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1.
Rev Sci Instrum ; 87(5): 053116, 2016 05.
Article in English | MEDLINE | ID: mdl-27250401

ABSTRACT

We report about the development and implementation of a new setup for time-resolved X-ray absorption fine structure spectroscopy at beamline P11 utilizing the outstanding source properties of the low-emittance PETRA III synchrotron storage ring in Hamburg. Using a high intensity micrometer-sized X-ray beam in combination with two positional feedback systems, measurements were performed on the transition metal complex fac-Tris[2-phenylpyridinato-C2,N]iridium(III) also referred to as fac-Ir(ppy)3. This compound is a representative of the phosphorescent iridium(III) complexes, which play an important role in organic light emitting diode (OLED) technology. The experiment could directly prove the anticipated photoinduced charge transfer reaction. Our results further reveal that the temporal resolution of the experiment is limited by the PETRA III X-ray bunch length of ∼103 ps full width at half maximum (FWHM).

5.
Acta Paediatr ; 99(7): 1005-10, 2010 Jul.
Article in English | MEDLINE | ID: mdl-20219035

ABSTRACT

OBJECTIVE: To describe symptoms, disease manifestations and outcome of invasive pneumococcal disease in children prior to implementation of the pneumococcal vaccine. PATIENTS AND METHODS: Analysis of children younger than 16 years of age with invasive pneumococcal disease (IPD; n = 119). Children with culture-confirmed IPD, without underlying illness at risk for invasive disease, were included. RESULTS: IPD in 90 children (age: median 2, mean 3.2 years) included 15 with meningitis, 16 with septicaemia, 14 with bacteraemia, 24 with pneumonia and 21 with skin, bone and joint infections. Symptoms of IPD most often described were fever and gastrointestinal symptoms (abdominal pain, vomiting, or diarrhoea), and coughing. More than 90% of children with pneumonia were coughing. Most importantly, clinical signs significantly predictive for severe IPD included tachycardia for sepsis, tachypnea for pneumonia, and meningeal signs for meningitis. Leukocyte, neutrophil and platelet counts were lower and C-reactive protein concentrations were higher on admission in children with complicated than in children with uncomplicated IPD but, due to wide overlap of these numbers, the difference was not of prognostic help to predict clinical course and outcome. Overall, 40% of children with IPD manifested complications and IPD showed a mortality rate of 6.6%. CONCLUSIONS: IPD is a serious disease with a high complication rate and mortality. The clinical signs tachycardia, tachypnea, and meningism were highly predictive for severe IPD. The initial clinical presentation and laboratory evaluation were mostly unpredictable with respect to complications and outcome in contrast to the clinical signs.


Subject(s)
Pneumococcal Infections/complications , Pneumococcal Infections/mortality , Severity of Illness Index , Streptococcus pneumoniae/isolation & purification , Adolescent , Bacteremia/microbiology , Bone Diseases, Infectious/microbiology , Child , Child, Preschool , Cough/etiology , Female , Fever/etiology , Gastrointestinal Diseases/microbiology , Humans , Infant , Male , Pneumococcal Vaccines , Prognosis , Retrospective Studies , Risk Factors , Soft Tissue Infections/microbiology , Switzerland/epidemiology , Vaccines, Conjugate
6.
J Perinatol ; 29(7): 521-3, 2009 Jul.
Article in English | MEDLINE | ID: mdl-19556984

ABSTRACT

We report intrauterine subdural hemorrhage in a preterm infant delivered by cesarean section at 32 weeks following vaginal bleeding of a mother treated with low-molecular weight heparin (LMWH) for deep vein thrombosis. The subdural hematomas were partially calcified, proving antenatal occurrence. Maternal trauma during pregnancy, intrauterine infection, cerebral vascular malformation and congenital coagulopathy as known etiologies of subdural hemorrhage could be ruled out. Intrauterine subdural hemorrhage may be an exceptional complication of maternal LMWH treatment.


