小儿与先天性

Craniosynostosis is a congenital condition in which one or more of the fibrous sutures joining the skull bones fuse prematurely. The early-closing suture distorts head shape and, in some cases, can restrict brain growth. It occurs in roughly 1 in 2,000-2,500 births and responds well to surgical correction when recognized early.

Spina bifida is a congenital defect of the spine and spinal cord caused by incomplete closure of the neural tube during embryonic development. In its most severe form, myelomeningocele, the spinal cord and its membranes protrude through the spinal column. Folic acid supplementation markedly reduces the risk, and with modern multidisciplinary care many patients lead independent lives.

Tethered cord syndrome is a condition in which the lower end of the spinal cord is anchored by abnormal tissue to the lower spinal canal and remains under tension. Tension increases with growth and can cause progressive neurological damage. Early diagnosis and surgical release (detethering) aim to halt progression.

Pediatric hydrocephalus is the enlargement of the brain ventricles and a rise in intracranial pressure caused by excess accumulation of cerebrospinal fluid (CSF). In infants, rapid head circumference growth is typical. Treatment usually restores CSF balance with a ventriculoperitoneal shunt or endoscopic third ventriculostomy.

Arachnoid cysts are benign, cerebrospinal fluid (CSF)-filled cystic structures that form by splitting of the arachnoid membrane around the brain or spinal cord. Most are asymptomatic and found incidentally. Only cysts that cause mass effect or symptoms require surgical treatment.

Dandy-Walker malformation is a rare congenital brain anomaly characterized by complete or partial underdevelopment of the cerebellar vermis, cystic enlargement of the fourth ventricle and expansion of the posterior fossa. Hydrocephalus accompanies a significant proportion of cases, and the course varies over a wide range.

Neural tube defects (NTDs) are congenital anomalies caused by errors in the closure of the neural tube during early embryonic development. The most common types are spina bifida, anencephaly and encephalocele. Folic acid supplementation markedly reduces the risk.

Diastematomyelia (split cord malformation) is a rare congenital anomaly in which the spinal cord is split in the sagittal plane. A bony or fibrous septum may lie between the two half-cords (hemicords). Tethered cord and vertebral anomalies frequently accompany it, and surgery is required in cases with progressive symptoms.