Effect of phototherapy on the ductus arteriosus diameter in extremely premature infants: A randomised controlled trial.

Patent ductus arteriosus (PDA) is a common complication among preterm infants (especially birth weight < 1000 g) and is closely associated with mortality and morbidity. Phototherapy (PT) is frequently used in the treatment of jaundice in premature infants in the first week of life. The relationship between PT and PDA has been investigated in a small number of studies but has not been fully elucidated because the studies had varying results. AIM: To examine the effect of PT on parameter (DA diameter, left atrial/aortic root ratio) in premature infants. METHODS: The study was planned as a prospective, randomised, double-blind study. A total of 83 infants <1000 g and < 30 weeks of gestation were included, and they were divided into two groups: the non-shielded and shielded groups. The babies included in the study were evaluated with a Doppler echocardiogram before and after PT. RESULTS: The hemodynamically significant PDA (hs-PDA) and left atrial/aortic root ratio significantly decreased in the shielded group, and the need for treatment due to PDA was significantly lower. The PT times of both groups were similar. CONCLUSION: Shielding application decreases the rate and severity of hs-PDA in extremely premature babies receiving PT.

Cerebral monitoring of very preterm infants with anterior cerebral artery resistive index and early NIRS.

BACKGROUND: The prediction of adverse conditions in the preterm neonatal brain might be improved by cerebral monitoring using combined measures of cerebral function, including oxygenation and blood flow parameters. To perform the consecutive measurements of the resistive index (RI) from the anterior cerebral artery (ACA) within the first week of life and to evaluate the association of these measurements with cerebral oxygen saturation (Csat) detected by near-infrared spectroscopy (NIRS). METHODS: This prospective cohort study enrolled very preterm infants, <32 weeks of gestational age, admitted to a tertiary neonatal intensive care unit. Csat levels were continuously monitored using NIRS for 72 h after birth. ACA RI measurements were obtained on the first, third, and seventh days of life by using transcranial Doppler ultrasound. These measurements were also compared between infants with and without unfavorable outcomes, including severe intraventricular hemorrhage (IVH) and early mortality. RESULTS: A total of 96 preterm infants with Csat and ACA RI measurements were analyzed. Age at birth was 28.3 ± 1.9 weeks and birth weight was 1090 ± 305 g. The mean Csat of the infants was 77.1% ± 8.2% during the first 72 h of life. Mean ACA RI values were 0.76 ± 0.10, 0.75 ± 0.08, and 0.77 ± 0.08 on the first, third, and seventh days of life, respectively. RI on the first day of life was significantly higher in infants delivered by cesarian section than in those delivered vaginally (0.77 vs. 0.69; p = 0.017). Infants who died earlier had significantly higher ACA RI values on the first day than infants who survived beyond the first 7 postnatal days (0.83 vs. 0.76; p < 0.001). DISCUSSION: There was no association between ACA RI and Csat in the early period of life. ACA RI values on the first postnatal day might be significant for predicting early mortality in very preterm infants.

Recovery of cyanosis after esophageal intubation in a neonate with tracheal agenesis: a case report.

BACKGROUND: Tracheal agenesis (TA) is a rare congenital defect that consists of a complete or partial absence of the trachea below the larynx, with or without tracheoesophageal fistula (TEF). It is a severe congenital defect with a very high mortality rate. The recommended surgical approach is esophageal ligation and gastrostomy. Despite the progress in reconstructive surgical techniques, the outcome of the anomaly is still very poor. We described a case of TA with a TEF in a female newborn with a hemivertebra, single ventricle, single atrioventricular valve, single atrium, and cardiac left isomerization. CASE: The patient, who was born at 37 weeks of age, was diagnosed with imaging methods, as the cyanosis did not improve despite being intubated many times in the delivery room; the cyanosis improved after esophageal intubation. Despite all life support treatment, the patient died on the fourth day of life. At autopsy, tracheal agenesis was diagnosed. CONCLUSIONS: In newborns who cannot be intubated in the delivery room or whose lungs cannot be ventilated despite being intubated and whose cyanosis cannot be corrected, tracheal agenesis should be considered and ventilation with esophageal intubation should also be tried.

