Manuela Siekmeyer

Acute cerebral infarction and extra pontine myelinolysis in children with new onset type 1 diabetes mellitus

Petzold S, Kapellen T, Siekmeyer M, Hirsch W, Bartelt H, Siekmeyer W, Kiess W. Acute cerebral infarction and extra pontine myelinolysis in children with new onset type 1 diabetes mellitus.

Combined heterotopic liver-pancreas transplantation as a curative treatment for liver cirrhosis and diabetes mellitus in cystic fibrosis.

Cystic fibrosis (CF) is an inherited disease with a defect in epithelial chloride transport that results in a multisystem disease. Although pulmonary disease remains the primary cause of morbidity and mortality, focal biliary cirrhosis and portal hypertension may develop in up to 8% of these patients. Liver transplantation (TX) is an accepted therapy and shows good results. We report on a patient with cystic fibrosis homozygous for the most common CFTR mutation delta F 508 who received a combined heterotopic liver and pancreas transplantation at the age of 18 yr. He suffered from CFRD, which untypically required high doses of insulin. In addition, the patient had pulmonary complications, was chronically colonized with multiresistant Pseudomonas aeruginosa (MBL) and had an allergic bronchopulmonary aspergillosis (ABPA). The patient remained in stable health for 54 months post‐TX and was able to live a nearly normal life. With a follow‐up of five yr, the function of the liver and pancreas allografts was excellent. However, and sadly, his pulmonary function continued to deteriorate from progression of his CF, and he died of respiratory failure due to a severe pneumonia and septicemia at the age of 23 yr and five months.

