Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of the pyrimidine metabolism. Deficiency of this enzyme leads to an accumulation of thymine and uracil and a deficiency of metabolites distal to the catabolic enzyme. The disorder presents with a wide clinical spectrum, ranging from asymptomatic to severe neurological manifestations, including intellectual disab...

Background: Gonadal dysgenesis, the most common cause of primary amenorrhea, is characterized by absent or underdeveloped ovaries. Although coexistence gonadal dysgenesis and Mayer-Rokitansky-Küster-Hauser (MRKH) has been reported, it still quite infrequent. To extent that authors searched, just one study reported association between Rokitansky sequence Dandy-Walker malformation. Clinical Prese...

Vascular development of the central nervous system and blood-brain barrier (BBB) induction are closely linked processes. The role of factors that promote endothelial sprouting and vascular leak, such as vascular endothelial growth factor A, are well described, but the factors that suppress angiogenic sprouting and their impact on the BBB are poorly understood. Here, we show that integrin αVβ8 a...

Midline astroglia in the cerebral cortex develop earlier than other astrocytes through mechanisms that are still unknown. We show that radial glia in dorsomedial cortex retract their apical endfeet at midneurogenesis and translocate to the overlaying pia, forming the indusium griseum. These cells require the fibroblast growth factor receptor 1 (Fgfr1) gene for their precocious somal translocati...

Intracellular membrane trafficking depends on the ordered formation and consumption of transport intermediates and requires that membranes fuse with each other in a tightly regulated and highly specific manner. Membrane anchored SNAREs assemble into SNARE complexes that bring membranes together to promote fusion. SNAP29 is a ubiquitous synaptosomal-associated SNARE protein. It interacts with se...

objective: to report a case of long-term disease free and successful pregnancy after fertility sparing staging surgery with adjuvant chemotherapy in a 46,xy gonadal dysgenetic with malignant germ cell tumor. materials and methods: a case report from a university hospital about a 19-year-old female with 46,xy karyotype ( swyer syndrome). the patient underwent bilateral gonadectomy and staging wi...

purpose: to report a case of partial agenesis of the inferior rectus muscle in a child who was presented because of ocular misalignment and a deficient depression of the right eye. patient and findings: the patient was a 4-year-old girl. preoperative ct scans confirmed the clinical diagnosis of inferior rectus agenesis. the patient underwent augmented transposition of horizontal recti muscles w...

abstract how to cite this article: akhondian j, ashrafzadeh f, beiraghi toosi m, moazen n, mohammadpoor t, karimi r. joubert syndrome in three children in a family: a case series. iran j child neurol. 2013 winter: 7(1); 39-42.   joubert  syndrome  (js)  is  a  rare  autosomal  recessive  central  nervous system malformation characterized by hypoplasia of the cerebellar vermis, hypotonia and abn...

An 11-week human fetus with megacystis, prostatic dysgenesis, and lateral displacement of the abdominal muscles is described. We suggest that a subtle outflow obstruction of the very early bladder may give rise to both bladder dilation and bladder wall dysgenesis. The bladder dilation may produce abdominal muscle dysplasia or atrophy and almost certainly produces dilation of the prostatic ureth...

The pathophysiology of thyroid dysgenesis remains unclear and, until recently, this disorder was generally regarded as sporadic. However, a small but significant proportion of familial cases have been identified (2%) through the study of subjects with congenital hypothyroidism, and more recent work has revealed an even higher proportion of familial thyroid dysgenesis in both symptomatic and asy...