesions encountered are mainly subdural hematomas. Despite heterogeneous clinical presentation, symptoms are related to brain edema with intracranial hypertension and/or seizures that should prompt early diagnosis and treatment. Two main differential diagnoses are glutaric aciduria type 1 and Menkes disease, two inborn errors of metabolism that require specific diagnostic procedures and treatment. The aim of emergency treatment is to control seizures, prevent seizure recurrence, and decrease intracranial pressure. Because NAHI/AHT carries a worse prognosis than accidental head traumatism - with specific risk factors such as initial clinical status, age, aspect of initial CT scan, associated retinal hemorrhage, seizure recurrence - these children need close clinical, neurological, and radiological monitoring in neurointensive care units. It is therefore important to identify the nonaccidental origin of the injury at the earliest opportunity so that the appropriate intervention, including social evaluation and reporting suspected cases to judicial authorities, can be made to protect the child from further harm.
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PMID:Nonaccidental head injury. 2362