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)

The results of cranial magnetic resonance imaging in 76 children (aged 3 weeks--17 years) with neurometabolic or other neurodegenerative diseases are presented. The number of diagnosed diseases was 22. MR symptomatology of 11 of them is presented. The list of characteristic images includes metachromatic leukodystrophy, mucopolysaccharidoses, X-linked adrenoleukodystrophy, Leigh, Menkes and Pelizaeus-Merzbacher diseases, glutaric aciduria type I, Canavan disease, neuronal ceroid lipofuscinosis, Hallervorden-Spatz and Huntington diseases. The diagnosis of neurometabolic/neurodegenerative diseases cannot be based on MRI alone but in some of them (metachromatic leukodystrophy, adrenoleukodystrophy, Leigh and Menkes diseases, glutaric aciduria type I, Canavan and Hallervorden-Spatz diseases) MRI can strongly suggest the diagnosis.
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PMID:[MRI in the diagnosis of congenital white matter diseases and other neurodegenerative diseases]. 1178 4

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

A seven-month-old baby was admitted to a hospital emergency department after collapsing suddenly while staying with his nanny. The baby displayed classic symptoms of shaken baby syndrome, including subdural haemorrhage, cytotoxic cerebral oedema, and bilateral retinal hemorrhages. Child protection services were informed, but both the parents and the nanny denied any involvement. In the subsequent weeks, the baby developed three other episodes of new subdural bleeding and a medico-legal investigation was started into the origin of the repeated subdural bleeding. Eventually, platelet aggregation tests and electron microscopy diagnosed a delta-storage pool disease; that is, a haemostatic disorder involving dense granules of the platelets. Initial minor blunt trauma may have resulted in subdural bleeding, while subsequent retinal haemorrhage could have been facilitated by the underlying haemostatic disorder. Delta-storage pool disease should be considered as a possible mimic of abusive head trauma similar to other rare conditions such as Menkes disease and type 1 glutaric aciduria.
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PMID:Delta-storage pool disease as a mimic of abusive head trauma in a 7-month-old baby: a case report. 2423 42