Cerebellar malformation

Introduction Cerebellar malformation: the anterior hernia is almost closed, the bilateral frontal lobe is small, and the extra-brain gap is wide. The development of the head is obviously limited. Various causes (anoxia, infection, trauma) can also be caused at birth or after birth. Brain damage and brain atrophy, the head circumference becomes smaller and there is a phenomenon of brain development.

Cause

Various harmful factors (infection, malnutrition, poisoning, radiation) in the early pregnancy may affect the development of the fetal brain. Metabolic abnormalities, chromosomal aberrations (such as trisomy 21, trisomy 18, trisomy 13 or other abnormalities) are also often associated with small head deformities, as well as some family hereditary small head deformities. Various causes (hypoxia, infection, trauma) at birth or after birth can also cause brain damage and brain atrophy, and the head circumference becomes smaller.

an examination

Related inspection

Counter-attack brain CT examination phenylketonuria (PKU) screening CT scan

It means that the head circumference is smaller than the average number of children of the same age minus three standard deviations.

CT examination of the brain

Head CT is a convenient, rapid, safe, painless, non-invasive new examination method that clearly shows the anatomical relationship of different cross sections of the brain and the specific brain tissue structure. Therefore, the detection rate of the lesion and the accuracy of the diagnosis are greatly improved. In general, CT is better for soft tissue imaging than for soft tissue. Head CT examination is important for the diagnosis of most diseases of the brain, skull, and scalp (including trauma, tumor, inflammation, vascular disease, poisoning, degeneration, and metabolic diseases).

Counterattack

The paralyzed patient made a fist, and the upper limb was in the shoulder joint and forced the forearm to the chest. The inspector pulled his arm in the opposite direction and then suddenly let go. If the patient's forearm continues to flex hard at this time, his hand can counterattack his chest, which is a positive counterattack. Counter-attack positive has a reference for the diagnosis of cerebellar lesions.

CT scan

CT angiography is a method of performing an angiography of an organ or structure before scanning. For example, injecting iodine to 8-10 ml or injecting air 4-6 ml into the cerebral cistern for cerebral angiography and scanning, which is called cerebral angiography CT scan, can clearly show the cerebral cistern and small tumors therein.

Phenylketonuria (PKU) screening

Phenylketonuria (PKU) screening is an important check for newborn screening. Phenylketonurics (PKU) is a common amino acid metabolic disease caused by an enzyme deficiency in the phenylalanine metabolic pathway, which prevents phenylalanine from being converted into tyrosine, resulting in phenylalanine and its Ketoacid accumulates and is excreted in large quantities from the urine. The main clinical manifestations are mental retardation, seizures and hypopigmentation. The disease is autosomal recessive.

Differential diagnosis

Microcephaly is also called narrow cranial disease. Mostly due to fetal exposure, especially in early pregnancy, caused by radiation or intrauterine infection. Second, genetic factors chromosomal aberrations can also cause microcephaly in children. The main manifestation of this disease is that the weight of the brain is significantly lighter than normal, and the brain is too small or has no brain return. Physical development is obviously abnormal, and mental development is significantly slow. Some children even have convulsions, stiff limbs or swollen hands and feet. The prognosis varies according to the degree of brain hypoplasia. Microcephaly, mainly surgical treatment.

Head deformity, including narrow cranial disease and cerebral small malformation, is a common developmental disorder. Because narrow cranial disease can be treated with surgery, and small brain malformation is not a surgical indication, the differential diagnosis is extremely important. A comparative study by X-ray film and CT scan showed that the head circumference was smaller than the average number of children of the same age minus three standard deviations.

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