Various different regimes exist for the treatment of hereditary pancreatitis in childhood. Here, ... more Various different regimes exist for the treatment of hereditary pancreatitis in childhood. Here, we propose a therapeutic pathway with emphasis on endoscopic and surgical procedures. From 2006 to 2013, 12 patients with a diagnosis of hereditary pancreatitis were prospectively included in a therapeutic step-up schema. The treatment outcome was evaluated and correlated to aetiological factors and pathoanatomic findings. After diagnostic work-up (laboratory data, ultrasound examination, magnetic resonance cholangiopancreatography and genetic testing), all 12 patients underwent early endoscopic retrograde cholangiopancreatography (ERCP), which was successfully performed in ten children. Obstructive pancreatitis was found in eight children, and required sphincterotomy, dilation and stenting for 12months. In two children with unsuccessful ERCP, open surgical drainage procedures were performed. After a mean follow-up of 32months all children are free of recurrence of pancreatitis without any impairment of everyday activities. For children with hereditary pancreatitis, a therapeutic step plan with early ERCP and open surgical drainage procedures in case of impossible or insufficient endoscopic treatment prevents recurring pancreatitis and offers a normal quality of life without any major complications.
Chest X-ray in a 17-year-old boy, presenting with haemoptysis, revealed a radiopaque foreign body... more Chest X-ray in a 17-year-old boy, presenting with haemoptysis, revealed a radiopaque foreign body (FB) in the right lower lobe. There was no history of aspiration. CT located the needle-shaped FB in the right posterobasal lower lobe segment bronchus. In bronchoscopy, the FB turned out to be a pin, of which the radiolucent plastic head was embedded in the peribronchial tissue. Extraction by flexible and rigid bronchoscopy failed; finally, thoracotomy and bronchotomy had to be performed to remove the pin. In delayed diagnosis of a tracheobronchial FB, CT scan is not only necessary to localise the FB but also to depict or rule out secondary pulmonary changes. Nevertheless, radiolucent components of a metallic FB might be invisible even in CT, leading to underestimation of its size and extension. Late diagnosis complicates removal of tracheobronchial foreign bodies and may even necessitate open surgery, including pulmonary resections.
Costello syndrome is a rare congenital disease with typical craniofacial and musculoskeletal feat... more Costello syndrome is a rare congenital disease with typical craniofacial and musculoskeletal features, cutaneous lesions, cardiac defects and cancer susceptibility. Affected patients show severe feeding difficulties for the first years of life and developmental delay. We present the case of a patient, in whom fetal tachycardia, polyhdramnios and physical characteristics led to an early diagnosis of Costello syndrome. Based on this patient we describe challenges and problems of therapeutic management of infants with Costello syndrome.
ABSTRACT Der intrauterine segmentale Volvulus der ,,Midgut“-Schleife ist eine seltene, bisweilen ... more ABSTRACT Der intrauterine segmentale Volvulus der ,,Midgut“-Schleife ist eine seltene, bisweilen lebensbedrohliche Erkrankung des Fetus und des Neugeborenen. Im Gegensatz zum klassischen Volvulus des Neugeborenen liegt in der Regel keine Lageanomalie des Darms vor. Das Fehlen der charakteristischen klinischen Zeichen wie Duodenalobstruktion, ,,whirl sign“ oder grünes Erbrechen macht die Diagnosestellung schwierig. Es wird über den Fall eines intrauterinen segmentalen Midgut-Volvulus berichtet, der perinatal durch Hydrops fetalis, Aszites und Anämie aufgefallen war. Intraoperativ fand sich eine Atresie des terminalen Ileums mit V-förmigem Mesenteriumdefekt. Durch diesen war es zu einem segmentalen Volvulus des vorgeschalteten Darms mit hämorrhagischer Infarzierung und Perforation gekommen. Die Einblutung in den Darm war für die Ausbildung der Anämie verantwortlich. Im Fall von ausgeprägtem Aszites, Hydrops fetalis und Anämie sollte ein segmentaler Midgut-Volvulus in Betracht gezogen werden. Das Wissen um die spezielle Pathologie dieser Erkrankung ermöglicht eine bessere Planung des perinatalen Managements.
