Gábor Simon

Gaucher disease: The importance of early diagnosis and therapy

Gaucher disease is the most common lysosomal storage disorder caused by deficiency of the lysosomal enzyme glucocerebrosidase. By the end of 2006, the total enrollment in the international Gaucher Disease Registry included 4584 patients, 34 of them were Hungarian. The disease has three main types: non neuropathic (Type 1), acute neuropathic (Type 2), and chronic neuropathic (Type 3). The non-neuropathic type has the highest prevalence and also the greatest variability. The first symptoms occur before 10 years of age in more than 50% of the patients. Early onset of the clinical symptoms and signs predispose patients to severe phenotype and irreversible complications. Safe and efficient enzyme substitution therapy has been available from 1991 and applied since 1992 in Hungary. Optimal dose and early therapy are effective in stopping disease progression, leading to the regression of visceral and haematological abnormalities, preventing irreversible bone deformities, and providing a better quality of life. The authors present here three patients with Gaucher disease diagnosed in early childhood. They highlight the importance of early diagnosis and treatment before the development of severe co-morbidities or irreversible complications. They also analyse the challenges for pediatricians in establishing correct diagnosis of Gaucher disease in time.

[Gaucher disease: importance of early diagnosis and therapy].

Gaucher disease is the most common lysosomal storage disorder caused by deficiency of the lysosomal enzyme glucocerebrosidase. By the end of 2006, the total enrollment in the international Gaucher Disease Registry included 4584 patients, 34 of them were Hungarian. The disease has three main types: non neuropathic (Type 1), acute neuropathic (Type 2), and chronic neuropathic (Type 3). The non-neuropathic type has the highest prevalence and also the greatest variability. The first symptoms occur before 10 years of age in more than 50% of the patients. Early onset of the clinical symptoms and signs predispose patients to severe phenotype and irreversible complications. Safe and efficient enzyme substitution therapy has been available from 1991 and applied since 1992 in Hungary. Optimal dose and early therapy are effective in stopping disease progression, leading to the regression of visceral and haematological abnormalities, preventing irreversible bone deformities, and providing a better quality of life. The authors present here three patients with Gaucher disease diagnosed in early childhood. They highlight the importance of early diagnosis and treatment before the development of severe co-morbidities or irreversible complications. They also analyse the challenges for pediatricians in establishing correct diagnosis of Gaucher disease in time.

[Spontaneous splenic rupture as a complication of symptom-free infections mononucleosis].

Splenic rupture is a rare complication of infectious mononucleosis. Although it occurs only in 0.1%-0.5% of cases, splenic rupture remains the most common fatal complication of the disease. Mononucleosis related spontaneous rupture of the spleen without any other characteristic symptoms of the disease is extremely unusual, and threatens with fatal outcome due to its rare and unexpected occurrence. The authors report the case of a 16-year-old boy who needed splenectomy following a spontaneous rupture of the spleen. Serological tests proved an acute Epstein-Barr virus infection in the background but without any signs or symptoms of infectious mononucleosis. The diagnosis and treatment of this infection related to spleen ruptures are also discussed.

Discussion of large deep venous thrombosis in childhood, based on three case studies