Bedside Patent Ductus Arteriosus Ligation in Premature Infants.

OBJECTIVE: To determine the safety of on-site bedside patent ductus arteriosus (PDA) ligation, performed by a regional roving surgical team at different neonatal intensive care units (NICUs) in preterm infants with hemodynamically significant PDA (hsPDA). STUDY DESIGN: A descriptive study. PLACE AND DURATION OF STUDY: Department of Paediatric Cardiovascular Surgery, Ankara City Hospital, Ankara, Turkey, between January 2018 and December 2020. METHODOLOGY: Medical data of 48 premature infants with hsPDA, who underwent bedside PDA ligation by the same roving surgical team at five different NICU centres in Ankara province, were evaluated. Demographic and clinical data of the patients were extracted from the institutional databases and medical records. Postoperative complications were recorded. RESULTS: Mean body-weight of the infants was 1113.1 ± 392.8 grams. Forty patients were under respiratory support before surgery. Majority of the patients (n=45, 93.7%) no longer needed respiratory support after the third and seventh days of surgery. No complications related to surgery or anaestesia were observed. Non of the patients developed post-PDA ligation cardiac syndrome. No surgical wound infection or sepsis was observed in any patient. The overall mortality rate was 4.2%. CONCLUSION: Bedside PDA ligation at different NICUs by the roving surgical team is safe and effective. Owing to an extremely low risk, this procedure can be performed successfully in the hands of professional and experienced surgeons. It seems to be a feasible option for premature infants with hsPDA, who do not respond to medical treatment. Key Words: Infant, Patent ductus arteriosus, Ligation, Intensive care unit, Newborn, Surgery.

Is chlorine and sodium levels in the amniotic fluid a new marker for fetal lung maturation and RDS severity?

BACKGROUND: Amniotic fluid (AF) is a dynamic liquid whose contents vary according to the needs of the fetus. Levels of the amniotic components have been used in numerous studies as potential biomarkers to screen pregnancy-related abnormalities. As a reflection of Na+ and Cl- levels of fetal lung fluid, amniotic fluid's Na+ and Cl- levels can be used as an indicator of lung maturation in the newborn period. This study aimed to investigate whether Na+ and Cl- levels in the amniotic fluid would be a new marker to determine the severity of respiratory distress and pulmonary maturation in the newborn. METHODS: This prospective cohort study was conducted at Hacettepe University Neonatal Intensive Care Unit. One hundred twenty single infants who were delivered with the cesarean section between January 2015 and March 2016 were included. Na+ and Cl- levels were measured from AF. RESULTS: There were 46 of 120 infants (33.3%) in Group-1 and 74 infants (66.7%) in Group-2. Na + and Cl- levels of the AF of Group-1 were higher than Group 2 and this was statistically significant (p < .001/p: .01, respectively). Na+ and Cl- levels of the AF were significantly higher in infants who needed surfactant (p < .001/p: .001, respectively). CONCLUSION: Our results showed that Na+ and Cl- levels of the AF can be used as an indicator of infant lung maturation.

A New Hope in the Treatment of Intraventricular Haemorrhage in Preterm Infants: Mesenchymal Stem Cells.

To date, there has been no effective treatment to prevent brain damage in premature infants or to prevent the development of post-hemorrhagic hydrocephalus (PHH) after severe intraventricular hemorrhage (IVH). Therefore, new, safe and effective treatment methods need to be developed to improve the prognosis of IVH, for which morbidity and mortality rates are high. Recent studies have shown that the strong immunomodulatory properties of mesenchymal stem cells (MSCs) have an anti-inflammatory effect after IVH, inhibiting the development of PHH and decreasing apoptosis and gliosis, thus improving the self-renewal ability of neuronal tissues. For this reason, MSCs transplantation after IVH is a promising treatment method. In this article, we present a case of grade- III IVH who recovered after MSCs transplantation.

Evaluation of Different Types of Natural Surfactants by Lung Ultrasound in Respiratory Distress Syndrome.

