CLINICAL CASE OF PARTIAL GIGANTISM OF THE LEFT LIMB IN A 5-YEAR-OLD GIRL

Introduction. Partial gigantism (PG) is rare (less than 1 case per 1 million population) and is characterized by enlargement of any part of the body at the expense of soft and bone tissue. PG is most often described as a congenital anomaly [1].

The cause of development is a gene mutation with changes in the ATK1 gene, which is normally inactive. In people with partial gigantism, the ATK1 gene produces the ATK protein, which stimulates the growth of cells in individual tissues, which is manifested by partial hypertrophy of the skin, bones and blood vessels to atypical sizes [2].

Other reasons were previously considered, such as:

mechanical - it was assumed that at the prenatal stage there is compression of one or another part of the body by the umbilical cord, which after birth begins to grow pathologically;

embryonic - impaired formation of organs and tissues in the prenatal period subsequently becomes the cause of their abnormal growth;

neurotrophic - due to damage to sympathetic fibers, a failure may occur in the growth program of dense and loose connective tissue.

But so far they have not been confirmed [3].

Let's consider a case of this disease, discovered accidentally in a girl aged 7 months by a pediatrician. Until this moment, the parents had not made any complaints.

Purpose of the work: to present a clinical case of partial gigantism of the left limbs in a 5-year-old girl.

Materials and methods of research. A clinical case is presented. An analysis of the medical documentation of patient T was carried out.

Research results. Life history: Child from 4th pregnancy, 2 term births at 38 weeks. The pregnancy proceeded against the background of the threat of interruption of 1-2 halves. Delivery by ACS. Birth weight 2410 g. Condition at birth is satisfactory. On the Apgar scale 7-8 points. Discharged on the 10th day.

Diagnosis: Basic: Perinatal hypoxic-ischemic damage to the central nervous system of mild severity, acute period, central nervous system depression syndrome.

Associated: IUGR, degree 1, symmetrical shape. Morphofunctional immaturity 34 weeks.

History of the disease: A 5-year-old girl has been considered sick since November 2018, when an examination by a pediatrician at home for ARVI revealed disproportionality of the limbs (the volume of the left shoulder is 1.5 cm larger than the right shoulder; the volume of the left hip is 4 cm larger than the right), asymmetry heads.

The girl was consulted by an orthopedist, endocrinologist, and surgeons from various medical institutions, including the Russian Children's Clinical Hospital. A diagnosis was made: Partial gigantism. A differential was carried out. diagnosis with lymphostasis of the left lower limb.

The neurologist made a diagnosis: Consequences of perinatal damage to the central nervous system, late recovery period, movement disorder syndrome.

The geneticist pointed out the connection between hemihypertrophy and early organic damage to the central nervous system; no genetic disorders were identified.

Laboratory and instrumental research:

Ultrasound of the brain dated November 21, 2018 - slight asymmetry in the size of the lateral ventricles. Tendency to dilatation of the right lateral ventricle.

CT scan of soft tissues with contrast revealed CT signs of hemihypertrophy on the left.

Cytogenetic study (karyotype): 46 chromosomes (female karyotype, normal).

The level of somatotropic hormone in the blood is increased - 10.4 ng/ml (N at the age of 1 to 14 years: 0.8 - 7.7 ng/ml), other hormones are normal.

CT protocol dated 08/04/2020: CT signs of asymmetry in the size and volume of the soft tissues of the lower extremities, enlargement on the left, no focal changes and space-occupying formations of the thoracic cavity, abdominal cavity, retroperitoneal space, or small pelvis were detected.

Ultrasound of the abdominal cavity and retroperitoneal space: hepatomegaly, without structural changes in the parenchyma. The rest of the organs are unchanged.

Spiral CT of the head 07/05/2019: CT signs of moderate uneven expansion of the external cerebrospinal fluid spaces of the frontal lobes, interhemispheric fissure, Sylvian fissures. Local expansion of the subarachnoid space of the cerebellum.

The patient was treated at the Pirogov Russian National Research Medical University in the microsurgical department and in the surgical traumatology and orthopedic department.

The diagnosis was made: Left-sided partial gigantism, elongation of the left lower limb.

On September 15, 2020, an operation was performed to block the growth zones of the left knee joint. Almost a year later, she underwent inpatient treatment in the same place, on 08/05/2021, removal of left hip blockers, hemiepiphysiodesis.

Another year and 2 months later, she was hospitalized in the department of traumatology and orthopedics of the Russian Children's Clinical Hospital. On October 14, 2022, growth plate blockers were removed, the postoperative period was calm.

After removal of the growth plate blockers, an aneurysmal bone cyst formed in the lower third of the left femur and upper third of the left tibia. Dystrophic changes in the lower third of the left thigh and the upper third of the bones of the left leg.

She was again hospitalized at the Russian Children's Clinical Hospital. The bone cyst was punctured and washed.

Currently, the child is under dynamic supervision of specialists from the Russian Children's Clinical Hospital. It is recommended to wear orthopedic shoes to compensate for the defect. In the near future, the patient will again go for inpatient treatment to the Russian Children's Clinical Hospital; it is planned to re-install growth zone blockers.

Conclusion. This clinical case is interesting because the generally accepted cause of the disease – a genetic mutation – is excluded. In this patient, the disease is associated with early organic damage to the central nervous system. This fact indicates insufficient knowledge of partial gigantism.

The uniqueness and rarity of this disease require a wide range of diagnostic procedures.

Treatment requires a wait-and-see approach. In the case of progressive growth, aggravating the patient's physical activity, corrective operations are necessary, wearing orthopedic shoes if necessary. To achieve a satisfactory result, multi-stage surgical treatment is necessary. In the postoperative period, rehabilitation and psychological adaptation play an important role.