No abstract

No abstract

Measurement of hippocampal volume may facilitate differentiation between dementia subtypes. There was a relationship between reduced hippocampal volume and the degree of cognitive impairment.

The nasal SB may play a role in nasal physiology similar to a turbinate and help support optimal airflow. The vascular and glandular structures of the SB should be investigated in detail, and minimal invasive procedures should be performed in nasal surgery to avoid damaging essential structures.

S‐adenosylhomocysteine hydrolase deficiency is an autosomal recessive neurometabolic disorder affecting the muscles, liver, and nervous system. The disease occurs by pathogenic variants of AHCY gene encoding S‐adenosylhomocysteine hydrolase (AHCY) enzyme. This article reports a patient with presumed AHCY deficiency who was diagnosed by whole exome sequencing due to compound heterozygosity of novel p.T57I (c.170C>T) and p.V217M (c.649G>A) variants of AHCY gene. The patient had diffuse edema, coagulopathy, central nervous system abnormalities, and hypotonia. She died in 3 months due to cardiovascular collapse. Clinical findings of the present case were compatible with previously reported AHCY deficiency patients and the novel variants we found are considered to be the cause of the symptoms. This article also compiles the previous reports and expands clinical spectrum of AHCY deficiency by adding new features.