Subject(s)
Fetal Diseases/chemically induced , Hematoma, Subdural/chemically induced , Heparin, Low-Molecular-Weight/adverse effects , Pregnancy Complications, Hematologic/drug therapy , Venous Thrombosis/drug therapy , Cesarean Section , Female , Humans , Infant, Newborn , Infant, Premature , Male , Pregnancy
7.
Pediatr Cardiol ; 26(5): 595-600, 2005.
Article in English | MEDLINE | ID: mdl-15690237

ABSTRACT

Cardiopulmonary bypass (CPB) is associated with a systemic inflammatory response. Pre-bypass steroid administration may modulate the inflammatory response, resulting in improved postoperative recovery. We performed a prospective study in the departments of cardiovascular surgery and pediatric intensive care medicine of two university hospitals that included 50 infants who underwent heart surgery. Patients received either prednisolone (30 mg/kg) added to the priming solution of the cardiopulmonary bypass circuit (steroid group) or no steroids (nonsteroid group). Clinical outcome parameters include therapy with inotropic drugs, oxygenation, blood lactate, glucose, and creatinine, and laboratory parameters of inflammation include leukocytes, C-reactive protein, and interleukin-8. Postoperative recovery (e.g., the number, dosage, and duration of inotropic drugs as well as oxygenation) was similar in patients treated with or without steroids when corrected for the type of cardiac surgery performed. After CPB, there was an inflammatory reaction, especially in patients with a long CPB time. Postoperative plasma levels of interleukin-8 were correlated with the duration of CPB time (r = 0.62, p < 0.001). Administration of steroids had no significant impact on the laboratory parameters of inflammation. Administration of prednisolone into the priming solution of the CPB circuit had no measurable influence on postoperative recovery and did not suppress the inflammatory response.


Subject(s)
Anti-Inflammatory Agents/administration & dosage , Cardiopulmonary Bypass/adverse effects , Heart Defects, Congenital/surgery , Prednisolone/administration & dosage , Systemic Inflammatory Response Syndrome/prevention & control , Biomarkers/blood , C-Reactive Protein/drug effects , C-Reactive Protein/metabolism , Cardiac Surgical Procedures/methods , Child, Preschool , Creatinine/blood , Heart Defects, Congenital/blood , Humans , Infant , Interleukin-8/blood , Leukocyte Count , Neutrophils/drug effects , Neutrophils/metabolism , Prospective Studies , Systemic Inflammatory Response Syndrome/blood , Systemic Inflammatory Response Syndrome/drug therapy , Systemic Inflammatory Response Syndrome/etiology , Treatment Outcome
8.
Klin Padiatr ; 216(1): 16-20, 2004.
Article in German | MEDLINE | ID: mdl-14747965

ABSTRACT

BACKGROUND: Neonate's expression of pain lacks the ability to report pain. Several pain measures exist to assess acute pain in term and preterm neonates. The aim of the present study is to compare them with respect to their validity and reliability. METHOD: Review of the literature and a description of the measures most often cited. Additionally, the validity of the Bernese Pain Scale for Neonates (BPSN) was assessed in a department of neonatology of a university hospital. PATIENTS: Assessments of pain (n = 48) in term and preterm neonates with and without respiratory support. RESULTS: Existing pain measures are using behavioural indicators of pain (eg, facial expression, body posture, movements, and vigilance) as well as physiological indicators of pain (eg, changes in heart rate, respiratory rate, blood pressure, oxygen saturation). The used measures and their feasibility in everyday practice, the study population and the method of validation were presented. The BPSN differentiates pain from nonpain (F = 41.27, p < 0.0001) and the interrater- as well as the intrarater-reliability was high (r = 0.87 - 0.98 and r = 0.98 - 0.99, respectively). CONCLUSIONS: Assessment of acute pain in neonates should take into account the way of validation that has been performed especially with respect to the study population. The BSN is a pain measure with good validity and reliability for the assessment of pain in term and preterm neonates.


Subject(s)
Infant, Newborn/psychology , Infant, Premature/psychology , Pain Measurement/methods , Arousal , Female , Gestational Age , Humans , Infant Behavior , Male , Observer Variation , Pain Measurement/statistics & numerical data , Positive-Pressure Respiration/psychology , Psychometrics/statistics & numerical data , Reproducibility of Results , Switzerland
9.
Klin Padiatr ; 215(4): 205-7, 2003.
Article in English | MEDLINE | ID: mdl-12929009

ABSTRACT

UNLABELLED: At the age of 5 years, a boy with known multicystic dysplastic kidney disease showed signs of arterial hypertension with progress to fatal hypertensive encephalopathy. Arterial hypertension was refractory to antihypertensive therapy and the child lost consciousness. Computed tomography of the brain revealed multiple cerebral infarctions. Doppler ultrasound showed an elevation of blood flow in the main artery of the functioning kidney consistent with stenosis as a cause of hypertension. CONCLUSION: Arterial hypertension is a known complication of kidney disease. Multicystic dysplastic kidney and renal artery stenosis is a potentially fatal association. Careful evaluation and monitoring, with special emphasis on blood pressure, should be performed in children with multicystic dysplastic kidney disease.