Deep venous thrombosis is a rare disease in children under the age of 18, with an estimated incidence of 1/100,000 per year in Hungary. Its typical localization in children is in the extremities, usually occurring in newborns and in teenagers. Both congenital and acquired risk factors can be in the background. Although it is a rarity, we should think of it, because late diagnosis can cause life-threatening conditions like pulmonary embolism or central nervous system thrombosis. Detailed medical history can help the diagnosis. Etiology, possible congenital and acquired risk factors, as well as diagnostic and therapeutic options are discussed through three cases of teenage children. Diagnostic difficulties of deep venous thrombosis in childhood are the following: the occurrence is rarer than in adulthood therefore it is often forgotten as a possible diagnosis, coagulation parameters are age-dependent, and diagnosis with imaging techniques is more difficult.A melyvenas trombozis 18 ev alatt ritka megbetegedes, becsult adatok szerint Magyarorszagon evente 1/100 000 a gyakorisaga. Gyermekkorban a vegtagi lokalizacio a jellemző, elsősorban ujszulott- es serdulőkorban fordul elő. Letrejotteben veleszuletett es szerzett hajlamosito tenyezők jatszanak szerepet. Ritkasaga ellenere is gondolnunk kell ra, mivel a diagnozis felallitasaban tortenő keslekedes eletveszelyt jelenthet a lehetseges szovődmeny (pulmonalis embolia), illetve a lokalizacio (kozponti idegrendszeri venas sinusok) miatt. A reszletes, pontos anamnezis segithet a korisme meghatarozasaban. A szerzők harom serdulőkoru beteguk kapcsan tekintik at a melyvenas trombozis etiologiajat, orokletes es szerzett rizikotenyezőit, valamint a diagnosztikus es terapias lehetősegeket. A gyermekkori melyvenas trombozis diagnosztikajanak buktatoi: ritkabban fordul elő, mint felnőtteknel, igy nem mindig gondolnak ra, az alvadasi laborparameterek eletkorfuggőek, valamint a kepalkoto vizsgalatok nehezebben kivitelezhetők...

[Large deep venous thrombosis in childhood--three cases].

Deep venous thrombosis is a rare disease in children under the age of 18, with an estimated incidence of 1/100,000 per year in Hungary. Its typical localization in children is in the extremities, usually occurring in newborns and in teenagers. Both congenital and acquired risk factors can be in the background. Although it is a rarity, we should think of it, because late diagnosis can cause life-threatening conditions like pulmonary embolism or central nervous system thrombosis. Detailed medical history can help the diagnosis. Etiology, possible congenital and acquired risk factors, as well as diagnostic and therapeutic options are discussed through three cases of teenage children. Diagnostic difficulties of deep venous thrombosis in childhood are the following: the occurrence is rarer than in adulthood therefore it is often forgotten as a possible diagnosis, coagulation parameters are age-dependent, and diagnosis with imaging techniques is more difficult.A melyvenas trombozis 18 ev alatt ritka megbetegedes, becsult adatok szerint Magyarorszagon evente 1/100 000 a gyakorisaga. Gyermekkorban a vegtagi lokalizacio a jellemző, elsősorban ujszulott- es serdulőkorban fordul elő. Letrejotteben veleszuletett es szerzett hajlamosito tenyezők jatszanak szerepet. Ritkasaga ellenere is gondolnunk kell ra, mivel a diagnozis felallitasaban tortenő keslekedes eletveszelyt jelenthet a lehetseges szovődmeny (pulmonalis embolia), illetve a lokalizacio (kozponti idegrendszeri venas sinusok) miatt. A reszletes, pontos anamnezis segithet a korisme meghatarozasaban. A szerzők harom serdulőkoru beteguk kapcsan tekintik at a melyvenas trombozis etiologiajat, orokletes es szerzett rizikotenyezőit, valamint a diagnosztikus es terapias lehetősegeket. A gyermekkori melyvenas trombozis diagnosztikajanak buktatoi: ritkabban fordul elő, mint felnőtteknel, igy nem mindig gondolnak ra, az alvadasi laborparameterek eletkorfuggőek, valamint a kepalkoto vizsgalatok nehezebben kivitelezhetők...

Meningealis izgalmi tünetekkel jelentkező infektív endocarditis@@@Infective endocarditis appearing with meningeal signs

The authors present the case of a 12-year old girl with infective endocarditis. Following an initial three-day period of malaise, she was admitted to the hospital with meningeal signs. The clinical symptoms and the results of the laboratory examinations, lumbar puncture and hemoculture supported the diagnosis of Staphylococcus sepsis and meningitis. The initiation of antimicrobial therapy resulted in temporary improvement while a systolic cardiac murmur appeared. Transthoracal echocardiogram raised the diagnosis of mitral valve endocarditis. Due to the subsequent deterioration in her condition, the patient was referred to the Pediatric Heart Center of the Gottsegen György National Institute of Cardiology where transoesophageal echocardiogram confirmed the diagnosis. The vegetations were removed by extracorporeal cardiac surgery including mitral valve plasty. Retrospectively, septic embolisation caused multiplex brain infarcts were identified by cranial MRI scan as the underlying cause of the initial clinical symptoms and liquor results. Following her recovery, patient remained well with some mild residual mitral regurgitation and without any residual neurological symptoms.

