DiGeorge syndrome - a component of the 22q11 deletion syndrome - causes a disturbance in cervical neural crest migration that results in parathyroid hypoplasia. Patients can develop hypocalcemia-induced seizures. Spina bifida is caused by failure of neurulation, including a disturbance in the adhesion processes at the neurula stage. Spina bifida has been reported as a risk factor for epilepsy. ...

OBJECTIVE Prenatal diagnosis of open spina bifida is carried out by ultrasound examination in the second trimester of pregnancy. The diagnosis is suspected by the presence of a 'lemon-shaped' head and a 'banana-shaped' cerebellum, thought to be consequences of caudal displacement of the hindbrain. The aim of the study was to determine whether in fetuses with spina bifida this displacement of th...

OBJECTIVE To examine changes in three domains of condition-related knowledge among youth with spina bifida and to examine the utility of youth cognitive ability level and condition severity as predictors of knowledge change. METHODS Seventy preadolescents with spina bifida completed a 12-item questionnaire assessing knowledge of spina bifida at three time points during middle childhood and ea...

Spina bifida aperta are complex congenital malformations resulting from failure of fusion in the spinal neural tube during embryogenesis. Despite surgical repair of the defect, most patients who survive with spina bifida aperta have a multiple system handicap due to neuron deficiency of the defective spinal cord. Tissue engineering has emerged as a novel treatment for replacement of lost tissue...

An adolescent girl, a known case of spina bifida with systemic lupus, presented with bluish discolouration of three toes of the right foot. She had thrombosis of bilateral popliteal arteries. She underwent percutaneous transluminal angioplasty (PTA) of both legs and Chopart amputation of the right foot. Systemic lupus erythematosus (SLE) occurring in a patient with spina bifida has not been pre...

Causal heterogeneity of anencephaly and spina bifida has been demonstrated; in rare families the neural tube defect may be caused by a single gene. We report a family in which four cases of anencephaly or spina bifida may represent X-linked inheritance.

Nicolai Tulp, the physician whose features are immortalized in Rembrandt's painting 'The School of Anatomy', first suggested the name 'spina bifida' (Tulpius, 1652), though the condition was known to Hippocrates, and the mediaeval Arab physicians are said (Denuce, 1906) to have specifically recognized the absence of the spinous processes in the affected area. Ruysch (1691) distinguished between...

PURPOSE Care of children with spina bifida has significantly advanced in the last half century, resulting in gains in longevity and quality of life for affected children and caregivers. Bladder dysfunction is the norm in patients with spina bifida and may result in infection, renal scarring and chronic kidney disease. However, the optimal urological management for spina bifida related bladder d...