Genital endometriosis as a mask for tuberous sclerosis complex

Мұқаба

Дәйексөз келтіру

Толық мәтін

Ашық рұқсат Ашық рұқсат
Рұқсат жабық Рұқсат берілді
Рұқсат жабық Рұқсат ақылы немесе тек жазылушылар үшін

Аннотация

Background: Tuberous sclerosis complex (TSC) is a rare hereditary disorder characterized by the formation of benign tumors in many systems and organs. This pathology is caused by mutations in the TSC1 and TSC2 genes, which are responsible for encoding hamartin and tuberin proteins that regulate cell growth in various organs and tissues of the body.

Case report: The article presents a description of a clinical case of TSC in a 12-year-old girl. The patient complained of dysmenorrhea since menarche, she also underwent one surgical intervention for uterine cystic mass and extensive pelvic endometriosis. After further thorough examination and diagnostic search involving different specialists from several leading institutions, comparing the clinical picture, results of instrumental and laboratory examinations, as well as the results of genetic testing, which revealed a mutation in the TSC1 gene, the patient was diagnosed with TSC. The clinical observation was characterized by the absence of clear clinical criteria of the disease, such as skin lesions, epileptic seizures, lesions of the central nervous system; however, the symptoms were similar to the clinical manifestations of endometriosis. This caused a delay in making the correct diagnosis and prescribing treatment.

Conclusion: This clinical example may be useful for doctors of different specialties, as the principles of multidisciplinary approach are necessary for timely diagnosis and treatment of such patients.

Толық мәтін

Рұқсат жабық

Авторлар туралы

Maria Yarmolinskaya

D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology

Хат алмасуға жауапты Автор.
Email: m.yarmolinskaya@gmail.com
ORCID iD: 0000-0002-6551-4147
SPIN-код: 3686-3605
Scopus Author ID: 7801562649
ResearcherId: P-2183-2014

Dr. Med. Sci., Professor of the Russian Academy of Sciences, Head of the Department of Gynecology and Endocrinology, Head of the Center of Diagnostics and Treatment of Endometriosis, D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology

Ресей, St. Petersburg

Nadezhda Kokhreidze

Almazov National Medical Research Center, Ministry of Health of Russia

Email: kokhreidze@mail.ru
ORCID iD: 0000-0002-0265-9728
SPIN-код: 9382-2225
Scopus Author ID: 648349

Dr. Med. Sci., Associate Professor, Head of the Department of Gynecology of Children and Adolescents, Children’s Medical and Rehabilitation Complex

Ресей, St. Petersburg

Eduard Komlichenko

Almazov National Medical Research Center, Ministry of Health of Russia

Email: e_komlichenko@mail.ru
ORCID iD: 0000-0002-3790-0446
SPIN-код: 9815-7555
Scopus Author ID: 715180

Dr. Med. Sci., obstetrician-gynecologist of the highest category, Deputy Chief Physician for Oncology, Professor at the Department of Organization, Management and Economics of Health

Ресей, St. Petersburg

Svetlana Leontyeva

St. Petersburg State Pediatric Medical University, Ministry of Health of Russia

Email: sonik1977@yandex.ru
ORCID iD: 0000-0002-5378-1344

Teaching Assistant at the Department of Neonatology with a course of neurology and obstetrics and gynecology FP and DPO, St. Petersburg State Medical University, Ministry of Health of Russia; Head of the Department of Pediatric Gynecology, Children’s Clinical Hospital No. 5

Ресей, St. Petersburg

Anastasiya Koloshkina

D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology

Email: nastyasalukhova@gmail.com
ORCID iD: 0000-0002-5200-7672

Resident

Ресей, St. Petersburg

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Әрекет
1. JATS XML
Жүктеу
2. Fig. 1. Mechanism of mutation formation in TS

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3. Fig. 2. Dysplasia of the bones of the right limb

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4. Fig. 3. Cystic formation of the uterine body with hemorrhagic contents, mistaken for a functioning rudimentary horn

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5. Fig. 4. A cystic formation on a broad base, originating from the anterior wall of the uterus (indicated by an arrow), intraoperatively

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6. Fig. 5. A through defect in the area of ​​postoperative sutures measuring up to 0.5 cm, through which fluid exits the uterine cavity with the formation of a thin-walled bulge on its surface.

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7. Fig. 6. a) cystic formation, general appearance; b) extensive defect of the uterine wall after excision of the cyst; c) the uterine wound is sutured, extensive defect of the peritoneum, vesicouterine folds

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8. Fig. 7. a) MRI of the pelvic organs: cystic formation after surgery; b) Ultrasound of the pelvic organs: extensive defect of the uterine cavity with the formation of cystic cavities

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9. Fig. 8. A and B. Tubers (yellow arrows), radial migration tract (red arrow); C. SEGA (white arrow) [8]

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