big head
Introduction
Introduction Sotos syndrome is cerebral gigantism, childhood cerebral gigantism syndrome in childhood, also known as macrorencephaly syndrome, Sotos synthesis The sign is a syndrome in which the growth of bones is too fast, the head is huge, and mental retardation occurs during infants and school-age children. The clinical manifestations of this disease have a significant increase in physical development in the neonatal period, and have long-headed giant brain, mental retardation, specific face and limb abnormalities. The symptoms showed a special face: forehead protrusion, mandibular enlargement, wide eye distance, anatomy of the eye, high zygomatic arch, and hair loss of both ankles.
Cause
Cause
(1) Causes of the disease
The cause of this disease is unknown. May be caused by pathological factors in the uterus, or damage to the function of the hypothalamic-pituitary axis. Some people think that this disease is familial and is a dominant hereditary disease. The male incidence rate is higher than that of females (4:1 or 3:1), so it is usually considered as X-linked inheritance.
(two) pathogenesis
The disease is caused by excessive secretion of certain non-endocrine growth regulators controlled by the central nervous system. In 1973, Butenandi pointed out that this symptom may be caused by the excessive reaction of peripheral tissues to growth hormone. This symptom has certain similarities and differences with Lawrence-Seip syndrome and Russell syndrome, so the three symptoms may be part of the same symptom.
Examine
an examination
Related inspection
Brain CT examination brain MRI examination brain ultrasound examination EEG examination
1.X line display
The head is large, the hands and feet are large, the jaw is protruding, and the bone age is advanced.
2. EEG
Can be abnormal, but no characteristic waveform.
3. Head CT
The ventricle enlargement, brain atrophy, hydrocephalus, and the fifth ventricle, the middle sail cavity, the back of the saddle, and the anterior humerus can also be seen.
4. Genetic analysis
The 5q35 NSD1 gene mutation exists in 70% to 90%.
Diagnosis
Differential diagnosis
Differential diagnosis of long head giant brain:
1, skull base deformity: skull base deformity refers to the deformity of the skull base including skull base, flat skull base, skull base depression.
2, craniofacial deformity: Children's craniofacial syndrome (Hallermann-Streiff syndrome) also known as HS syndrome, mandibular, eye, face, skull hypoplasia syndrome, mandibular, eye, face, skull hypoplasia, hair sparse Dyscephalia oculomandibularis-hypotrichosis syndrome, head and mandibular and ocular malformation syndrome, congenital cataract bird face deformity syndrome, congenital cataract and syndrome (composter cataracta congenita hypotrichosis syndrome), Ulllieh-Fremety-Dohna syndrome , Frangois syndrome, Audry syndrome type I, Fremery-Donhna syndrome. The symptoms are characterized by head deformity, congenital cataract, and hair thinness. This disease is often accompanied by other malformations, such as spinal deformity, osteoporosis, symmetrical gnome, mental retardation and so on.
3. Triangular head deformity: the frontal sulcus is closed; the forehead becomes smaller, and the posterior part of the skull grows excessively, which is called a triangular head deformity. Triangular head deformity is a facial symptom of pediatric craniofacial deformity syndrome.
4, oblique head deformity: oblique head deformity, also known as partial head deformity, is a unilateral coronal ossification caused by unilateral dysplasia of the frontal bone, accounting for about 4%. The bilateral growth of the skull was asymmetrical, and the frontal frontal bone was flattened and retracted. The lesion side affects the development of brain tissue, and the anterior iliac crest still exists, but it is biased to the healthy side. Premature closure of the epiphysis can be reached in the middle of the forehead. The asymmetry of the frontal bone affects the entire cranial sacral shape, the sagittal suture is biased to the disease side, and the frontal frontal bone and the parietal bone are excessively bulged. The ossification of the unilateral coronal suture can penetrate deep into the wing point and the skull base. Therefore, the oblique head deformity is almost always accompanied by facial asymmetry deformity, and it is aggravated with age. The distance between the eyes becomes smaller and the forehead becomes narrower. The auricle and the external auditory canal can also be asymmetrical, but not obvious, and the deformity of the ankle is more pronounced. Oblique head deformity combined with mental retardation, cleft palate, ocular fissure malformation, urinary system malformation and total forebrain malformation. Oblique malformation is one of the symptoms of cranial stenosis. Cranial stenosis is the premature closure of one or more skull joints leading to head deformity, increased intracranial pressure, intelligent developmental disorders, and ocular symptoms. Clinically characterized by premature closure of single or multiple skull sutures.
5, long head deformity: one of the manifestations of cranial stenosis is scapular head deformity, also known as long head deformity, caused by the early closure of the sagittal suture alone, is the most common cranial malformation in craniosynostosis, accounting for about 40% ~70%.
6, head deformity: congenital malformation of the brain can lead to a variety of brain morphological changes and different nervous system dysfunction. Macrocephaly is rare. The brain is abnormally enlarged, and it can be 1500 grams (normal 390 grams) at birth, or rapidly increase after birth. The front squat is often large and the closure is delayed.
