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Case reports

Volume 41, 2005



Autosomal dominant polycystic liver disease: clinical case report - 41, 2005, № 4, 100-102.
D. Nikolovska, M. Petrova, K. Jeleva and D. Todorov
Clinic of Gastroenterology, Medical Institute of Ministry of Internal Affairs – Sofia
Summary: The autosomal-dominant polycystic liver disease is inherited condition which hallmark is the multitude of cysts of bilious origin in the parenchyma of the liver. It has clinical manifestation in a small percent of patients. The diagnosis is made by ultrasonographic and computer-tomographic evaluation with exclusion of renal engagement. We describe a familial case of autosomal-dominant polycystic liver disease in three generations. The reason of proband evaluation is a symptomatic HCV infection. We recommend a follow up of affected individuals, such as their families, application of combined anti-HBV and HBA vaccine and avoidance of estrogens.
Key words: polycystic liver disease, familial disease, HCV infection
Address for correspondence:
Assoc. Prof. D. Nikolovska, M. D., Clinic of Gastoenterology, Medical Institute of Ministry of Internal Affairs, 79A, Skobelev Blvd., Bg – 1606 Sofia


A case of a child with severe asthma attack and extrasystolic arrhythmia - 41, 2005, № 4, 103-105.
R. Markova, R. Kabakchieva and P. Perenovska

Clinic of Pediatrics, University Hospital “Alexandrovska” – Sofia
Summary: We present a case report of a 15-year-old girl with family history for allergic diseases. The initially asthma complaints started from 3-th year of age with rare asthma attacks, which did not need asthma prophylaxis. The patient was admitted to the clinic due to a severe asthma attack with bronchial obstruction (expiratory dyspnea, diminished breathing), oxygen saturation 88%. During the treatment with methylprednisolone intravenously and inhaled ventolin, frequent extrasystola were observed. The attempt to withdraw the ventolin medication failed. Further treatment continued with methylprednisolone and a lower dose of ventolin in combination with antiarrhythmic medication – Verapamil. Clinical improvement and increase of ventilatory parameters were achieved.
Key words: bronchial asthma, asthma attack, arrhythmia
Address for correspondence:
R. Markova, M.D., Clinic of Pediatrics, University Hospital “Alexandrovska”, 1, Sv. G. Sofiiski Str., Bg – 1431 Sofia, tel. +359 2 92-30-357, e-mail:


Diaphragmatic hernia of Моrgagni-Larrey - 41, 2005, № 4, 106-109.
F. Mitov
(1), L. Nachev(1), At. Kalchev(1) and V. Molov(2)
(1)Clinic of Surgery, Military Hospital – Plovdiv
(2)IIIrd Surgical Clinic, Department of Surgery, Medical University – Plovdiv
Summary: Parasternal hernia is a rare case of herniation itself and a difficult for diagnosis and treatment surgical problem. Data from literature showed some discrepancy concerning denomination, frequency, clinical appearance, current trends in diagnosis and operative treatment. The purpose of this research was to review the clinical experience in diagnosis and operative treatment of parasternal hernias and to present two consecutive patients with parasternal hernias diagnosed and treated in the surgical clinic at Military Hospital – Plovdiv. The patients were women aged 55 and 69 years, respectively. One of them had left located hernia (Larrey hernia) and the other one – right located hernia (Morgagni hernia). Both hernias were asymptomatic and became evident during X-ray chest examination. One of the patients was diagnosed during screening chest X-ray and the second one – during preoperative examination due to planned inguinal herniotomy. X-ray examination was repeated with contrast material in both of the patients and CT – scan diagnoses of transverse colon herniation was ascertained during preoperative diagnosis process. Operative treatment was performed through thoracotomy and intraoperative findings of transverse colon were confirmed. In conclusion: 1. Parasternal hernia is a rare case of herniation and all efforts must be taken to assure correct preoperative diagnosis. 2. Contrast X-ray chest examination is a method of first choice in the preoperative diagnosis. 3. Thoracotomy and intrathoracal revision is a safe and eligible surgical management.
Key words: parasternal hernia, diagnosis, surgical treatment
Address for correspondence:
Prof. F. Mitov, M. D., Clinic of Surgery, Military Hospital, Bg – 4002 Plovdiv




Differential diagnostic searches in a patient with a novel atypical phenotype of Facioscapulohumeral muscular dystrophy- 41, 2005, № 3, 97-102.
B. Buzhov(1), I. Turnev(1), B. Ishpekova(2), O. Kalev(3), B. Georgieva(4),
S. Cherninkova(1), H. Krushkov(1), P. Docheva(5), N. Popova(1), N. Nikoevski(1),
P. Shotekov(1), R. Lemmers(6) and S. van der Maarel(6)