Meningealis izgalmi tünetekkel jelentkezo infektív endocarditis

The authors present the case of a 12-year old girl with infective endocarditis. Following an initial three-day period of malaise, she was admitted to the hospital with meningeal signs. The clinical symptoms and the results of the laboratory examinations, lumbar puncture and hemoculture supported the diagnosis of Staphylococcus sepsis and meningitis. The initiation of antimicrobial therapy resulted in temporary improvement while a systolic cardiac murmur appeared. Transthoracal echocardiogram raised the diagnosis of mitral valve endocarditis. Due to the subsequent deterioration in her condition, the patient was referred to the Pediatric Heart Center of the Gottsegen György National Institute of Cardiology where transoesophageal echocardiogram confirmed the diagnosis. The vegetations were removed by extracorporeal cardiac surgery including mitral valve plasty. Retrospectively, septic embolisation caused multiplex brain infarcts were identified by cranial MRI scan as the underlying cause of the initial clinical symptoms and liquor results. Following her recovery, patient remained well with some mild residual mitral regurgitation and without any residual neurological symptoms.

Infective endocarditis appearing with meningeal signs

The authors present the case of a 12-year old girl with infective endocarditis. Following an initial three-day period of malaise, she was admitted to the hospital with meningeal signs. The clinical symptoms and the results of the laboratory examinations, lumbar puncture and hemoculture supported the diagnosis of Staphylococcus sepsis and meningitis. The initiation of antimicrobial therapy resulted in temporary improvement while a systolic cardiac murmur appeared. Transthoracal echocardiogram raised the diagnosis of mitral valve endocarditis. Due to the subsequent deterioration in her condition, the patient was referred to the Pediatric Heart Center of the Gottsegen György National Institute of Cardiology where transoesophageal echocardiogram confirmed the diagnosis. The vegetations were removed by extracorporeal cardiac surgery including mitral valve plasty. Retrospectively, septic embolisation caused multiplex brain infarcts were identified by cranial MRI scan as the underlying cause of the initial clinical symptoms and liquor results. Following her recovery, patient remained well with some mild residual mitral regurgitation and without any residual neurological symptoms.

Gaucher-kór: A korai diagnózis és terápia jelentosége

Gaucher disease is the most common lysosomal storage disorder caused by deficiency of the lysosomal enzyme glucocerebrosidase. By the end of 2006, the total enrollment in the international Gaucher Disease Registry included 4584 patients, 34 of them were Hungarian. The disease has three main types: non neuropathic (Type 1), acute neuropathic (Type 2), and chronic neuropathic (Type 3). The non-neuropathic type has the highest prevalence and also the greatest variability. The first symptoms occur before 10 years of age in more than 50% of the patients. Early onset of the clinical symptoms and signs predispose patients to severe phenotype and irreversible complications. Safe and efficient enzyme substitution therapy has been available from 1991 and applied since 1992 in Hungary. Optimal dose and early therapy are effective in stopping disease progression, leading to the regression of visceral and haematological abnormalities, preventing irreversible bone deformities, and providing a better quality of life. The authors present here three patients with Gaucher disease diagnosed in early childhood. They highlight the importance of early diagnosis and treatment before the development of severe co-morbidities or irreversible complications. They also analyse the challenges for pediatricians in establishing correct diagnosis of Gaucher disease in time.

Tünetmentes mononucleosis infectiosa szövodményeként kialakult spontán lépruptura

Splenic rupture is a rare complication of infectious mononucleosis. Although it occurs only in 0.1%-0.5% of cases, splenic rupture remains the most common fatal complication of the disease. Mononucleosis related spontaneous rupture of the spleen without any other characteristic symptoms of the disease is extremely unusual, and threatens with fatal outcome due to its rare and unexpected occurrence. The authors report the case of a 16-year-old boy who needed splenectomy following a spontaneous rupture of the spleen. Serological tests proved an acute Epstein-Barr virus infection in the background but without any signs or symptoms of infectious mononucleosis. The diagnosis and treatment of this infection related to spleen ruptures are also discussed.