Retrospektive Analyse von 44 Ertrinkungsunfällen von Kindern und Jugendlichen

BACKGROUND Worldwide, drowning is the second leading cause of unintentional death and the leading cause of cardiovascular failure for children [1-3]. The number of near-drownings, where the incident is survived for at least 24 hours, is assumed to be four times as high [5]. In the years 1994 until 2008 there were 44 cases of drowning treated at the childrens department of the University of Leipzig. This number shows that even in a medical centre drowning incidents are only occasional incidents. Therefore it is important to know the sequelae and handlings to be able to react in case of an emergency. PATIENTS A total of 44 children suffering a drowning accident within the last 48 hours who were treated during the period of 01.01.1994 through 30.06.2008 at the Childrens Centre at the University of Leipzig. METHODS A retrospective analysis using a structured questionnaire was done. Social demographic data, accident progress, clinical results and progress as well as outcome of the cases were investigated. RESULTS During the analysed period in the median three children were treated each year after drowning incidents. Clustering in the summer and winter months and on the weekends was recognizable. The median age was 3.33 years and the group of high risk were children aged 1-3 years, especially boys. Sixty percent of the children came from stable social backgrounds. Half of the children suffered from drowning in created swimming pools or ponds, the rest in natural waters, public pools and sources of water in the household. The median submersion lasted 2 minutes. Correlation of submersions below 1 minute with a good, and submersions above 10 minutes with a negative outcome was shown. A Glasgow Coma Scale (GCS) of 3 points (n = 15) and pupils without light reaction (n = 14) were associated with a lethal outcome or residual neurological deficits. Looking at the laboratory values, correlation between severe acidotic pH-values with a very low base excess, high blood sugar as well as high lactate values and a poor outcome is revealed. Six patients died within the first 24 hours, 6 more over the course suffering organ failure or brain death. Five children retained neurological damages. Twenty-seven children could be released from the clinic healthily. CONCLUSION The risk of suffering a drowning incident is highest for boys aged 1-3 years, playing in the yard by themselves. Prognosis is depending on multiple factors and especially the circumstances of the accident. High influence is seen in the time of submersion and the need for cardiopulmonary resuscitation. Clinics and laboratory values at the time of hospital admittance may hint to the outcome. Basic life support at the scene of the accident has the highest impact on the outcome. Training of parents and supervisors in prevention and first aid after drowning incidents can avoid accidents.SummaryBACKGROUND: Worldwide, drowning is the second leading cause of unintentional death and the leading cause of cardiovascular failure for children [1–3]. The number of near-drownings, where the incident is survived for at least 24 hours, is assumed to be four times as high [5]. In the years 1994 until 2008 there were 44 cases of drowning treated at the childrens department of the University of Leipzig. This number shows that even in a medical centre drowning incidents are only occasional incidents. Therefore it is important to know the sequelae and handlings to be able to react in case of an emergency. PATIENTS: A total of 44 children suffering a drowning accident within the last 48 hours who were treated during the period of 01.01.1994 through 30.06.2008 at the Childrens Centre at the University of Leipzig. METHODS: A retrospective analysis using a structured questionnaire was done. Social demographic data, accident progress, clinical results and progress as well as outcome of the cases were investigated. RESULTS: During the analysed period in the median three children were treated each year after drowning incidents. Clustering in the summer and winter months and on the weekends was recognizable. The median age was 3.33 years and the group of high risk were children aged 1–3 years, especially boys. Sixty percent of the children came from stable social backgrounds. Half of the children suffered from drowning in created swimming pools or ponds, the rest in natural waters, public pools and sources of water in