Subject(s)
Cerebral Infarction/etiology , Hypertensive Encephalopathy/etiology , Polycystic Kidney Diseases/complications , Renal Artery Obstruction/complications , Cerebral Infarction/diagnostic imaging , Cerebral Infarction/mortality , Child, Preschool , Glasgow Coma Scale , Humans , Hypertensive Encephalopathy/diagnostic imaging , Hypertensive Encephalopathy/mortality , Male , Tomography, X-Ray Computed
10.
Eur J Pediatr ; 160(4): 263-4, 2001 Apr.
Article in English | MEDLINE | ID: mdl-11317654

ABSTRACT

Unilobar pulmonary interstitial emphysema may emerge in extremely low birth weight infants without mechanical ventilation but on continuous positive airway pressure using nasal prongs.


Subject(s)
Infant, Very Low Birth Weight , Positive-Pressure Respiration/adverse effects , Positive-Pressure Respiration/instrumentation , Pulmonary Emphysema/etiology , Female , Humans , Infant, Newborn , Pulmonary Emphysema/surgery , Risk Factors
12.
Biol Neonate ; 77(3): 168-73, 2000 Mar.
Article in English | MEDLINE | ID: mdl-10729720

ABSTRACT

Granulocyte colony-stimulating factor (G-CSF) promotes neutrophil production and enhances neutrophil function. The effects of G-CSF are mediated by binding to its receptor. Since neutrophils are an essential part of the neonatal host defense system, we studied G-CSF receptor expression in neonatal neutrophils. We determined protein and mRNA expression of G-CSF receptor in freshly isolated neutrophils from cord blood of healthy term newborns (n = 16) and of adults (n = 6) as well as the in vitro effect of supplemented recombinant human G-CSF (rhG-CSF) and tumor necrosis factor-alpha (TNF-alpha) on G-CSF receptor expression of neutrophils. Expression of G-CSF receptor on the surface of neutrophils of cord blood was significantly lower compared to adults (61 +/- 6 vs. 89 +/- 2%). G-CSF receptor mRNA transcripts of neutrophils from newborns compared to adults was lower, too (77 +/- 14 vs. 152 +/- 33%). Neutrophils isolated from cord blood showed a decrease of G-CSF receptor expression within 24 h of culture. Moreover, we were able to show that supplemented rhG-CSF is necessary for maintenance of G-CSF receptor expression. TNF-alpha, however, down-regulated G-CSF receptor expression. We conclude that low protein and mRNA expression of G-CSF receptor in neutrophils of neonates compared to adults may adversely affect granulopoiesis and neutrophil functions by decreased responsiveness to G-CSF. Furthermore, G-CSF receptor expression on neutrophils was modified not only by G-CSF itself, but also by TNF-alpha.


Subject(s)
Fetal Blood/cytology , Neutrophils/metabolism , RNA, Messenger/blood , Receptors, Granulocyte Colony-Stimulating Factor/genetics , Adult , Granulocyte Colony-Stimulating Factor/pharmacology , Humans , Infant, Newborn , Neutrophils/drug effects , Receptors, Granulocyte Colony-Stimulating Factor/metabolism , Recombinant Proteins/pharmacology , Tumor Necrosis Factor-alpha/pharmacology
13.
Eur J Pediatr ; 158(6): 497-500, 1999 Jun.
Article in English | MEDLINE | ID: mdl-10378400

ABSTRACT

UNLABELLED: Neutrophils are an essential component of the human host defence system against infection. Recombinant human granulocyte colony-stimulating factor induces neutrophilia and enhances effector functions of mature neutrophils. Since the biological effects of granulocyte colony-stimulating factor (G-CSF) are mediated by its receptor, we investigated the expression of G-CSF receptor on the surface of neutrophils of term and preterm neonates (n = 22) with and without signs of infection and of healthy adults (n = 13) by flow cytometry. In healthy adults, the percentage of neutrophils expressing G-CSF receptor was higher compared to cord blood of term and preterm neonates (87% vs 53%, P < 0.05). Between 2 and 32 h of life, neonates with signs of infection showed lower values of G-CSF receptor expression compared to neonates without signs of infection (32% vs 54%, P < 0.05). No correlation was detectable between expression of G-CSF receptor and gestational age. CONCLUSION: Expression of granulocyte colony-stimulating factor receptor on neutrophils is lower than in adults. This may adversely affect granulopoiesis and neutrophil function during the neonatal period. Moreover, granulocyte colony-stimulating factor receptor expression seems to be down-regulated during neonatal infection.


