Menkes-Syndrome: Delayed diagnosis because of misinterpretation as battered child syndrome in 2 of 3 children in 2006

Aims: Menkes-Syndrome, a genetic form of copper deficiency, is a rare neurodegenerative disorder with an incidence of 1: 100 000–250 000. In 2006 we treated 3 infants with Menkes-Syndrome in our neuropediatric rehabilitation center. Because of clinical symptoms and familiar circumstances, in two of them, the initial diagnosis has been Battered-Child-Syndrome. Patients: 3 male infants the with initial symptoms SGA, poor feeding, urogenital malformations and neurological symptoms like hypotonia, irritability and epileptic seizures in the first month of life. MRI: subdural hygroma and hematomas, atrophy, gliosis, cysts, enlarged extracerebral spaces, excessive tortuosity of the cerebral arteries. EEG: multifocal paroxysmal activity, no hypsarythmia. Accidentally the social circumstances in 2 of the 3 families have been difficult. The age at diagnosis of the Menkes-Syndrome was 6, 8 and 11 month. „Kinky hair“ (trichopoliodystrophy) not at birth but in the first months. Conclusion: The most important differential diagnosis in Shaken-Baby-Syndrome is Menkes-Syndrome. Leading symptoms are: dystrophy at birth and poor feeding early developmental delay from mild to severe seizures in the first months of life urogenital disorders in the first weeks or months of life. An early diagnosis of Menkes-Syndrome is complicated because serum copper- and coeruloplasmin-level may not be diagnostic and symptoms typical for a Battered-Child-Syndrome. As a consequence Menkes-Syndrome has to be ruled out whenever a Battered-Child-Syndrome is suspected. Early treatment with copper histidine is recommended although its beneficial effect is not fully established yet.