OBJECTIVE: This study aimed to compare the lung ultrasonography (LUS) scores after two different natural surfactant administration as a parameter reflecting lung inflation. STUDY DESIGN: Preterm infants of 32 gestational weeks and below who were diagnosed with respiratory distress syndrome (RDS) were randomly assigned to be administered either poractant alfa or beractant, prospectively. Serial LUS scans were obtained by an experienced neonatologist in a standardized manner before and after (2 and 6 hours) surfactant administration. The LUS scans were evaluated by protocols based on scores and lung profiles. RESULTS: Thirty-seven infants received poractant alfa and 36 received beractant. The baseline characteristics and presurfactant LUS scores were similar in groups. The scores were significantly decreased after surfactant administration in both groups (2 hours, p = < 0.001; 6 hours, p = < 0.001). LUS scores in poractant group were significantly lower than beractant group when compared at each time point. At the end of 6 hours, the number of infants with the normal profile was significantly higher in the poractant group (∼65%) than the beractant group (22%). CONCLUSION: LUS is beneficial for evaluating lung aeration after surfactant treatment in preterm infants with RDS. A better lung aeration can be achieved in the early period with the use of poractant alfa.

Evaluation of the Effects of Delayed Cord Clamping in Infants of Diabetic Mothers.

OBJECTIVE: This study aimed to investigate the effect of delayed cord clamping (DCC) in infants of diabetic mothers. STUDY DESIGN: Women who had diabetes throughout their pregnancy and gave birth at 37 weeks of gestation or later were included in the study along with their babies. Early cord clamping was performed as soon as possible after birth, while DCC was performed by clamping 60 second after birth. The two groups were compared in terms of venous hematocrit (htc) levels and rates of hypoglycemia, jaundice requiring phototherapy, and respiratory distress. RESULTS: Venous htc levels at postnatal 6 and 24 hours were significantly higher in the DCC group (p = 0.0001). Polycythemia rates were higher in the DCC group at both 6 and 24 hours, but partial exchange transfusion (PET) was not needed in either group. There were no differences between the groups with regard to the rates of hypoglycemia or jaundice requiring phototherapy. Rate of admission to the neonatal intensive care unit (NICU) was lower in the DCC group. CONCLUSION: Although DCC increased the rate of polycythemia, it did not result in PET requirement. Moreover, DCC reduced the severity of respiratory distress and the rate of admission to NICU due to respiratory distress.

Tidal Breathing Parameters Measured by Structured Light Plethysmography in Newborns: Is It Feasible in Neonatal Intensive Care Unit?

OBJECTIVE: Structured light plethysmography (SLP) is a novel and noncontact respiratory assessment technique. It provides tidal breathing measurement in patients difficult to cooperate. In this study, we aimed to determine data for tidal breathing parameters measured by SLP in newborns. STUDY DESIGN: Infants between 2 and 5 days of life without having any respiratory symptoms were eligible for this observational study. In total, 5 minutes of tidal breathing was recorded using SLP (Thora-3Di, PneumaCare Ltd, Cambridge, U.K.) in each infant. Various tidal breathing parameters including timing indices, flow-based parameters, and regional parameters were obtained from SLP data. RESULTS: A total of 57 infants underwent measurements in the study. Evaluable recordings from 42 term and 11 late preterm infants were analyzed. Median gestational age and birthweight of the infants were 38 (37-39) weeks and 3,195 (2,790-3,585) g, respectively. In terms of flow-based parameters, "tidal inspiratory flow at 50% of inspiratory volume divided by tidal expiratory flow at 50% of expiratory volume" was 1.29 (1.13-1.53). Relative contribution of the thorax to each breath in percentage was measured as 38.67 (28.21-43.60). Median values of left-right hemithoracic asynchrony and thoraco-abdominal asynchrony were 6.92 (5.35-9.04) and 17.96 (12.98-36.44) degrees in the study population, respectively. There were no differences in tidal breathing parameters except "hemithoracic asynchrony" between term and late preterm infants. Hemithoracic asynchrony was significantly lower in term neonates than late preterms. CONCLUSION: SLP was found to be feasible to obtain measures of tidal breathing parameters in newborns and it could be performed successfully even in the first days of life.