Subject(s)
Infant, Newborn/immunology , Infant, Premature, Diseases/immunology , Infant, Premature/immunology , Infections/immunology , Neutrophils/metabolism , Receptors, Granulocyte Colony-Stimulating Factor/biosynthesis , Adult , Fetal Blood/immunology , Flow Cytometry , Humans
14.
Eur J Pediatr ; 158(5): 379-83, 1999 May.
Article in English | MEDLINE | ID: mdl-10333119

ABSTRACT

UNLABELLED: Diffuse infantile haemangiomatosis of the spleen is a very rare lesion. Large haemangiomas may cause trapping of platelets and coagulation disorders known as Kasabach-Merrit syndrome. We here report the case of an infant with splenic and pancreatic haemangiomatosis presenting with life-threatening thrombocytopenia, anaemia and intravascular coagulation. Diagnosis was hampered by reactive erythroblastosis and non-conclusive radiological findings. While treatment with corticosteroids was ineffective, administration of antithrombin III improved coagulation parameters. After splenectomy the child recovered promptly and has remained free of disease for 3 years to date. CONCLUSION: Occult visceral haemangiomatosis without visible cutaneous haemangiomas should be included in the differential diagnosis of thrombocytopenia, anaemia and consumption coagulopathy. Antithrombin III treatment may be considered to overcome bleeding problems in patients with Kasabach-Merrit syndrome.


Subject(s)
Anemia/etiology , Blood Coagulation Disorders/etiology , Hemangioma/diagnosis , Pancreatic Diseases/diagnosis , Splenic Neoplasms/diagnosis , Thrombocytopenia/etiology , Anemia/complications , Blood Coagulation Disorders/complications , Female , Hemangioma/pathology , Hemangioma/surgery , Humans , Infant , Pancreatectomy , Pancreatic Diseases/pathology , Pancreatic Diseases/surgery , Splenectomy , Splenic Neoplasms/pathology , Splenic Neoplasms/surgery , Syndrome , Thrombocytopenia/complications
15.
Pediatr Res ; 39(5): 843-8, 1996 May.
Article in English | MEDLINE | ID: mdl-8726239

ABSTRACT

Developmental immaturities in neonatal host defense predispose the neonates to an increased mortality rate during bacterial infections. Early diagnosis is of great clinical importance, but, especially in neonates, is sometimes very difficult. The ability to generate reactive oxygen species, the so-called respiratory burst, is essential for neutrophils to kill infectious microorganisms. Therefore, changes of respiratory burst may reflect increased susceptibility of neonates to infections and may be useful for the early detection of infections. Superoxide anion production was determined by a flow cytometric method using dihydrorhodamine 123 (DHR) as an oxidative probe after priming of neutrophils with PBS buffer (spontaneous burst), with N-formyl-methionyl-leucyl-phenylalanine (fMLP), or with Escherichia coli. During the study period, the spontaneous percentage of activated cells in whole blood as well as the percentage of activated cells in stimulation with fMLP was lower in adults (n = 100; PBS, 1.0 +/- 0.1%; fMLP, 8.3 +/- 0.9%) compared with neonates without signs of infection (n = 143). Among the latter, the percentage of activated cells (PBS and fMLP assay) varied with respect to gestational age and hours of life: lowest values were measured in preterm newborns with gestational age less than 32 wk and between 25 and 120 h of life. The same correlation to gestational age was true for total neutrophil cell counts. In neonates with increased levels of C-reactive protein during the first 5 d of life (n = 43), the percentages of activated cells after PBS and fMLP incubation were higher than those of neonates without signs of infection. The relationship of neutrophil respiratory burst and neutrophil cell counts to gestational age might reflect at least in part a reason for the increased susceptibility of neonates to infections. Furthermore, determination of respiratory burst may prove to be a new laboratory parameter of neonatal infection.