Zusammenfassung Die CMCC-Läsion (CMCC: „congenital midline cervical cleft“, mediane Halsspalte) ... more Zusammenfassung Die CMCC-Läsion (CMCC: „congenital midline cervical cleft“, mediane Halsspalte) ist zwischen Kinn und suprasternaler Region, am häufigsten knapp unterhalb der Schilddrüsenregion, lokalisiert. Typisch ist ein Hautnippel am oberen Pol, dem eine rötliche Hautrinne und am unteren Abschnitt ein Sinusgang folgen. Unter dieser oberflächlichen Hautveränderung findet sich ein derber, fibröser Strang. Aus kosmetischen Gründen, des mit zunehmendem Alter steigenden Risikos einer
Neonates with congenital heart disease are at risk to develop necrotizing enterocolitis (NEC). Es... more Neonates with congenital heart disease are at risk to develop necrotizing enterocolitis (NEC). Especially in the postoperative period after correction of a congenital heart defect this intestinal inflammatory disease can be a potentially life-threatening complication. The purpose of this case series is to define the specific features of NEC in the postoperative situation, with emphasis on diagnostic difficulties.Medical records of neonates developing severe NEC in the postoperative period after surgical correction of a congenital heart defect from 2008 to 2011 were reviewed and compared.7 neonates with NEC after surgical correction of a congenital heart defect were identified. In all 7 patients typical radiologic findings of NEC were missing. Diagnosis was late in all 7 cases; 5 patients already had intestinal perforation. In 3 patients NEC successfully managed before surgical correction of the congenital heart defect dramatically relapsed in the postoperative period. 2 patients showed intestinal mucormycosis, an entity not clearly differentiated from NEC. Due to progressed disease at diagnosis all patients required extensive surgical procedures; 2 of them subsequently died.In the postoperative situation after surgical correction of a congenital heart defect diagnosis of NEC might be challenging. The general condition of these children complicates clinical examination and characteristic radiologic signs are absent. Late diagnosis and exclusive pathogens cause high morbidity and mortality.
Posttraumatic hepatic artery pseudoaneurysms are a rare but life-threatening complication of blun... more Posttraumatic hepatic artery pseudoaneurysms are a rare but life-threatening complication of blunt abdominal trauma with liver damage. We report the case of a child who developed a pseudoaneurysm of the right hepatic artery after a bicycle accident with central liver rupture. After an episode of hemodynamically relevant hemobilia due to delayed bleeding, the asymptomatic pseudoaneurysm was diagnosed coincidentally by ultrasound. Because of the progression in size angiographic coiling was performed and led to thrombotic occlusion of the pseudoaneurysm. After a symptom-free period of 1 month the child required surgery because of acute cholecystitis.
Ultraschall in der Medizin - European Journal of Ultrasound, 2012
We correlate severe bowel damage in gastroschisis to the rare intrauterine event of narrowing of ... more We correlate severe bowel damage in gastroschisis to the rare intrauterine event of narrowing of the abdominal wall around the protruding intestines. We describe this "closing gastroschisis" as a distinct entity. Prenatal ultrasound findings as gastric or bowel dilation were compared to the postnatal findings in order to find markers for an early in utero diagnosis of closing gastroschisis. Early diagnosis could prompt timely delivery to save the compromised bowel and avoid short gut syndrome. We documented the pre- and postnatal course of our patients with gastroschisis from 2007 to 2009. Closing gastroschisis was suspected antenatally and confirmed postnatally. We identified 5 out of 18 patients showing closure of the abdominal wall with varying degrees of bowel damage. Prenatal ultrasound findings were correlated to the postnatally confirmed extent of intestinal damage. We could not find consistent ultrasound markers for prenatal diagnosis of closing gastroschisis. In prenatal ultrasound three patients presented significant gastric dilation and then experienced severe courses postnatally due to segmental gut necrosis. One of these three died and the other two developed short gut syndrome. In one case progressive intraabdominal loop dilation with simultaneous shrinking of the extraabdominal loops occurred corresponding to closing gastroschisis with segmental midgut necrosis. Closing gastroschisis must be seen as a special form of gastroschisis. Extended intestinal damage is often life-threatening. In longitudinal observation dynamics of fetal ultrasound findings can lead to the diagnosis of closing gastroschisis. Progressive intraabdominal loop dilation is always highly suspicious and must lead to close follow-up and timely delivery.