Is serum procalcitonin level a reliable indicator in early diagnosis of congenital pneumonia?

Bozkaya D, Yigit S, Yurdakök M. Is serum procalcitonin level a reliable indicator in early diagnosis of congenital pneumonia? Turk J Pediatr 2019; 61: 34-39. The clinical signs in congenital pneumonia mimic other conditions like transient tachypnea of the newborn (TTN) and respiratory distress syndrome (RDS). Differential diagnosis is difficult since laboratory findings have limited value. Procalcitonin (PCT) is an important and widely studied marker of infection. The aim of this study was to determine the diagnostic value of PCT in newborn patients hospitalized in the neonatal intensive care unit (NICU) with the diagnosis of congenital pneumonia. The infants with respiratory distress who were born at Hacettepe University between 2005-2015 and hospitalized in the NICU were included in the study. A total of 200 newborn infants; 54 (27%) infants with congenital pneumonia (Group-1), 42 (21%) infants with TTN (Group-2), 40 (20%) infants with RDS (Group-3) and 64 (32%) healthy infants (group-4), were included in the study. There was no statistically significant difference between the groups for serum C-reactive protein (CRP) levels, sampling time for PCT and CRP and the characteristics of the mother (p > 0.05). Mean serum PCT level was higher in the congenital pneumonia group than in the other groups (p < 0.001). Result of this study shows that procalcitonin is an important early marker in the diagnosis of congenital pneumonia.

Perfusion index and pleth variability index in the first hour of life according to mode of delivery.

Yigit S, Takci S, Bozkaya D, Yurdakök M. Perfusion index and pleth variability index in the first hour of life according to mode of delivery. Turk J Pediatr 2018; 60: 421-425. Perfusion index (PI) is a relative assessment of the pulse strength at the monitoring site. The plethysmographic variability index (PVI, pleth variability index) is a noninvasive and continuous measure of the dynamic change in PI that occurs during respiratory cycles. In this study PI and PVI changes were compared in babies born with cesarean section (C/S) or spontaneous vaginal delivery (SVD); 125 healthy term infants were monitored with pulse oxymeter after first ten minutes of life. Data were recorded from this monitor on a personal computer and analyzed by generalized estimating equations (GEE) method. Pulse rate was lower in babies born via SVD. Perfusion index were higher in C/S group. Pleth variability index were higher in C/S group. Higher pulse rate, PI and PVI values in babies born via C/S may be indicative of more significant hemodynamic changes in these infants during early transitional period after birth.

Normoblastemia multinuclear en un recién nacido secundaria a hipoxia / Multinucleated normoblastemia in a newborn secondary to hypoxia

Es posible detectar normoblastos en los frotis de sangre periférica de los recién nacidos. En general, la cantidad de normoblastos por cada 100 leucocitos está en el intervalo de 0 a 10. Se observan con más frecuencia de lo usual ante una situación de hipoxia porque la hipoxia intrauterina aumenta la producción de eritrocitos. Sin embargo, no se había informado antes un caso de normoblastos multinucleados en un recién nacido a causa de la hipoxia. Presentamos el caso de un recién nacido con normoblastos multinucleados secundarios a hipoxia intrauterina. Este caso es importante porque es la primera vez que se han detectado normoblastos multinucleados en el frotis de sangre periférica de un recién nacido hipóxico.

Normoblasts may be seen in peripheral blood smear of newborns. The number of normoblasts per 100 white blood cells is generally in the range of 0-10.They can be seen more common than usual in hypoxic condition, because intrauterine hypoxia increases the production of red blood cells. However, multinucleated normoblasts in a newborn caused by hypoxia haven't been reported before. We present a newborn with multinucleated normoblasts secondary to intrauterine hypoxia. This case is important; because it is the first time multinucleated normoblasts in peripheral blood smear of a hypoxic newborn has been detected.

Normoblastemia multinuclear en un recién nacido secundaria a hipoxia. / Multinucleated normoblastemia in a newborn secondary to hipoxia.

