Dados do Trabalho

Título

Aneurismatic Subarachnoid Hemorrhage in Singlenton-Merten Syndrome: a mere coincidence?

RESUMO

Case report

A 24-year-old 12-week-pregnant woman was admitted to the emergency room presenting hypertension, a thunderclap headache, neck stiffness, and torpor. She denied trauma. She had a prior medical history of dental and orthopedic anomalies, arthritis, short stature; aortic valvulopathy, and refractory systemic arterial hypertension, in use of four classes of drugs. At the age of nineteen, she was diagnosed with Singleton-Merten Syndrome (SMS) by a molecular test, which evidenced a heterozygous for a c.992C>T p.Thr331Arg variant in the IFIH1 gene. Until this date, she had no evidence of neurologic involvement/disorders.

Her cranial computed tomography (CT) imaging showed modified Fisher IV Subarachnoid Hemorrhage (SAH), intraparenchymal hemorrhage, and calcification of bilateral basal ganglia. Arteriography showed an aneurysmal in the perimarginal artery. The aneurysm was successfully treated with coil embolization.

Discussion
SMS and Aicardi-Goutieres syndrome (AGS) are rare and multisystemic disorders caused by a gain-of-function mutation in the IFIH1 gene.
Classically, SMS presents involvement of ectoderm tissues, such as skin and teeth, cardiac involvement, and aortic calcification, but no neurological involvement was reported. On the other hand, AGS classically presents progressive encephalopathy, spastic paraplegia, and calcification of basal ganglia.
The variant in the IFIH1 gene identified in this patient was described previously in a family affected by both neurological involvement and features of SMS.
An extensive literature review was performed and no report describing intracranial aneurysm was found even when there is AGS overlapping occurrence.

Conclusion
This case demonstrates SAH in a patient with probable overlapping syndromes (SMS and AGS). Because the diseases are extremely rare, there is still a lack of evidence on whether it is a fortuitous association or intracranial aneurysms are part of the syndrome spectrum.

Palavras Chave

Singleton-Merten Syndrome; aneurysm; Subarachnoid Hemorrhage; SAH; IFH1 Gene