Tomislav Gojmerac

PP04.11 – 3037: Moyamoya in children

Objective Moyamoya is progressive occlusive cerebral arteriopathy of unknown etiology, a common cause of cerebral ischemic stroke in children. It is characterized by progressive constriction (and finally, occlusion) of the terminal part of internal carotid artery and proximal parts of the middle and anterior cerebral arteries, resulting in collateral circulation in the thalamus and basal ganglia. Blood vessels, representing collateral flow in areas of the brain hypoperfusion distal to the stenosis, on the DSA look like “cigarette smoke”, which in Japanese is called “moyamoya”. The highest incidence of the disease was found in Japan. Methods In this paper, we will present nine patients, five boys and four girls, different age (2–10 years, peak 5–6 years) and with different clinical picture (transient hemiparesis in 5/9 children, convulsions in 4/9 children, headaches in 2/9 and dizziness in 1 child), admitted to our clinic. Results By processing (Transcranial color doppler, MRI/MRA and DSA) in all progressive occlusive cerebrovascular arteriopathy was proven (Moyamoya disease in 6/9 and Moyamoya syndrome in 3/9 children). Six of the nine patients underwent neurosurgical revascularization with variable outcome. One patient in young age had extremely progressive course of the disease, developing tetraparesis, epilepsy, blindness, motor aphasia and dysphagia, renal failure and death. Other patients had a better outcome: 3/6 operated have orderly development, and the two have mild cognitive deterioration. Conclusion Regardless differences between idiopathic and syndromal (associated) forms, angiographic characteristics, clinical features and outcome are the same. Unfavorable outcome have small children with bilateral ischemic infarcts and fixed neurologic deficit. The clinical presentation and neurological status at the moment of diagnosis are most important prognostic factors and predictors of long term outcome. It is important to make a diagnosis on time and prevent serious permanent neurological damage.

P17.19 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.

P110Neurodevelopmental outcome of children with intrauterine growth retardation and pathological antenatal color Doppler: a 1‐year follow‐up

Objective

P31Structural reorganization of the brain after perinatal damage – US/MRI review

Background