Complex Partial Seizures: Search Clues for Menkes Disease

Background: Menkes Disease (MD) is a rare X linked disease due to a defect in ATP7A protein resulting ina decrease of copper intestinal efflux and a dysfunction in the copper-dependant enzymes especially in the brain. Early diagnosis is crucial in term of response to treatment.Diagnosis can be challenging due to the subtlety of signs and may overlap with other disorders.

objective: to report a delayed diagnosis of MD with the entire course of the disease.

A 30 days old Bahrini boy was admitted for twitching of the left hemiface. Unventful pregnancy and delivery. Mother history was significant for 7 abortions.

On examination,we noted plagiocephaly, overlapping sutures, coarse facial features, loose skin in the neck, severehypotonia, the hair was shaved as this time. EEG showed right sided dysrhythmia. The 1stBrain MRI showedsulcalhyperintensity and leptomeningeal enhancement of right parieto-occipital lobe and aright small subdural?collection/hematoma and fusion of coronal and lambdoid sutures.Lumbarpunction showed high protein and lactate level.

At 3.5 months,we noted the absence of the hair in the occipital area. The other hairwas kinky and partially depigmented and exhibit the aspect of Pili torti. The repeated MRI showed adiffuse abnormal tortuosity of the cerebral arteries, resolution of the right frontal subdural hematoma, improvement ofabnormal signal of the cortex and white matter of right frontal lobe anda new involvement of the right occipital lobe cortex. Femurs x ray showed small hooks in the metaphyses of distal femurs. Serum copper and ceruleoplasmin were low. The genetic study confirmed the diagnosis and the patient was started on copper therapy for 4 months without any benefit on neurological development. at 3 years of age, the patient is severely disabled with a partial controle of his epilepsy .

Conclusion: MD should be considered in the differential diagnosis of neonatal seizures to guarantee the best prognosis.