Autosomal dominant polycystic
liver disease: clinical case report - 41, 2005, № 4, 100-102.
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”
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
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
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: firstname.lastname@example.org
Diaphragmatic hernia of Моrgagni-Larrey - 41, 2005, № 4, 106-109.
L. Nachev(1), At. Kalchev(1)
and V. Molov(2)
(1)Clinic of Surgery, Military Hospital
(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.
words: parasternal hernia, diagnosis, surgical treatment
Address for correspondence: Prof. F. Mitov, M. D., Clinic
of Surgery, Military Hospital, Bg – 4002 Plovdiv
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),
S. Cherninkova(1), H. Krushkov(1),
R. Lemmers(6) and S. van der
(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,
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,
syndrome in children: a case report - 41, 2005, №
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:
of the tongue and the oral cavity floor - 41, 2005, № 3, 107-109.
Clinic of Otorhinolaryngology, University
Hospital "Tzaritza Ioanna"
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
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
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
Department of Pediatrics, MHAT Ruse
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
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,
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 15-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
Address for correspondence: Slavi Filtchev, M. D., Clinic of
Pediatrics, University Hospital “Alexandrovska”,
Medical University, 1, Sv. G. Sofiiski Str., Bg1431
tel. +359 2 923-03-73; GSM +359 887 3000 74
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
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, 8A “G. Kochev” Str., Bg – 5800 Pleven, GSM 359 887 421 968,
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
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: email@example.com