(1)Department of Neurology, University Hospital “Alexandrovska” – Sofia
(2)Department of Neurology, University Hospital “Tzaritsa Ioanna” – Sofia
(3)Department of Pathology, University Hospital “Alexandrovska” – Sofia
(4)Laboratory of Molecular Pathology, Medical University – Sofia
(5)Department of Propedeutics of Internal Diseases, University Hospital “Alexandrovska” – Sofia
(6)Department of Human and Clinical Genetics, LUMC – Leiden, The Netherlands
Summary: Facioscapulohumeral muscle dystrophy (FSHD) is AD myopathy with settled diagnostic criteria. Atypical disease phenotypes are described, together with cases presenting with exclusion diagnostic features. Differential diagnosis of FSHD includes more than ten other myopathies. For proper diagnostic exclusion, we performed a variety of diagnostic tests. They include immunocytochemistry and sophisticated genetic techniques. Hereby, we describe a new FSHD phenotype with bilateral involvement of mm. triceps surae together with pseudohypertrophy and slight facial muscle weakness. In addition, we describe a suitable way of studying these types of patients.
Key words: FSHD, atypical phenotypes, extensive differential diagnosis, new phenotype
Address for correspondence:
Borian Buzhov, M. D., Department of Neurology, University Hospital "Alexandrovska", 1, Sv. G. Sofiiski Str., Bg - 1431 Sofia, tel. +359 2 923-03-38, e-mail:


Stevens–Johnson syndrome in children: a case report - 41, 2005, № 3, 103-106.
B. Shentov(1), D. Gospodinov(2), V. Nedkova(1) and M. Aleksieva(2)

(1)Department of Pediatrics, University Hospital - Pleven
(2)Department of Dermatology, University Hospital - Pleven
Summary: Stevens–Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are the most severe cutaneous reactions that occur in children and most of the cases are drug induced. They are very rare diseases with an incidence of about two cases per one million inhabitants per year. The disease process is probably immunologically mediated and often involves abnormal metabolism of the responsible medication. The result is apoptosis of epithelial cells and full thickness necrosis of the epidermis. Mucous membrane involvement is noted in 90% of patients. SJS and TEN have similar precipitating factors, identical histopathologic lesions, and similar clinical patterns. Anticonvulsants are among the most common offending drugs. A case of carbamazepin-induced SJS in a 5-year-old girl was described and a short review of the literature was made.
Key words: Stevens–Johnson syndrome, children
Address for correspondence:
Boiko Shentov, M. D., Department of Pediatrics, University Hospital, 8, G. Kochev Str., bg – 5800 Pleven, tel. +359 64 88-64-01, e-mail:


Carcinoma of the tongue and the oral cavity floor - 41, 2005, № 3, 107-109.
Iv. Tzenev

Clinic of Otorhinolaryngology, University Hospital "Tzaritza Ioanna" – Sofia
Summary: Carcinoma of the tongue and the floor of the oral cavity is a severe, almost fatal disease in spite of surgical and radiotherapeutic interventions. In the last years, a harsh increase in its frequency (as the number of new cases) is observed. It is due to the late diagnosing on behalf of the individual practising physicians. The diagnosis is extremely easy by the use of pharyngoscopy, but due to a lack of professional experience, the lesion is mostly interpreted as harmless pharyngitis, glossitis etc.
Key words: carcinoma of the tongue and the oral cavity floor, diagnosis, treatment
Address for correspondence:
Prof. Ivan Tzenev, M. D., Clinic of Otorhinolaryngology, University Hospital "Tzaritza Ioanna",  8, Bialo more Str., Bg - 1527 Sofia




Idiopathic pulmonary hemosiderosis and myocarditis - 41, 2005, № 2, 107-111.
R. Kabakchieva(1), A. Kalbanova(2), L. Spasov(3), R. Markova(1) and P. Perenovska(1)
(1)Clinic of Pediatrics, University Hospital "Alexandrovska" Sofia
(2)First Department of Pediatrics, MHAT Ruse
(3)Clinic of Pediatric Cardiology, SHATPD Sofia
Summary: Idiopathic pulmonary hemosiderosis is a rare disease, characterized by repeated intra-alveolar bleedings and iron-deficiency anemia. Four variants of the disease are generally accepted, one of which is associated with myocarditis.
We report a 12-year-old girl with repeated episodes of cough, hemoptysis, weakness and pallor, present for an year, diagnosed as being pulmonary hemosiderosis. She was admitted to Pediatric clinic with cardiac insufficiency during crisis of the disease. Myocarditis was diagnosed, based on the clinical findings, electrocardiographic and echocardiographic investigations. The difficulties in diagnosis, treatment and yet poor prognosis are discussed.
Key words: idiopathic pulmonary hemosiderosis, myocarditis
Addres for correspondence: Radost Kabakchieva, M.D., Clinic of Pediatrics, University Hospital “Alexandrovska”, 1, Sv. G. Sofiiski Str., Bg – 1431 Sofia, tel. +359 2
92-30-357, e-mail:


A case of visceral larva migrans with Loffler syndrome in a 16-year-old boy - 41, 2005, № 2, 112-115.
S. Filtchev, L. Raicheva, M. Yankova and Т. Stoeva
Clinic of Pediatrics, University Hospital Alexandrovska, Sofia
Summary: Human toxocariasis is a common, worldwide helminthozoonosis. The diagnosis relies upon specific serology. A 16-year-old boy became severely ill with clinical and X-ray data indicating right-situated pneumonia. X-ray data about left-situated pulmonary infiltrate had been ascertained after 1
5-days broad-spectrum antibiotic therapy. The conducted blood sample investigations indicated marked eosinophilia (58%) in the complete blood count without other pathological deviations, thus giving reasons for setting diagnosis active helminthiasis. The clinical diagnosis was confirmed by positive ELISA test for Toxocara canis antibodies, titre – 1:84, indicating current Toxocara infection (normal range – 1:34). An effective fifteen-day treatment with systemic albendazole was carried out. The effect was confirmed by the normalization of the successive investigations: physical, X-ray, laboratory investigations (eosinophilia – 4%) and ELISA (1:48). These data demonstrate, that patients with migrating pulmonary infiltrates and blood eosinophilia in CBC should be checked for helminthiases.
Key words: visceral larva migrans, Toxocara canis, eosinophilia, migratory pulmonary infiltrates
Address for correspondence: Slavi Filtchev, M. D., Clinic of Pediatrics, University Hospital “Alexandrovska”, Medical University,
1, Sv. G. Sofiiski Str., Bg1431 Sofia,
+359 2 923-03-73; GSM +359 887 3000 74



Familial juvenile nephronophthisis – is it difficult to diagnose the rare nephropathies? – 41, 2005, No 1, 99-105.
V. Todorov, B. Borisov and M. Yankova

Clinic of Nephrology and Dialysis, University Hospital - Pleven
Summary: The definition and knowledge about nephronophthisis develop slowly. In Europe in the past the attention has been focused on tubular changes as opposed to USA, where cysts in medulla have been pointed as leading disturbance. Clinical heterogeneity of the disease was theme of debate for a long period of time. Despite clinical and genetic heterogeneity do not determine obligatory development of different diseases, many scientists prefer the name “nephronophthisis-medullary cystic disease (NPH-MCD) complex”. Until sure data regarding the incidence of NPH-MCD do not exist, it is not appropriate to discuss its rarity on the basis of described cases. The increase of data pointing familial character of the disease clarifies that many cases with typical renal symptoms were overestimated or misdiagnosed. The cases described by us correspond with classical picture of juvenile nephronophthisis – “pure” urine finding, absence of arterial hypertension, development of chronic renal failure before 20 years of age. Sono­gra­ph­ically, it was established normal size of kidneys, many cysts and large areas of “normal’ parenchyma. Renal biopsy confirmed chronic interstitial nephritis in the first patient.
Key words: juvenile nephronophthisis, medullary cystic disease, syndrome of Fanconi, chronic renal failure
Address for correspondence: Assoc. prof. Vasil Todorov, M. D., Clinic of Nephrology and Dialysis, University Hospital, 8AG. KochevStr., Bg – 5800 Pleven, GSM 359 887 421 968, е-mail:

Temporal arteritis and visceral toxocariasis  – 41, 2005, No 1, 106-107.
University Hospital “Sv. Anna” - Sofia
Summary: Temporal arteritis belongs to the group of giant cell vasculitides. The disease has typical clinical manifestation and responds well to therapy with сorticosteroids and immunosuppressive agents. Toxocariasis is helminthozoonosis due to migration of Toxocara larvae in human organism. Clinically, it is characterized by visceral larva migrans, ocular larva migrans and covert toxocarosis. We present a patient with temporal arteritis and visceral toxocariasis - a combination that is extremely rare. Therapeutic strategy when there is a combination of autoimmune and parasitic disease is discussed.
Key words: temporal arteritis, toxocariasis
Address for correspondence: Daniela Ianeva, M. D., University Hospital “Sv. Anna”, 1, Al. Mollov Str., Bg - 1756 Sofia, tel. +359 2 975-92-13, e-mail:

Medical University
Central Medical Library
1, Sv. G. Sofijski Str., Bg- Sofia 1431
phone 952-05-09, fax 952-23-93

Executive secretary, Manuscript Editor and Proofreader I. Miteva, Terminology controlB. Stantcheva, M.D., Web-site support - Dr. Zh. Surcheva
Medical University - Sofia, Central Medical Library


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