the household. The median submersion lasted 2 minutes. Correlation of submersions below 1 minute with a good, and submersions above 10 minutes with a negative outcome was shown. A Glasgow Coma Scale (GCS) of 3 points (n = 15) and pupils without light reaction (n = 14) were associated with a lethal outcome or residual neurological deficits. Looking at the laboratory values, correlation between severe acidotic pH-values with a very low base excess, high blood sugar as well as high lactate values and a poor outcome is revealed. Six patients died within the first 24 hours, 6 more over the course suffering organ failure or brain death. Five children retained neurological damages. Twenty-seven children could be released from the clinic healthily. CONCLUSION: The risk of suffering a drowning incident is highest for boys aged 1–3 years, playing in the yard by themselves. Prognosis is depending on multiple factors and especially the circumstances of the accident. High influence is seen in the time of submersion and the need for cardiopulmonary resuscitation. Clinics and laboratory values at the time of hospital admittance may hint to the outcome. Basic life support at the scene of the accident has the highest impact on the outcome. Training of parents and supervisors in prevention and first aid after drowning incidents can avoid accidents.ZusammenfassungHINTERGRUND: Ertrinken gilt weltweit als die zweithäufigste nicht-natürliche Todesursache bei Kindern sowie als die häufigste Ursache eines Herz-Kreislaufstillstandes im Kindes- und Jugendalter [1–3]. Die Zahl der Fälle von Beinahe-Ertrinken, bei dem der Ertrinkungsunfall mindestens 24 Stunden überlebt wird, wird auf etwa das Vierfache geschätzt [5]. In den Jahren 1994 bis 2008 wurden an der Universitätsklinik für Kinder und Jugendliche Leipzig 44 Patienten nach Ertrinkungsunfall behandelt. Dies zeigt, dass auch in einem Zentrum der Maximalversorgung die Behandlung von Ertrinkungsunfällen nur in Einzelfällen vorkommt. Umso wichtiger ist es, die möglichen Folgen und Handlungsabläufe zu kennen, um im Notfall richtig handeln zu können. PATIENTEN: 44 Kinder mit durchgemachtem Ertrinkungsunfall innerhalb der letzten achtundvierzig Stunden, die im Zeitraum 01.01.1994 bis 30.06.2008 an der Universitätsklinik für Kinder und Jugendliche der Universität Leipzig behandelt wurden. METHODIK: Es erfolgte eine retrospektive Analyse mit einem strukturierten Fragebogen. Soziodemographische Daten, Unfallhergang, erhobene Untersuchungsbefunde sowie klinischer Verlauf und Outcome wurden untersucht. ERGEBNISSE: Im Median wurden 3 Kinder pro Jahr nach Ertrinkungsunfall behandelt. Es ist eine Häufung der Fälle in den Sommer- und den Wintermonaten sowie an den Wochenenden zu erkennen. Der Altersmedian betrug 3,33 Jahre und die Hochrisikogruppe stellten die Ein- bis Dreijährigen, vorzugsweise Jungen, dar. 60 % der Kinder stammten aus stabilen sozialen Verhältnissen. Die Hälfte der Kinder verunglückte an künstlich angelegten Gewässern wie Pools und Gartenteichen, der Rest der Gruppe in natürlichen Gewässern, Schwimmbädern oder Wasserquellen im Haushalt. Die mediane Submersionszeit betrug 2 Minuten. Eine Submersionszeit von unter 1 Minute korrelierte mit einem guten und von über 10 Minuten mit einem schlechten Outcome. Eine Glasgow Coma Scale (GCS) von 3 Punkten (n = 15) sowie lichtstarre Pupillen (n = 14) waren mit einem letalen Ausgang oder dem Zurückbleiben neurologischer Defizite assoziiert. Es ergab sich eine Korrelation zwischen schwer azidotischen pH-Werten mit einem niedrigen Base Excess, hohen Glukose- sowie Laktatwerten und einer negativen Prognose. 6 Patienten verstarben innerhalb der ersten 24 Stunden, 6 weitere im stationären Verlauf durch Organversagen oder Hirntod. 5 Kinder behielten neurologische Folgeschäden zurück. 27 Kinder konnten gesund entlassen werden. SCHLUSSFOLGERUNG: Das höchste Risiko einen Ertrinkungsunfall zu erleiden haben Jungen im Alter zwischen 1 und 3 Jahren, die alleine im Garten spielen. Die Prognose ist von den jeweiligen Unfallumständen abhängig, wobei Submersionszeit und initiale Reanimationspflichtigkeit einen besonderen prädiktiven Aussagewert haben. Klinik und Laborwerte bei Ankunft in der Klinik sind ebenfalls hinweisgebend für das Outcome. Die Erstversorgung am Unfallort ist ausschlaggebend für den Ausgang der Fälle. Schulungen von Eltern und Betreuern zu Prävention und Erster Hilfe bei Ertrinkungsunfällen könnten dazu beitragen Unfälle zu verhindern.

