Naslov
Lance-Adams sydrome in a patient with congenital coagulation Factor XIII deficiency and spontaneous intracerebellar and subdural hematoma: a case report

Autori
Hajnšek, Sanja ; Petelin Gadže, Željka ; Malojčić, Branko ; Mijatović, Dragana ; Bašić, Silvio ; Poljaković, Zdravka ; Pavliša, Goran ; Milat, Davorka ; Mišmaš, Antonija

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Neurologia Croatica / Hajnšek, Sanja ; Petravić, Damir ; Petelin Gadže, Željka - Zagreb, 2009, 66-67

Skup
V. hrvatski neurološki kongres s međunarodnim sudjelovanjem

Mjesto i datum
Vukovar, Hrvatska, 30.09.2009. - 04.10.2009

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Lance-Adams syndrome; Factor XIII; intracerebral hematoma

Sažetak
Lance-Adams syndrome, first described in 1963, is a condition characterized by development of chronic post-hypoxic action myoclonus due to a temporary lack or inadequate supply of oxygen to the brain. It clinically presents mainly by action myoclonus, associated with cerebellar ataxia and very mild intellectual deficit. Occurrence of Lance-Adams syndrome is rare - 122 cases have been reported in the literature so far. Pathohistologically there are structural changes - prominent astrocytosis in nuclei of the mesencephalic gray matter, loss of neurons and changes in the periaqueductal gray matter of brainstem and dorsolateral gray matter of mesencephalis tegmentum (3rd mediator system of epileptogenesis). Generator of myoclonus is the caudal part of medulla oblongata and upper part of cervical spinal cord, as well as cerebral cortex. Patients with LAS show a favourable response to sodium valproate and clonazepam. The authors present a case of a 22-old man, who was admitted at the Department of Neurology of the University Hospital Center Zagreb in January 2008, clinically presenting with headache, nausea, vomiting, mild right hemiparesis and truncal ataxia. Brain MRI revealed spontaneus intracerebellar hematoma in the region of the right middle cerebellar peduncle, vermis and left cerebellar hemisphere. Cerebral digital subtraction angiography was negative. Laboratory findings revealed probably congenital deficiency in coagulation Factor XIII. Two weeks after admission patient developed spontaneous subdural hematoma in the right frontoparietal region. In the meantime he clinically also presented with generalized action myoclonus that was, according to our beliefs, a part of chronic posthypoxic action myoclonus - Lance-Adams syndrome (secondary to intracranial hemorrhage). Electroencephalography showed polyspikes and complex of polyspikes-slow waves, synchronized with myoclonus. He had a complete resolution of myoclonus after an oral administration of sodium valproate and clonazepam, and after normalization of coagulation Factor XIII concentration following replacement therapy. His neurological status also improved. A coagulation disorder should be suspected when an unexplained intracranial hemorrhages occur. The incidence of Factor XIII deficiency is estimated at one in five million births, and is inherited in an autosomal recessive fashion. Congenital deficiency in coagulation Factor XIII can be a possible cause of unexplained intracranial hemorrhages in young adults. Ongoing factor replacement therapy is recommended to prevent further bleeding episodes. The authors indicate the importance of the correct diagnosis and proper treatment. According to our knowledge and literature data, this is a first reported case of Lance -Adams syndrome in Croatia.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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