Various different regimes exist for the treatment of hereditary pancreatitis in childhood. Here, ... more Various different regimes exist for the treatment of hereditary pancreatitis in childhood. Here, we propose a therapeutic pathway with emphasis on endoscopic and surgical procedures. From 2006 to 2013, 12 patients with a diagnosis of hereditary pancreatitis were prospectively included in a therapeutic step-up schema. The treatment outcome was evaluated and correlated to aetiological factors and pathoanatomic findings. After diagnostic work-up (laboratory data, ultrasound examination, magnetic resonance cholangiopancreatography and genetic testing), all 12 patients underwent early endoscopic retrograde cholangiopancreatography (ERCP), which was successfully performed in ten children. Obstructive pancreatitis was found in eight children, and required sphincterotomy, dilation and stenting for 12months. In two children with unsuccessful ERCP, open surgical drainage procedures were performed. After a mean follow-up of 32months all children are free of recurrence of pancreatitis without any impairment of everyday activities. For children with hereditary pancreatitis, a therapeutic step plan with early ERCP and open surgical drainage procedures in case of impossible or insufficient endoscopic treatment prevents recurring pancreatitis and offers a normal quality of life without any major complications.
Chest X-ray in a 17-year-old boy, presenting with haemoptysis, revealed a radiopaque foreign body... more Chest X-ray in a 17-year-old boy, presenting with haemoptysis, revealed a radiopaque foreign body (FB) in the right lower lobe. There was no history of aspiration. CT located the needle-shaped FB in the right posterobasal lower lobe segment bronchus. In bronchoscopy, the FB turned out to be a pin, of which the radiolucent plastic head was embedded in the peribronchial tissue. Extraction by flexible and rigid bronchoscopy failed; finally, thoracotomy and bronchotomy had to be performed to remove the pin. In delayed diagnosis of a tracheobronchial FB, CT scan is not only necessary to localise the FB but also to depict or rule out secondary pulmonary changes. Nevertheless, radiolucent components of a metallic FB might be invisible even in CT, leading to underestimation of its size and extension. Late diagnosis complicates removal of tracheobronchial foreign bodies and may even necessitate open surgery, including pulmonary resections.
Costello syndrome is a rare congenital disease with typical craniofacial and musculoskeletal feat... more Costello syndrome is a rare congenital disease with typical craniofacial and musculoskeletal features, cutaneous lesions, cardiac defects and cancer susceptibility. Affected patients show severe feeding difficulties for the first years of life and developmental delay. We present the case of a patient, in whom fetal tachycardia, polyhdramnios and physical characteristics led to an early diagnosis of Costello syndrome. Based on this patient we describe challenges and problems of therapeutic management of infants with Costello syndrome.
ABSTRACT Der intrauterine segmentale Volvulus der ,,Midgut“-Schleife ist eine seltene, bisweilen ... more ABSTRACT Der intrauterine segmentale Volvulus der ,,Midgut“-Schleife ist eine seltene, bisweilen lebensbedrohliche Erkrankung des Fetus und des Neugeborenen. Im Gegensatz zum klassischen Volvulus des Neugeborenen liegt in der Regel keine Lageanomalie des Darms vor. Das Fehlen der charakteristischen klinischen Zeichen wie Duodenalobstruktion, ,,whirl sign“ oder grünes Erbrechen macht die Diagnosestellung schwierig. Es wird über den Fall eines intrauterinen segmentalen Midgut-Volvulus berichtet, der perinatal durch Hydrops fetalis, Aszites und Anämie aufgefallen war. Intraoperativ fand sich eine Atresie des terminalen Ileums mit V-förmigem Mesenteriumdefekt. Durch diesen war es zu einem segmentalen Volvulus des vorgeschalteten Darms mit hämorrhagischer Infarzierung und Perforation gekommen. Die Einblutung in den Darm war für die Ausbildung der Anämie verantwortlich. Im Fall von ausgeprägtem Aszites, Hydrops fetalis und Anämie sollte ein segmentaler Midgut-Volvulus in Betracht gezogen werden. Das Wissen um die spezielle Pathologie dieser Erkrankung ermöglicht eine bessere Planung des perinatalen Managements.