Retrospective analysis of 44 childhood drowning accidents

BACKGROUND Worldwide, drowning is the second leading cause of unintentional death and the leading cause of cardiovascular failure for children [1-3]. The number of near-drownings, where the incident is survived for at least 24 hours, is assumed to be four times as high [5]. In the years 1994 until 2008 there were 44 cases of drowning treated at the childrens department of the University of Leipzig. This number shows that even in a medical centre drowning incidents are only occasional incidents. Therefore it is important to know the sequelae and handlings to be able to react in case of an emergency. PATIENTS A total of 44 children suffering a drowning accident within the last 48 hours who were treated during the period of 01.01.1994 through 30.06.2008 at the Childrens Centre at the University of Leipzig. METHODS A retrospective analysis using a structured questionnaire was done. Social demographic data, accident progress, clinical results and progress as well as outcome of the cases were investigated. RESULTS During the analysed period in the median three children were treated each year after drowning incidents. Clustering in the summer and winter months and on the weekends was recognizable. The median age was 3.33 years and the group of high risk were children aged 1-3 years, especially boys. Sixty percent of the children came from stable social backgrounds. Half of the children suffered from drowning in created swimming pools or ponds, the rest in natural waters, public pools and sources of water in the household. The median submersion lasted 2 minutes. Correlation of submersions below 1 minute with a good, and submersions above 10 minutes with a negative outcome was shown. A Glasgow Coma Scale (GCS) of 3 points (n = 15) and pupils without light reaction (n = 14) were associated with a lethal outcome or residual neurological deficits. Looking at the laboratory values, correlation between severe acidotic pH-values with a very low base excess, high blood sugar as well as high lactate values and a poor outcome is revealed. Six patients died within the first 24 hours, 6 more over the course suffering organ failure or brain death. Five children retained neurological damages. Twenty-seven children could be released from the clinic healthily. CONCLUSION The risk of suffering a drowning incident is highest for boys aged 1-3 years, playing in the yard by themselves. Prognosis is depending on multiple factors and especially the circumstances of the accident. High influence is seen in the time of submersion and the need for cardiopulmonary resuscitation. Clinics and laboratory values at the time of hospital admittance may hint to the outcome. Basic life support at the scene of the accident has the highest impact on the outcome. Training of parents and supervisors in prevention and first aid after drowning incidents can avoid accidents.SummaryBACKGROUND: Worldwide, drowning is the second leading cause of unintentional death and the leading cause of cardiovascular failure for children [1–3]. The number of near-drownings, where the incident is survived for at least 24 hours, is assumed to be four times as high [5]. In the years 1994 until 2008 there were 44 cases of drowning treated at the childrens department of the University of Leipzig. This number shows that even in a medical centre drowning incidents are only occasional incidents. Therefore it is important to know the sequelae and handlings to be able to react in case of an emergency. PATIENTS: A total of 44 children suffering a drowning accident within the last 48 hours who were treated during the period of 01.01.1994 through 30.06.2008 at the Childrens Centre at the University of Leipzig. METHODS: A retrospective analysis using a structured questionnaire was done. Social demographic data, accident progress, clinical results and progress as well as outcome of the cases were investigated. RESULTS: During the analysed period in the median three children were treated each year after drowning incidents. Clustering in the summer and winter months and on the weekends was recognizable. The median age was 3.33 years and the group of high risk were children aged 1–3 years, especially boys. Sixty percent of the children came from stable social backgrounds. Half of the children suffered from drowning in created swimming pools or ponds, the rest in natural waters, public pools and sources of water in the