Different subtypes of collateral vessels in hemorrhagic moyamoya disease with p.R4810K variant.

BACKGROUND: The aim of this study was to investigate the hemorrhgic sites and collateral vessels in hemorrhagic MMD with the p.R4810K variant. METHODS: Hemorrhage sites were classified as either anterior or posterior. Collateral vessels were classified into three subtypes according to origin: lenticulostriate anastomosis, thalamic anastomosis, and choroidal anastomosis. Hemorrhage sites and collateral vessels were compared between patients with wild-type p.R4810K variant (GG) and patients with heterozygous p.R4810K variant (GA) after 1:1 propensity score matching. RESULTS: A total of 130 hemorrhagic MMD patients were included in present study, 21 pairs (42 hemorrhagic hemispheres) were obtained after 1:1 propensity score. In GA group, 16 hemispheres (76.2%) presented anterior hemorrhage, and 5 hemispheres (23.8%) presented with posterior hemorrhage. In GG group, 13 hemispheres (61.9%) presented anterior hemorrhage, and 8 hemispheres (38.1%) presented with posterior hemorrhage. No significant differences were found in hemorrhagic sites between two matched groups (P > 0.05). Of 21 hemispheres in GA group, 10 (47.6%) exhibited lenticulostriate anastomosis, 6 (28.6%) thalamic anastomosis, and 6 (28.6%) choroidal anastomosis. Of 21 hemispheres in GG group, 3 (14.3%) exhibited lenticulostriate anastomosis, 5 (23.8%) thalamic anastomosis, and 9 (42.9%) choroidal anastomosis. There was significant difference in lenticulostriate anastomosis between two matched groups (P = 0.045). After adjustment the age, sex, and PCA involvement, we found that lenticulostriate anastomosis was associated with p.R4810K variant (OR, 5.995; 95% CI, 1.296-27.737; P = 0.022). CONCLUSION: Lenticulostriate anastomosis might be associated with p.R4810K variant. Whereas hemorrhagic sites, thalamic anastomosis, and choroidal anastomosis might not be associted withp.R4810K variant.

An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.

We describe herein an extremely severe case of Aicardi-Goutières syndrome 7 (AGS7). The female patient was the daughter of nonconsanguineous parents and developed cardiomegaly, pericardial effusion, splenomegaly, and intracranial calcification during the fetal period. Because her cardiotocogram showed a non-reassuring fetal status, she was delivered at 29 weeks and 4 days of gestation by an emergency cesarean section. After birth, she suffered from respiratory distress, pulmonary hypertension, refractory fever, recurrent thrombocytopenia, and abdominal distention caused by hepatomegaly and ascites. She showed a lenticulostriate vasculopathy, which was compatible with the fetal intracranial calcification. Despite various intensive care procedures, she died of gradually progressive pulmonary hypertension at 3 months of age. After her death, whole exome sequencing on the patient and the parents was performed and revealed a novel, de novo, heterozygous mutation in the IFIH1 gene (IFIH1:NM_022168:exon12:c.2439A > T:p.Glu813Asp). On the basis of the mutation and the clinical features, the diagnosis was AGS7. Although AGS7 has been regarded as a relatively mild subtype of Aicardi-Goutières syndrome, this case indicates that the c.2439A > T variant of AGS7 can be fatal in early infancy.

Association between X-linked lissencephaly with ambiguous genitalia syndrome and lenticulostriate vasculopathy in neonate.

X-linked lissencephaly with ambiguous genitalia syndrome (XLAG) (OMIM #3000215) is a rare, severe malformation of the brain cortex with abnormal neuronal migration caused by mutations of the ARX gene. All the reported patients with lissencephaly are males who presented with a posterior-to-anterior gradient, moderately increased thickness of the brain cortex, agenesis of corpus callosum, micropenis, and cryptorchidism. We describe the neurosonographic findings associated with the XLAG syndrome. To our knowledge, the association between XLAG and lenticulostriate vasculopathy has not been reported before.

Neuroimaging findings in hyperargininemia.

In hyperarginenemia, there is a defect in argininase enzyme, which is a catalyzer of urea cycle. Though the pathogenesis of neuronal damage in hyperargininemia is not clear, high serum and cerebrospinal fluid arginine levels can be directly related with neuronal damage. In this study, our aim was to assess brain magnetic resonance images and magnetic resonance spectroscopy (MRS) patterns of two siblings with hyperarginenemia. We acquired single voxel MRS from the white matter to show the myelination pattern and to figure out any abnormal peak of metabolite stored due to enzymatic defect. We observed mild cerebral and cerebellar atrophy and infarct at bilateral posterior putamen and insular cortex localization on conventional images and elevated choline/creatine ratios and abnormal peak at 3.8 ppm, most likely representing arginine deposition. To the best of our knowledge, this is the first article revealing the brain MRS pattern of hyperargininemia. We reported the clinical and imaging findings of patients and discuss the correlation.

Familial clustering of intracerebral hemorrhage: a prospective study in North Carolina.

Few studies have assessed the frequency of familial clustering in intracerebral hemorrhage (ICH). Of 144 patients with ICH prospectively assessed, 14 (9.8%) had a positive family history of ICH (FH+). Four pedigrees had more than two affected family members. Comparisons between FH+ and FH- probands demonstrated no significant differences in race, age, sex, ICH type or location. An underlying genetic etiology may account for familial clustering in some ICH patients.