Normoblasts may be seen in peripheral blood smear of newborns. The number of normoblasts per 100 white blood cells is generally in the range of 0-10.They can be seen more common than usual in hypoxic condition, because intrauterine hypoxia increases the production of red blood cells. However, multinucleated normoblasts in a newborn caused by hypoxia haven't been reported before. We present a newborn with multinucleated normoblasts secondary to intrauterine hypoxia. This case is important; because it is the first time multinucleated normoblasts in peripheral blood smear of a hypoxic newborn has been detected.

Es posible detectar normoblastos en los frotis de sangre periférica de los recién nacidos. En general, la cantidad de normoblastos por cada 100 leucocitos está en el intervalo de 0 a 10. Se observan con más frecuencia de lo usual ante una situación de hipoxia porque la hipoxia intrauterina aumenta la producción de eritrocitos. Sin embargo, no se había informado antes un caso de normoblastos multinucleados en un recién nacido a causa de la hipoxia. Presentamos el caso de un recién nacido con normoblastos multinucleados secundarios a hipoxia intrauterina. Este caso es importante porque es la primera vez que se han detectado normoblastos multinucleados en el frotis de sangre periférica de un recién nacido hipóxico.

Epidermolysis Bullosa with Pyloric Atresia and Aplasia Cutis in a Newborn Due to Homozygous Mutation in ITGB4.

BACKGROUND: Epidermolysis bullosa with pyloric atresia (EB-PA) is an autosomal recessive disorder due to mutations in ITGA6 and/or ITGB4, resulting in altered expression of α6ß4 integrin. EB-PA can also occur with aplasia cutis. CASE REPORT: We present a newborn with EB-PA and aplasia cutis, born of consanguineous parents, with a homozygous c.3793+1G>A mutation affecting ITGB4, previously described only in the heterozygous state with other mutations. CONCLUSION: The previously unreported homozygous c.3793+1G>A mutation affecting ITGB4 causes a severe form of junctional epidermolysis bullosa with pyloric atresia and aplasia cutis.

Cost-effectiveness of rotavirus vaccination in Turkey.

BACKGROUND/PURPOSE: Cost-effectiveness studies about rotavirus (RV) vaccination programs were performed in many countries due to the severe economic burden of RV infections. This study is an economic evaluation performed to assess the potential for introducing the RV vaccine to the Turkish National Immunization Program. METHODS: In this retrospective clinical study, the records and laboratory findings of a total of 4126 patients admitted to Turgut Ozal University Hospital, Ankara, Turkey with acute gastroenteritis were analyzed. A model described by Parashar et al. was used to obtain the annual episodes of diarrhea, hospitalization and outpatients visits in Turkey. Monovalent and pentavalent vaccination was assumed to protect in average 85% of RV acute gastroenteritis. All costs are expressed in 2012 United States (US) $, where US$1 equals 1.8 Turkish Liras (TL). Losses of labor costs were not taken into consideration. RESULTS: The vaccination program with 85% coverage was cost effective and cost saving compared to no vaccination. A projected birth cohort of 1.25 million children was followed until 5 years of age; a routine vaccination could potentially avert 210,994 cases of diarrhea treated in outpatient hospital facilities and 42,715 hospitalizations. The RV associated economic burden was obtained as US$17,909 million per year (US$14.33 per birth annually) in medical direct costs by using the national level of RV diarrhea disease burden estimates. For monovalent and pentavalent vaccination, assuming a cost of US$31.5 and US$38 per vaccine course, the cost of the vaccination program was estimated to be approximately US$37,878 million and US$45,475 million, respectively. CONCLUSION: At a cost per vaccine course of US$31.5 for monovalent and US$38 for pentavalent vaccine, routine RV vaccination could be potentially cost effective and also cost saving in Turkey. National RV vaccinations will play a significant role in preventing RV infections.

Comparison between the use of saline and seawater for nasal obstruction in children under 2 years of age with acute upper respiratory infection.

