engleski

Menkes disease - a case report of a male infant

Background: Menkes disease is a rare X linked lethal disease of copper metabolism, characterized by extreme hypotonia, seizures, sparse, brittle and colorless hair, brain atrophy with cerebrovascular malformations and profound deterioration during first years of life. Disease is a consequence of multiple focal involvement of the grey matter due to copper maldistribution. The defective gene is predicted to encode ATP7A, which is involved in the delivery of copper to the secreted copper enzymes and in the export of surplus copper from cells. Biochemical characteristics are low serum copper and low ceruloplasmin. The aim: We present an 18 months old male infant with cavernous hemangioma of the face and inherited PAI mutation, in whom the diagnosis of Menkes disease was established at the age of 6 months. Methods and results: Patient presented at the age of 2 months with dysmorphia, cavernous haemangioma of the left side of the head, hypotonia and seizures. Brain US showed large area of hyperechogenicity with calcifications of a left side while CT and MRI showed suspected cerebral venous angiomatosis peridurally. At the age of 4, 5 months, child had convulsive status and suspicion of ischemic insult. (CT and MRI showed possible acute ischemic infarction (venous?) of the right cerebral temporoparietal region as well as vascular anomalies of the left side of the brain depicted also on previous CT/MRI). EEG showed spike-low wave temporo-parieto-occipitally billaterally. (fig ). Seizures were stabilized by vigabatrin. Repeated MRI/MR-angiography showed large arteriovenous malformation (AVM), fistula type, arising from the anterior cerebral artery (Fig ). Genetic analysis showed heterozygosity for point mutation C677T gene for MTHFR, genotype CT and homozygosity for 5G/5G in PAI-1 gene (as his mother). Diagnosis of Menkes disease was made at the age of six months, due to dominant clinical features of hypotonia, dysmorphia and sparse, brittle and colorless hair, accompanied by low values of serum copper and ceruloplasmin. Genetic analysis is in progress. Conclusion: This is a rare case of Menkes disease with inherited PAI 1 mutation and complex brain AVM. Dysmorphia, hair changes, seizures and extreme hypotonia in infant with brain AVM is very suspect for Menkes disease. It is important to evaluate serum copper and ceruloplasmin to confirm diagnosis. Genetic analysis and counseling is important.

Menkes disease; infant; brain arteriovenous malformation

nije evidentirano