household. The median submersion lasted 2 minutes. Correlation of submersions below 1 minute with a good, and submersions above 10 minutes with a negative outcome was shown. A Glasgow Coma Scale (GCS) of 3 points (n = 15) and pupils without light reaction (n = 14) were associated with a lethal outcome or residual neurological deficits. Looking at the laboratory values, correlation between severe acidotic pH-values with a very low base excess, high blood sugar as well as high lactate values and a poor outcome is revealed. Six patients died within the first 24 hours, 6 more over the course suffering organ failure or brain death. Five children retained neurological damages. Twenty-seven children could be released from the clinic healthily. CONCLUSION: The risk of suffering a drowning incident is highest for boys aged 1–3 years, playing in the yard by themselves. Prognosis is depending on multiple factors and especially the circumstances of the accident. High influence is seen in the time of submersion and the need for cardiopulmonary resuscitation. Clinics and laboratory values at the time of hospital admittance may hint to the outcome. Basic life support at the scene of the accident has the highest impact on the outcome. Training of parents and supervisors in prevention and first aid after drowning incidents can avoid accidents.ZusammenfassungHINTERGRUND: Ertrinken gilt weltweit als die zweithäufigste nicht-natürliche Todesursache bei Kindern sowie als die häufigste Ursache eines Herz-Kreislaufstillstandes im Kindes- und Jugendalter [1–3]. Die Zahl der Fälle von Beinahe-Ertrinken, bei dem der Ertrinkungsunfall mindestens 24 Stunden überlebt wird, wird auf etwa das Vierfache geschätzt [5]. In den Jahren 1994 bis 2008 wurden an der Universitätsklinik für Kinder und Jugendliche Leipzig 44 Patienten nach Ertrinkungsunfall behandelt. Dies zeigt, dass auch in einem Zentrum der Maximalversorgung die Behandlung von Ertrinkungsunfällen nur in Einzelfällen vorkommt. Umso wichtiger ist es, die möglichen Folgen und Handlungsabläufe zu kennen, um im Notfall richtig handeln zu können. PATIENTEN: 44 Kinder mit durchgemachtem Ertrinkungsunfall innerhalb der letzten achtundvierzig Stunden, die im Zeitraum 01.01.1994 bis 30.06.2008 an der Universitätsklinik für Kinder und Jugendliche der Universität Leipzig behandelt wurden. METHODIK: Es erfolgte eine retrospektive Analyse mit einem strukturierten Fragebogen. Soziodemographische Daten, Unfallhergang, erhobene Untersuchungsbefunde sowie klinischer Verlauf und Outcome wurden untersucht. ERGEBNISSE: Im Median wurden 3 Kinder pro Jahr nach Ertrinkungsunfall behandelt. Es ist eine Häufung der Fälle in den Sommer- und den Wintermonaten sowie an den Wochenenden zu erkennen. Der Altersmedian betrug 3,33 Jahre und die Hochrisikogruppe stellten die Ein- bis Dreijährigen, vorzugsweise Jungen, dar. 60 % der Kinder stammten aus stabilen sozialen Verhältnissen. Die Hälfte der Kinder verunglückte an künstlich angelegten Gewässern wie Pools und Gartenteichen, der Rest der Gruppe in natürlichen Gewässern, Schwimmbädern oder Wasserquellen im Haushalt. Die mediane Submersionszeit betrug 2 Minuten. Eine Submersionszeit von unter 1 Minute korrelierte mit einem guten und von über 10 Minuten mit einem schlechten Outcome. Eine Glasgow Coma Scale (GCS) von 3 Punkten (n = 15) sowie lichtstarre Pupillen (n = 14) waren mit einem letalen Ausgang oder dem Zurückbleiben neurologischer Defizite assoziiert. Es ergab sich eine Korrelation zwischen schwer azidotischen pH-Werten mit einem niedrigen Base Excess, hohen Glukose- sowie Laktatwerten und einer negativen Prognose. 6 Patienten verstarben innerhalb der ersten 24 Stunden, 6 weitere im stationären Verlauf durch Organversagen oder Hirntod. 5 Kinder behielten neurologische Folgeschäden zurück. 27 Kinder konnten gesund entlassen werden. SCHLUSSFOLGERUNG: Das höchste Risiko einen Ertrinkungsunfall zu erleiden haben Jungen im Alter zwischen 1 und 3 Jahren, die alleine im Garten spielen. Die Prognose ist von den jeweiligen Unfallumständen abhängig, wobei Submersionszeit und initiale Reanimationspflichtigkeit einen besonderen prädiktiven Aussagewert haben. Klinik und Laborwerte bei Ankunft in der Klinik sind ebenfalls hinweisgebend für das Outcome. Die Erstversorgung am Unfallort ist ausschlaggebend für den Ausgang der Fälle. Schulungen von Eltern und Betreuern zu Prävention und Erster Hilfe bei Ertrinkungsunfällen könnten dazu beitragen Unfälle zu verhindern.