Subject(s)
C-Reactive Protein/metabolism , Infant, Newborn/blood , Infant, Premature/blood , Neutrophils/metabolism , Respiratory Burst , Adult , Bacterial Infections/blood , Bacterial Infections/etiology , Bacterial Infections/immunology , Blood Bactericidal Activity/drug effects , Escherichia coli/immunology , Humans , In Vitro Techniques , Infant, Newborn/immunology , Infant, Premature/immunology , Leukocyte Count , N-Formylmethionine Leucyl-Phenylalanine/pharmacology , Neutrophils/drug effects , Neutrophils/immunology , Respiratory Burst/drug effects
16.
Intensive Care Med ; 22(3): 252-8, 1996 Mar.
Article in English | MEDLINE | ID: mdl-8727441

ABSTRACT

INTRODUCTION: Inhaled nitric oxide (NO) may be beneficial in the treatment of pulmonary hypertension, both of the newborn and in the adult respiratory distress syndrome. Up to now, serious systemic side effects have not been reported. OBJECTIVE: The effect of inhaled NO on superoxide anion production by neutrophils. DESIGN: Prospective study of a consecutive series of 15 neonates and infants. SETTING: Neonatal and paediatric ICUs with a total of 17 beds (university hospital). MEASUREMENTS AND RESULTS: Superoxide anion production was determined by a flow cytometric method using dihydrorhodamine 123 (DHR) as an oxidative probe after the priming of neutrophils with N-formyl-methionyl- leucylphenylalanine (fMLP) or with Escherichia coli. The generated fluorescence was expressed as relative fluorescence intensity (RFI). Inhalation of NO for more than 24 h reduced the superoxide anion production by neutrophils stimulated with E. coli to below baseline values before NO inhalation (mRFI = 158 +/- 25 vs 222 +/- 24; P = 0.03). This decrease was more pronounced after more than 72 h (mRFI = 133 +/- 17). At this time, superoxide anion production by fMLP-stimulated neutrophils was also decreased (mRFI = 40 +/- 3, vs 57 +/- 5; P = 0.03). The reduced capacity of superoxide production persisted throughout therapy with NO and lasted up to more than 4 days after the end of NO inhalation. CONCLUSION: The results suggest that inhalation of NO in patients with pulmonary hypertension causes reduced superoxide anion production by neutrophils stimulated with E. coli or with fMLP. To determine the clinical importance of this systemic side effect with respect to bacterial infections, a randomized controlled study is necessary.


Subject(s)
Hypertension, Pulmonary/drug therapy , Nitric Oxide/adverse effects , Respiratory Burst/drug effects , Administration, Inhalation , Flow Cytometry , Humans , Hypertension, Pulmonary/blood , Infant , Infant, Newborn , Neutrophil Activation/drug effects , Prospective Studies , Superoxides/metabolism , Time Factors
17.
Am J Perinatol ; 12(1): 34-8, 1995 Jan.
Article in English | MEDLINE | ID: mdl-7710574

ABSTRACT

Neutropenia, as defined by common reference values, occurs often in neonates. Its incidence, causes, and clinical consequences have not been studied extensively in premature neonates. Of 208 consecutive infants with birthweight up to 2000 g, 121 (58%) had neutropenia. Low gestational age and low birthweight correlated with the incidence of neutropenia. Less than half of the neutropenic episodes could be attributed to infections, the others were related to specific perinatal events and due to drug therapy or were of unknown cause. Neutropenia following treatment with certain antibiotics was the most common cause of neutropenia occurring after the second week of life. The high incidence of neutropenia in premature neonates raises questions about application of these reference ranges to low birthweight infants and suggests the need for new reference values.


Subject(s)
Infant, Premature, Diseases/epidemiology , Neutropenia/epidemiology , Anti-Bacterial Agents/therapeutic use , Bacterial Infections/blood , Bacterial Infections/drug therapy , Female , Humans , Incidence , Infant, Low Birth Weight/blood , Infant, Newborn , Infant, Premature/blood , Infant, Premature, Diseases/blood , Male , Neutropenia/etiology , Reference Values , Retrospective Studies , Risk Factors
18.
Dtsch Med Wochenschr ; 119(40): 1351-6, 1994 Oct 07.
Article in German | MEDLINE | ID: mdl-7924940

ABSTRACT

A previously healthy and normally developing 12-day-old female suddenly became restless and developed cold sweats, tachypnoea and tachycardia (300 beats/min). Neither electrocardiogram nor echocardiogram showed evidence of any cardiac defect. Carotid sinus massage and other vagus-stimulating manoeuvres, undertaken because paroxysmal supraventricular tachycardia (PSVT) was suspected, were unsuccessful. Before rapid digitalization, adenosine triphosphate was administered (0.1 mg/kg intravenously). Sinus rhythm was restored within about 60 s. Despite further treatment with digoxin and verapamil (4 mg/kg.d), further episodes of PSVT occurred, each again responding to ATP (0.1 to 0.3 mg/kg). There were no side effects. After 24-hour Holter ECG monitoring had revealed Wolff-Parkinson-White syndrome as cause of the PSVT, propafenone was administered (15 mg/kg daily) and has prevented further recurrence of the tachycardia.


