THREE FAMILY CASES OF DIFFERENT GENERATIONS WITH AUTOSOMAL DOMINANT INHERITANCE OF RETINITIS PIGMENTOSA, PROVED BY DIGITAL ELECTRORETINOGRAM (ERG)
K. Koev1, R. Georgiev1 and S. Cherninkova2
1Clinic of Ophthalmology, Alexandrovska University Multiprofile Active Treatment Hospital
2Clinic of Neurology, Alexandrovska University Multiprofile Active Treatment Hospital
Summary: Three family cases with Retinitis pigmentosa (RP) rod-cone dystrophy with autosomal dominant inheritance according to American Academy of Ophthalmology classification were diagnosed and studied: the grandmother G. D., 83 years old; the son A.D., 61 years old and granddaughter A.B., 27 years old. The test with digital ERG was conducted for the first time in Bulgaria. During the photopic test, there was observed retinogram with normal morphology and polarity but with drastic decline of the amplitude by 50 mV on average. In the process of dark adaptation, a decline of bioelectric activity was detected: from subnormal to non-recording ERG during white and blue flashes at 30 Hz. Differential diagnosis with other forms of tapetoretinal degenerations was established through specific digital image of induced bioelectric activity. In all of the three different generations’ cases, there was established reduction in residual bioelectric activity with the advancing of age of the patients with progressive degenerative RP disease. The diagnosis was confirmed clinically/ophthalmoscopically with the typical appearance of the fundus of the eye (with colour tests) ATL, Ishihara table and Rabkin chart, All color Anomaloscope IF-2 TOMEY, Test 28 HUE de Roth Farnsworth-Munsell, with kinetic Kugel perimeter and automated Humphrey perimeter using the SITA-Fast computerized perimetric threshold strategy. During the colour test, the grandmother and the father could read only ATL, which proves there was no acquired colour vision disorder. This is in confirmation to the autosomal dominant inheritance. In the process of anomaloscopic test and the colour tables and charts of Ishihara and Rabkin, as well as Test 28 HUE de Roth Farnsworth-Munsell, the grandmother and the father were found to be with deuteranomaly. The granddaughter had a normal trichromacy. The perimetric tests showed concentric narrowing of the visual field to tubular vision. Serum for genetic tests was taken form the three family cases in order to confirm the diagnosis and administer a gene therapy.
Key words: retinitis pigmentosa, electroretinogram, autosomal dominant inheritance, perimeter, colour vision
Address for correspondence: Krassimir Koev, MD, Clinic of Ophthalmology, UMBAL “Aleksandrovska”, 1, Sv. G. Sofiiski Str., Bg – 1431 Sofia, tel. +359 2 8365504, е-mail: firstname.lastname@example.org
METACHRONOUS TESTICULAR SEMINOMA 16 YEARS AFTER THE PRIMARY TUMOR
L. Veltchev1, M. Kalniev2 and T. Todorov3
1Fellow, Master’s Program in Hepatobiliary Pancreatic Surgery Henri
Bismuth Hepatobiliary Institute – France
2Department of Anatomy and Histology, Medical University – Sofia
3Department of Pathological Anatomy, Medical University – Sofia
Summary: A 28-year-old male presented at a regional hospital with a pulling sensation and feeling of unusual heaviness in the right scrotum. Pain and discomfort appeared two weeks ago. The patient had no previous medical history. Physical examination, US and CT confirmed 26 mm mass, localized centrally in the right testis without metastatic process and patient was treated with right inguinal orchiectomy, followed by 25 Gy radiotherapy. After 16 years and 3 months the same symptomatology started in the left side and US discovered two masses: 15 and 21 mm in the left testis. Investigation included tumor marker assessment, scrotal US, CT and biopsy. Diagnosis was metachronous testicular seminoma, stage T1N1M0. Biopsy, radical orchiectomy, androgen substitution and follow-up were performed.