Citric acid as the last therapeutic approach in an acute life-threatening metabolic decompensation of propionic acidaemia

Abstract The tricarboxylic acid (TCA) cycle represents the key enzymatic steps in cellular energy metabolism. Once the TCA cycle is impaired in case of inherited metabolic disorders, life-threatening episodes of metabolic decompensation and severe organ failure can arise. We present the case of a 6 ½-year-old girl with propionic acidaemia during an episode of acute life-threatening metabolic decompensation and severe lactic acidosis. Citric acid given as an oral formulation showed the potential to sustain the TCA cycle flux. This therapeutic approach may become a treatment option in a situation of acute metabolic crisis, possibly preventing severe disturbance of energy metabolism.

Possible pulmonary Rhizopus oryzae infection in a previously healthy child after a near-drowning incident

This article reports on a previously healthy 17-month-old boy who developed pulmonary mucormycosis after a near-drowning incident in a goose pond. The patient survived without neurological sequelae and recovered, under treatment with amphotericin B, from the rare and often invasive fungal infection with Rhizopus spp., usually occurring in immunodeficient patients.

Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: phenotypic and genotypic findings.

Constitutional partial trisomy 11q in man mostly occurs in combination with partial trisomy 22 due to a balanced parental translocation t(11;22). Occasionally a chromosome other than 22 is involved in the parental translocation with chromosome 11, resulting in partial monosomy for the other participating chromosome. We report of a patient with partial trisomy 11q and partial monosomy 10p [46,XX,der(10)t(10;11)(p15;q22)] due to a paternal balanced translocation [46,XY,t(10;11)(p15;q22)]. Array CGH showed heterozygosity for a deletion of ∼3.46 Mb at 10p15.3p15.2 and gain of ∼32.21 Mb at 11q22.2q25. The patient, a 19‐year‐old woman, has a multiple congenital anomaly syndrome with severe developmental and growth delay, muscular hypotonia, iris coloboma, abnormal external ears, widely spaced nipples, atrial septum defect, clubfoot, and arthrogryposis multiplex congenita. Despite multiple health problems and numerous hospitalizations due to massive seizures, pulmonary insufficiency and recurrent infections the patient reached adulthood. The clinical features in our patient are compared to other cases reported in the literature of either partial monosomy 10p or partial trisomy 11q. To the best of our knowledge, this is the first report of the combination of partial trisomy 11q and partial monosomy 10p. Comparing the molecular karyotype and the phenotype of our patient to other patients, the clinical features of our patient are more likely due to partial trisomy 11q than to partial monosomy 10p.

A 33-year-old male patient with paternal derived duplication of 14q11.2-14q22.1~22.3: clinical course, phenotypic and genotypic findings.

Abstract We report on a 33-year-old patient with mosaic interstitial duplication on chromosome 14q11.2–14q22.1~22.3 with severe physical and mental retardation and multiple dysmorphisms. This patient was admitted to our pediatric hospital due to severe dehydration and malnutrition as a result of food refusal. It is an actual phenomenon that patients with severe inborn clinical problems nowadays survive due to progress and care of modern medicine. Nevertheless, transition from pediatric care to adult medicine seems to remain a challenging problem. We demonstrate the clinical course as well as clinical and genetic findings of this adult patient. Comparisons are made to previously reported cases with mosaic trisomy 14 involving a proximal interstitial duplication on the long arm of chromosome 14.

Fulminant and fatal course of acute lymphoblastic leukemia due to lactic acidosis and suspected abdominal compartment syndrome.

Acute lymphoblastic leukemia (ALL) is the most common childhood malignancy and its prognosis has considerably improved over the past 2 decades due to new therapeutic approaches. In some cases, however, it can develop very rapidly and cause possibly fatal complications. We report on the case of an 11-year-old boy with ALL, who rapidly developed severe lactic acidosis and abdominal compartment syndrome. He died of multiorgan failure only 5 days after diagnosis of ALL had been established. Autopsy revealed systemic leukemic infiltrations. We suppose that the mass of tumor cells induced a cascade of metabolic and endocrine reactions, which not only triggered the rapid progression of the disease but were also accountable for the lack of response to treatment. The pathophysiology of abdominal compartment syndrome as a rare and in our case ultimately fatal complication of ALL is described.

Glans Ischemia after Circumcision in a 16-Year-Old Boy: Full Recovery after Angiography with Local Spasmolysis, Systemic Vasodilatation, and Anticoagulation

Circumcision is one of the most frequent procedures performed by pediatric surgeons. A dorsal penile nerve block (DPNB) is commonly used for perioperative analgesia. We report the case of a 16-year-old boy with ischemia of the glans who presented on the first postoperative day after circumcision under DPNB (0.25% bupivacaine) at an outside hospital. The patient underwent immediate angiography under sedation. An intra-arterial spasmolysis was performed with alprostadil and nitroglycerine and a sufficient perfusion of the glans penis was confirmed. Subsequently, systemic sildenafil, arginine, and heparin were given. Following this 3-day medical treatment, ischemia resolved completely. Our case emphasizes the role of invasive angiography in the diagnostic workup and the therapeutic possibilities of local spasmolysis, systemic vasodilatation, and anticoagulation.