Zusammenfassung Die CMCC-Läsion (CMCC: „congenital midline cervical cleft“, mediane Halsspalte) ... more Zusammenfassung Die CMCC-Läsion (CMCC: „congenital midline cervical cleft“, mediane Halsspalte) ist zwischen Kinn und suprasternaler Region, am häufigsten knapp unterhalb der Schilddrüsenregion, lokalisiert. Typisch ist ein Hautnippel am oberen Pol, dem eine rötliche Hautrinne und am unteren Abschnitt ein Sinusgang folgen. Unter dieser oberflächlichen Hautveränderung findet sich ein derber, fibröser Strang. Aus kosmetischen Gründen, des mit zunehmendem Alter steigenden Risikos einer
Neonates with congenital heart disease are at risk to develop necrotizing enterocolitis (NEC). Es... more Neonates with congenital heart disease are at risk to develop necrotizing enterocolitis (NEC). Especially in the postoperative period after correction of a congenital heart defect this intestinal inflammatory disease can be a potentially life-threatening complication. The purpose of this case series is to define the specific features of NEC in the postoperative situation, with emphasis on diagnostic difficulties.Medical records of neonates developing severe NEC in the postoperative period after surgical correction of a congenital heart defect from 2008 to 2011 were reviewed and compared.7 neonates with NEC after surgical correction of a congenital heart defect were identified. In all 7 patients typical radiologic findings of NEC were missing. Diagnosis was late in all 7 cases; 5 patients already had intestinal perforation. In 3 patients NEC successfully managed before surgical correction of the congenital heart defect dramatically relapsed in the postoperative period. 2 patients showed intestinal mucormycosis, an entity not clearly differentiated from NEC. Due to progressed disease at diagnosis all patients required extensive surgical procedures; 2 of them subsequently died.In the postoperative situation after surgical correction of a congenital heart defect diagnosis of NEC might be challenging. The general condition of these children complicates clinical examination and characteristic radiologic signs are absent. Late diagnosis and exclusive pathogens cause high morbidity and mortality.
Posttraumatic hepatic artery pseudoaneurysms are a rare but life-threatening complication of blun... more Posttraumatic hepatic artery pseudoaneurysms are a rare but life-threatening complication of blunt abdominal trauma with liver damage. We report the case of a child who developed a pseudoaneurysm of the right hepatic artery after a bicycle accident with central liver rupture. After an episode of hemodynamically relevant hemobilia due to delayed bleeding, the asymptomatic pseudoaneurysm was diagnosed coincidentally by ultrasound. Because of the progression in size angiographic coiling was performed and led to thrombotic occlusion of the pseudoaneurysm. After a symptom-free period of 1 month the child required surgery because of acute cholecystitis.
Ultraschall in der Medizin - European Journal of Ultrasound, 2012
We correlate severe bowel damage in gastroschisis to the rare intrauterine event of narrowing of ... more We correlate severe bowel damage in gastroschisis to the rare intrauterine event of narrowing of the abdominal wall around the protruding intestines. We describe this "closing gastroschisis" as a distinct entity. Prenatal ultrasound findings as gastric or bowel dilation were compared to the postnatal findings in order to find markers for an early in utero diagnosis of closing gastroschisis. Early diagnosis could prompt timely delivery to save the compromised bowel and avoid short gut syndrome. We documented the pre- and postnatal course of our patients with gastroschisis from 2007 to 2009. Closing gastroschisis was suspected antenatally and confirmed postnatally. We identified 5 out of 18 patients showing closure of the abdominal wall with varying degrees of bowel damage. Prenatal ultrasound findings were correlated to the postnatally confirmed extent of intestinal damage. We could not find consistent ultrasound markers for prenatal diagnosis of closing gastroschisis. In prenatal ultrasound three patients presented significant gastric dilation and then experienced severe courses postnatally due to segmental gut necrosis. One of these three died and the other two developed short gut syndrome. In one case progressive intraabdominal loop dilation with simultaneous shrinking of the extraabdominal loops occurred corresponding to closing gastroschisis with segmental midgut necrosis. Closing gastroschisis must be seen as a special form of gastroschisis. Extended intestinal damage is often life-threatening. In longitudinal observation dynamics of fetal ultrasound findings can lead to the diagnosis of closing gastroschisis. Progressive intraabdominal loop dilation is always highly suspicious and must lead to close follow-up and timely delivery.
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Papers by S. Kargl