Key words: seminoma, bilateral, germ-cell tumor
Address for correspondence: Ludmil Marinov Veltchev, MD PhD, Henri Bismuth Hepatobiliary Institute, 12-14, avenue Paul Vaillant-Couturier, 94804 Villejuif Cedex, France, mobile: +359 876 259 685, e-mail: email@example.com
A CASE OF THYROXINE-DEIODINASE DEFICIENCY SYNDROME
I. Krestev, A. Kresteva and M. Penev
Department of Propedeutics of Internal Diseases, Medical University – Sofia
Summary: We described the first case in Bulgarian literature with Thyroxin deiodinase deficiency.
Key words: thyroxin-deiodinase deficiency, hypothyroidism
Address for correspondence: Ivan Krestev, MD, Department of propedeutics of Internal Diseases, Medical University, 1 Sv. G. Sofiyski str., Bg-1431 Sofia, GSM: 0888/514777, e-mail: Thyroidites_ivan@yahoo.com
VARICELLA PNEUMONIA DURING PREGNANCY – А CASE STUDY
I. Boev, Z. Kazakova, A. Gocheva, A. Tzoneva and A. Dineva
Clinic of Infectious Diseases, University Hospital “Sv. Georgi” – Plovdiv
Summary: Varicella is a harmless viral illness in children but with a significant impact on non-immune pregnant women, their babies and immunocompromised subjects. Herein we present a case of a pregnant woman who contracted varicella in the third trimester. On the fourth day, she developed pneumonia, later complicated with acute respiratory distress syndrome. An endotracheal tube was placed for mechanical ventilation. She was treated in intensive care unit in close collaboration with obstetrician and anaesthesist. The outcome for the patient was favourable. The possibilities for post-exposure prophylaxis are discussed so as to prevent further such incidents.
Kew words: varicella, pneumonia, acute respiratory distress syndrome, pregnancy
Address for correspondence: Ivan Boev, MD, Clinic of Infectious Diseases, University Hospital “Sv. Georgi”, 66 Peshtersko shоse str., Bg-4004 Plovdiv, tel.: 032/602 931, GSM: 0888453422, е-mail: firstname.lastname@example.org
GASTROINTESTINAL METASTASES FROM LOBULAR BREAST CANCER
V. Gerova1, L. Tankova1, A. Mihova2, I. Drandarskа2 and H. Kadian1
1Clinic of Gastroenterology, University Hospital “Tsaritsa Yoanna – ISUL” – Sofia
2Laboratory of Pathomorphology, Military Medical Academy – Sofia
Summary: Breast cancer (BC) is the most common malignancy in the women. Metastatic BC typically involves lungs, liver and bones. Gastrointestinal (GI) metastases are rare and usually occur in patients with invasive lobular BC. The upper GI tract is more frequently involved. We report a case of a 56-year-old woman with liver, gastric and rectal metastases five years after radical left mastectomy with axillary node dissection because of invasive lobular BC ((pT1b, N1, M0), followed by adjuvant radiotherapy and hormonal therapy (tamoxifen). Ultrasonography, endoscopy and ultrasonographic endoscopy because of abdominal discomfort, tenesmus and rectal bleeding demonstrated liver, gastric and rectal metastases with histological and immunohistological patterns of metastatic lobular BC. The patient died 10 months after diagnosing of GI metastases. The case is of interest with a feature of liver and GI metastases in double sites (stomach and rectum) and illustrates the need of special attention to search for GI metastatic disease in patients with invasive BC who present with nonspecific GI symptoms.
