Diseases of children (pediatrics)

Malformations of the brain

Anencephaly is the absence of the cerebral hemispheres. The missing brain is sometimes replaced by an incorrectly formed cystic neural tissue, which can be nude or covered skin. Parts of the brainstem or spinal cord may be absent or be formed incorrectly. A child is born dead or dies within a few days or weeks. Treatment is supportive.

Hartnup disease

Hartnup disease is a rare disease associated with abnormal reabsorption and excretion of tryptophan and other amino acids. Symptoms include rash, central nervous system disorders, low growth, headaches, as well as fainting and collapse. The diagnosis is based on the determination of a high urinary content of tryptophan and other amino acids. Preventive treatment includes niacin or niacinamide, and in the course of the attacks, nicotinamide is prescribed.

Congenital multiple arthrogryposis

Congenital multiple arthrogryposis is characterized by multiple contractures of the joints (especially the upper limbs and neck) and amyoplasia, usually without other serious congenital anomalies. Intelligence is relatively normal.

Hydrocephalus

Hydrocephalus is an increase in the ventricles of the brain with an excessive amount of cerebrospinal fluid. Manifestations include head enlargement and brain atrophy. Increased intracranial pressure causes anxiety and bulging fontanel. The diagnosis is based on ultrasound in newborns and CT or MRI in older children. Treatment usually involves the operation of shunting the ventricles of the brain.

Cystinuria

Cystinuria is a hereditary defect of the renal tubules, in which the resorption of the amino acid of cystine is disturbed, its excretion in the urine is increased, cystine stones are formed in the urinary ways. Symptoms include the development of renal colic in connection with stone formation and, probably, infection of the urinary system or manifestations of renal failure. The diagnosis is based on the definition of excretion of cystine with urine. Treatment includes an increase in the daily volume of the fluid being drunk and urine alkalinization.

Febrile convulsions in children

Febrile convulsions develop in children younger than 6 years with an increase in body temperature above 38 ° C, the absence of a history of afebrile seizures and other possible causes. The diagnosis is clinical, it is put after excluding other possible causes. Treatment of an attack of seizures lasting less than 15 minutes is supportive.

Omphalocele

Omphalocele is the protrusion of the abdominal organs through the defect of the midline at the base of the navel. In omphaloceles, the protrusion of the organs is covered with a thin membrane and can be small (only a few loops of the intestine) or may contain most of the organs of the abdominal cavity (intestine, stomach, liver).

Congenital amputation

Congenital amputations are transverse or longitudinal limb defects associated with primary growth impairment or secondary intrauterine destruction of normal embryonic tissues.

Common arterial trunk

A common arterial trunk is formed if during prenatal development a primitive trunk is not divided by a septum into the pulmonary artery and aorta, which leads to the formation of a single large arterial trunk that is located above the large, peremembranous infundibular defect of the interventricular septum.

Atrezium tricuspid valve

Atrezium tricuspid valve - this is the absence of tricuspid valve, combined with hypoplasia of the right ventricle. Combined anomalies occur frequently, including the defect of the atrial septum, the defect of the interventricular septum, the open arterial duct and the transposition of the main vessels.

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