The testicular dysgenesis syndrome (TDS) hypothesis proposes that maldevelopment of the testis, irrespective of cause, leads to malfunction of the somatic (Leydig, Sertoli) cells and consequent downstream TDS disorders. Studies in rats exposed in utero to di(n-butyl) phthalate (DBP) have strongly supported the TDS concept, but so far no direct evidence has been produced that links dysgenesis pe...

Cerebral palsy is an established symptom complex that results from heterogeneous etiologies. Our understanding of the relative contribution of underlying etiologies to the occurrence of cerebral palsy is largely derived from studies lacking systematic neurologic evaluation or the application of contemporary imaging modalities. Throughout a 10-year inclusive period, the case records of all conse...

OBJECTIVES To elucidate the etiology and its relationship to the outcomes of hemiplegic cerebral palsy (HCP). PARTICIPANTS AND METHODS MR images and outcomes of 156 children with HCP born at term and older than three years were investigated in two major centers for cerebral palsy in Japan. Etiologies were classified into perinatal ischemic stroke (PIS), cerebral dysgenesis (CD), and others. P...

The purpose of this article is to discuss some common cerebral lesions that may be detected during prenatal screening: corpus callosum dysgenesis, absent septum pellucidum, localized parenchymal ischemic-hemorrhagic lesions, megacisterna magna, Blake's pouch cyst, posterior fossa arachnoid cyst and Dandy-Walker malformation. For each cerebral defect, the main imaging findings are reminded, cert...

In patients with foveal hypoplasia, anterior segment dysgenesis and an absence of systemic findings, consider a recently described syndrome of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis (FHONDA) in the differential diagnosis.

Gonadal atrophy is the most typical and dramatic manifestation of intraspecific hybrid dysgenesis syndrome leading to sterility of Drosophila melanogaster dysgenic progeny. The PM system of hybrid dysgenesis is primarily associated with germ cell degeneration during the early stages of Drosophila development at elevated temperatures. In the present study, we have defined the phase of germ cell ...

Five phenotypic females in one family had the genotype 46,XY and all had gonadal germ cell tumours. Studies of the family pedigree suggest that this form of XY gonadal dysgenesis is inherited in an X linked recessive manner. G banding of elongated metaphase chromosomes from two subjects with XY gonadal dysgenesis and a female carrier showed no aberrations of the X chromosome. The titres of H-Y ...

We report here a 12-year-old patient with unilateral cortical dysgenesis and intractable simple partial seizure in his left arm, who underwent multiple subpial transection (MST) in the right cerebral cortex including the primary motor cortex. We investigated motor cortical excitability using multimodal transcranial magnetic stimulation (TMS) before and 1 month after MST, in which surgical corti...

OBJECTIVE To describe a homogeneous subtype of periventricular nodular heterotopia (PNH) as part of a newly defined malformation complex. METHODS Observational study including review of brain MRI and clinical findings of a cohort of 50 patients with PNH in the temporo-occipital horns and trigones, mutation analysis of the FLNA gene, and anatomopathologic study of a fetal brain. RESULTS Ther...

Brain size variation among different mammals is tightly associated with different levels of cerebral function. Mechanisms that regulate the number of neurons and hence the size of the brain must be at least partially embedded within the very early phase of neocortical development, that is, embedded in proliferation/differentiation characteristics of the neural progenitor cells (NPCs) of the neo...