Crossed Congenital Hemihyperplasia: A Case Report

Abstract

Overgrowth syndromes generally present with inherent health concerns and, in some instances, an increased risk of malignant intra-abdominal tumors, such as Wilms tumor or hepatoblastoma. There are various types of hyperplasia, but the crossed type is reported to be the rarest. We present a rare, crossed type of congenital hemihyperplasia. A six-year-old girl was referred to our clinic for leg length discrepancy and was diagnosed with congenital hemihyperplasia of the right lower limb and left upper limb. The leg length discrepancy had begun to affect the patient’s gait and stair climbing. We regularly monitored her leg length and checked for functional and cosmetic problems for 24 months. However, the hyperplasia progressed and caused severe gait impairment. Leg length discrepancy at the last check-up was 30 mm. She underwent femoral lengthening surgery using a monolateral external fixator. At the 14th month follow-up, her gait and stair climbing had greatly improved, and a scanogram revealed that the leg length discrepancy had been successfully treated with a mild varus angulation of the femur. We present a rare, crossed congenital hemihyperplasia. We recommend limb lengthening surgery for treating patients with idiopathic hemihyperplasia.

Revealing the correlations between brain cortical characteristics and susceptibility genes for Alzheimer disease: a cross-sectional study

“…A variety of GWAS strategies have been proposed to reveal the correlations between imaging phenotypes and genotypes for AD (23,24). CT, one of the most sensitive imaging biomarkers of structural brain atrophy in AD, was selected as an endophenotype and was found to be strongly correlated with 4 genes (B4GALNT1, RAB44, LOC101927583, and SLC26A10) related to protein degradation, neuronal deletion, and apoptosis (25,26). Another GWAS study showed that the medial temporal circuit (MTC) could be used as another imaging phenotype and that the SNP rs34173062 in the SHARPIN gene had a genetic modifying effect on MTC atrophy (27).…”

“…Another GWAS study showed that the medial temporal circuit (MTC) could be used as another imaging phenotype and that the SNP rs34173062 in the SHARPIN gene had a genetic modifying effect on MTC atrophy (27). Recently, it was demonstrated that the SNP rs661526 modulated the expression of NFIA in the substantia nigra and the frontal cortex (FCTX), and the SNP rs10109716 modulated the expression of ST18 in the thalamus, which were significantly associated with increased CT in the left parahippocampal gyrus and left inferior frontal gyrus, respectively (28). Moreover, multiple imaging phenotypes acquired by MRI and positron emission tomography (PET), including increased cortical amyloid burden and bilateral hippocampal volume atrophy, were determined to be associated with the rs6850306 in AD and other neurodegenerative diseases (29).…”