Subject(s)
Adenosine Triphosphate/therapeutic use , Tachycardia, Supraventricular/drug therapy , Wolff-Parkinson-White Syndrome/complications , Digoxin/therapeutic use , Drug Therapy, Combination , Echocardiography , Electrocardiography , Electrocardiography, Ambulatory , Female , Humans , Infant, Newborn , Propafenone/therapeutic use , Tachycardia, Supraventricular/etiology , Verapamil/therapeutic use , Wolff-Parkinson-White Syndrome/diagnosis , Wolff-Parkinson-White Syndrome/drug therapy
19.
Blood ; 82(10): 3177-82, 1993 Nov 15.
Article in English | MEDLINE | ID: mdl-7693041

ABSTRACT

The neonate is uniquely susceptible to severe and overwhelming bacterial infections. One of the most important deficits in the neonatal host defense system seems to be a quantitative and qualitative deficiency of the myeloid and the phagocytic system. Future optimal therapy of neonatal sepsis may include the use of adjuvant immunologic therapy. Granulocyte colony-stimulating factor (G-CSF) has been shown to induce neutrophilia and to enhance mature effector neutrophil function. To evaluate the role of G-CSF with respect to infection, we examined serum levels of G-CSF in term and preterm neonates, using an enzyme-linked immunosorbent assay method. G-CSF levels in healthy neonates showed peak levels up to 7 hours after birth, followed by an increase in total neutrophil cell (TNC) counts. Both G-CSF levels determined between 4 and 7 hours after birth and peak TNC counts correlated with the gestational age of the neonates. The state of nutrition, maternal treatment with glucocorticoids, maternal infection and hypertension, and the mode of delivery influenced peak G-CSF levels. Neonates with signs of infection between 4 and 7 hours after birth had higher levels of G-CSF than did healthy neonates (1,312 +/- 396 pg/mL v 176 +/- 19 pg/mL). In conclusion, the presented results of serum concentrations of G-CSF in relation to TNC counts and various diseases suggests an important role of G-CSF in the regulation of granulopoiesis during the neonatal period.


Subject(s)
Bacterial Infections/blood , Granulocyte Colony-Stimulating Factor/blood , Female , Glucocorticoids/therapeutic use , Humans , Infant, Newborn , Infant, Premature , Infant, Small for Gestational Age , Leukocyte Count , Neutrophils , Pregnancy , Pregnancy Complications, Infectious/blood , Respiratory Distress Syndrome, Newborn/blood , Respiratory Distress Syndrome, Newborn/prevention & control , Twins
20.
Klin Padiatr ; 205(2): 119-23, 1993.
Article in German | MEDLINE | ID: mdl-8487479

ABSTRACT

Two siblings of consanguinous parents, one male and one female, presented with symptoms of adrenal insufficiency related to respiratory infection at the age of two and three months, respectively. Besides a reduction of the synthesis of gluco- and mineralocorticoids, the sexual hormones were found to be reduced as well. Therefore, the boy showed a female sexual phenotype (male pseudohermaphroditism). Additionally, minor malformations including epicanthal folds, anti-mongoloid palpebral fissures, low-set ears were noticed, which have not been reported in children with the suspected diagnosis previously. The female sibling had typical Addison's crisis twice during the following years. Endocrinological tests yielded evidence for Cholesterol-20,22-desmolase deficiency.


Subject(s)
Adrenal Hyperplasia, Congenital/genetics , Adrenal Insufficiency/genetics , Cholesterol Side-Chain Cleavage Enzyme/deficiency , Disorders of Sex Development/genetics , Adrenal Cortex Function Tests , Adrenal Hyperplasia, Congenital/diagnosis , Adrenal Insufficiency/diagnosis , Child , Child, Preschool , Cholesterol Side-Chain Cleavage Enzyme/genetics , Consanguinity , Disorders of Sex Development/diagnosis , Female , Humans , Pedigree
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