Diseases of children (pediatrics)

Brain malformations

Anencephaly is the absence of the cerebral hemispheres. The missing brain is sometimes replaced by malformed cystic nerve tissue, which may be exposed or covered by skin. Parts of the brainstem or spinal cord may be missing or malformed. The baby is stillborn or dies within days or weeks. Treatment is supportive.

Hartnup's disease

Hartnup disease is a rare disorder associated with abnormal reabsorption and excretion of tryptophan and other amino acids. Symptoms include rash, CNS abnormalities, short stature, headaches, and fainting and collapse. Diagnosis is based on detecting high levels of tryptophan and other amino acids in the urine. Preventive treatment includes niacin or niacinamide, and nicotinamide is given during attacks.

Congenital multiple arthrogryposis

Arthrogryposis multiplex congenita is characterized by multiple joint contractures (especially of the upper limbs and neck) and amyoplasia, usually without other major congenital anomalies. Intelligence is relatively normal.

Hydrocephalus

Hydrocephalus is enlargement of the ventricles of the brain with excess cerebrospinal fluid. Symptoms include enlargement of the head and brain atrophy. Increased intracranial pressure causes restlessness and a bulging fontanelle. Diagnosis is based on ultrasound in newborns and CT or MRI in older children. Treatment usually involves ventricular shunt surgery.

Cystinuria

Cystinuria is a hereditary defect of the renal tubules in which the resorption of the amino acid cystine is impaired, its excretion in the urine increases, and cystine stones form in the urinary tract. Symptoms include the development of renal colic due to stone formation and, possibly, urinary tract infection or manifestations of renal failure. Diagnosis is based on determining the excretion of cystine in the urine. Treatment includes increasing the daily volume of fluid consumed and alkalinization of the urine.

Febrile seizures in children

Febrile seizures develop in children under 6 years of age when the body temperature rises above 38 °C, and there is no history of afebrile seizures or other possible causes. The diagnosis is clinical and is made after excluding other possible causes. Treatment for a seizure lasting less than 15 minutes is supportive.

Omphalocele

An omphalocele is a protrusion of abdominal organs through a midline defect at the base of the umbilicus. In an omphalocele, the protrusion of organs is covered by a thin membrane and may be small (only a few loops of bowel) or may contain most of the abdominal organs (intestines, stomach, liver).

Congenital amputations

Congenital amputations are transverse or longitudinal defects of the limbs associated with primary growth disorders or secondary intrauterine destruction of normal embryonic tissues.

Common arterial trunk

The common arterial trunk is formed if, during intrauterine development, the primitive trunk is not divided by a septum into the pulmonary artery and aorta, resulting in the formation of a single large arterial trunk that is located above a large, perimembranous infundibular ventricular septal defect.

Tricuspid valve atresia

Tricuspid atresia is the absence of the tricuspid valve associated with right ventricular hypoplasia. Associated anomalies are common and include atrial septal defect, ventricular septal defect, patent ductus arteriosus, and transposition of the great vessels.