Key words: breast carcinoma, metastases, gastrointestinal tract
Address for correspondence: Vanya Gerova, MD, PhD, Clinic of Gаstroenterology, University Hospital “Tsaritsa Yoanna – ISUL”, 8 Byalo more str., Bg-1527, Sofia, tel.: +359 2 94 32 323, e-mail: email@example.com
SURGICAL TREATMENT OF ECTOPIC BREAST TISSUE – CONTRIBUTION
OF TWO CASES
V. Uzunova1, G. Paskalev1, E. Poryazova2, V. Belovezhdov2, D. Manolova3, K. Murdzhev1,
A. Uchikov1 and A. Jankulov1
1Clinic of Thoracic and Abdominal Surgery
2Department of Common and Clinical Pathology
3Department of Radiology
Medical University – Plovdiv
Summary: The ectopic benign breast tissue is a rare entity in the axillary area and the chest wall. The authors present two cases – one of a 45-year-old woman who had a lump of the chest wall for 20 years; the other of a 46-year-old woman with a lump in the right axillary area after hysterectomy. Both patients underwent mammographic examination and excisional biopsy, and benign breast tissue was diagnosed without histological signs of malignancy. Such cases might be dicovered more frequently if regular mammographic screening combined with biopsy is applied. It is very important to define exactly the presence of benign breast tissue in order to avoid wrong diagnosis and therapy.
Key words: breast tissue, ectopic tissue, excisional biopsy
Address for correspondence: V. Uzunova, MD, Clinic of Thoracic and Abdominal Sugery, Medical University – Plovdiv, 66 Peshtersko shosse bulv., Bg-4002, Plovdiv, tel. +35932/602-963
B. Varbanova(1), V. Vasileva(1), P. Minchev(2), R. Nedeva(1) and E. Dyankov(1)
(1)University Hospital “Sv. Marina” – Varna
(2)University Children’s Clinic of Pulmonary Diseases, СБАЛББ „Sv. Sofia” – Sofia
Summary. Bacille Calmette-Guerin (BCG) osteomyelitis is a very rare, serious complication of BCG immunization. We report a 7-month-old boy who was admitted for 3-day history of fever, limited range of movement of the right shoulder and tenderness of right arm. Laboratory investigations showed mild leucocytosis with relative lymphocytosis, high levels of CRP. CT scan of humeral regions revealed: juxta-articular osteoporosis, well demarcated eccentric osteolytic lesion in proximal right humerus, periostal reaction with cortical infarctions, soft-tissue swelling and liquefaction adjusted to the underlying bone. Hyperergic tuberculin sensitivity – 17 mm bullous infiltrate, was detected by Mantoux test. Chest X-ray and QFT were normal. Underlying immunodeficiency syndrome was excluded. Three-month tuberculostatic treatment leaded to the complete resolution of the disease. The case is presented for its rarity in Bulgarian population.
Key words: BCG osteitis/osteomyelitis, BCG immunization, child
Address for correspondence: Assoc. Prof. B. Varbanova, Head of Second pediatric clinic, UMHAT Sv. Marina”, 1 H. Smirnenski blvd., Bg-9010, Varna, tel.: 052/978 298
INTRAABDOMINAL EXTRALOBAR PULMONARY SEQUESTRATION, MIGRATED THROUGH A CONGENITAL BOCHDALEK DIAPHRAGMATIC HERNIA. A CASE REPORT AND REVIEW OF THE LITERATURE
Section of Pediatric Surgery, UMHATEM ”N. I. Pirogov” – Sofia, Bulgaria
Summary. Congenital malformations of the lower respiratory tract are infrequent disorders of lung development, today usually diagnosed and managed antenatally, in the newborn period or in infancy. The majority of pulmonary sequestrations have associations with extrapulmonary anomalies and are a common foregut malformation of the lung and comprise 0,15 to 6,4 % of all congenital pulmonary malformations. Only 10% of extralobar sequestrations are subdiaphragmatic. The Bochdalek defect is the most common congenital diaphragmatic lesion. The authors describe a case of combination of these anomalies that is suggested to be relatively rare. In this case, the pulmonary sequestration may be a reason for delayed clinical presentation. They discuss the possible embryologic reasons for development of this polymalformation, and the possible surgical complications.
Key words: intraabdominal extralobar pulmonary sequestrations, Bochdalek diaphragmatic hernia
Address for correspondence: Assoc. Prof. Rosen Drebov, MD, Section of pediatric surgery, UMHAT “N. I. Pirogov”, 21 blvd. Totleben, Bg-1606, Sofia, tel.: 91-54-553, e-mail: firstname.lastname@example.org