BACKGROUND/AIM: The effectiveness of isotonic and hypertonic saline solutions used to open the nasal passage and improve clinical symptoms was compared in children under 2 years of age admitted with the common cold. MATERIALS AND METHODS: The study was performed as a randomized, prospective, and double-blind study. The study included 109 children. The children using saline (0.9%) and seawater (2.3%) as nasal drops (the patient group) and the control group (in which nasal drops were not administered) were compared. Seventy-four patients received nasal drops from package A (seawater) in single days and from package B (physiological saline) in double days. RESULTS: The mean age of the patients was 9.0 ± 3.9 months and the numbers of boys and girls were 65 (59.6%) and 44 (40.4%), respectively. There was no significant difference between Groups A and B in terms of nasal congestion (P > 0.05). However, a significant difference was found between the control group and Groups A and B (P < 0.05). CONCLUSION: Relief was seen in nasal congestion, weakness, sleep quality, and nutrition with the use of both saline and seawater in children with the common cold. Seawater or saline drops may be added to standard treatment protocols.

Accidental oral administration of povidone iodine in a newborn: case report.

Iodine solutions are widely used as antiseptic for treating and preventing wound infections. Povidone iodine, one of the most common topical iodine solutions in emergency kits, can lead to several abnormalities as thyroid dysfunction. Povidone iodine poisoning is unusual and previously reported effects are mainly complications of topical usage during surgical procedures. Here we present the case of a newborn that was accidentally given oral povidone iodine, showing no signs or symptoms of toxicity after ingestion.

Las soluciones yodadas se utilizan ampliamente como antiséptico para el tratamiento y la prevención de infecciones en las heridas. La povidona yodada, una de las soluciones yodadas de aplicación tópica que más se encuentra en los botiquines de emergencia, podría producir anomalías graves, como disfunción tiroidea. La intoxicación por povidona yodada es poco frecuente; entre los efectos notificados previamente se incluyen complicaciones del uso tópico durante procedimientos quirúrgicos. Se describe el caso de un neonato que recibió povidona yodada por vía oral accidentalmente, sin signos ni síntomas de toxicidad después de la ingesta.

Administración oral accidental de povidona yodada a un neonato: a propósito de un caso / Accidental oral administration of povidone iodine in a newborn: Case report

Las soluciones yodadas se utilizan ampliamente como antiséptico para el tratamiento y la prevención de infecciones en las heridas. La povidona yodada, una de las soluciones yodadas de aplicación tópica que más se encuentra en los botiquines de emergencia, podría producir anomalías graves, como disfunción tiroidea. La intoxicación por povidona yodada es poco frecuente; entre los efectos notificados previamente se incluyen complicaciones del uso tópico durante procedimientos quirúrgicos. Se describe el caso de un neonato que recibió povidona yodada por vía oral accidentalmente, sin signos ni síntomas de toxicidad después de la ingesta.

Iodine solutions are widely used as antiseptic for treating and preventing wound infections. Povidone iodine, one of the most common topical iodine solutions in emergency kits, can lead to several abnormalities as thyroid dysfunction. Povidone iodine poisoning is unusual and previously reported effects are mainly complications of topical usage during surgical procedures. Here we present the case of a newborn that was accidentally given oral povidone iodine, showing no signs or symptoms of toxicity after ingestion.

Decreased mean platelet volume in children with acute rotavirus gastroenteritis.

BACKGROUND: The contribution of platelets to the inflammatory response via several platelet derived mediators is well recognized. The role of mean platelet volume (MPV) in infectious and inflammatory disorders, however, has not yet been well-established. While some of the previous studies demonstrated that MPV acted as a positive acute phase reactant, several others suggested its role as a negative acute phase reactant. In the current study, we aimed to assess the role of MPV as an acute phase reactant in children with rotavirus gastroenteritis. METHODS: We undertook a prospective, randomized, controlled, cross-sectional study and enrolled children diagnosed with acute rotavirus gastroenteritis and healthy controls (HC), between August and November 2012. Children with acute gastroenteritis were assigned either in the rotavirus-positive acute gastroenteritis (RPAG) or in the rotavirus-negative acute gastroenteritis (RNAG) group depending on their stool antigen results. Patients were also classified into two groups based on their Vesikari score (< 11: non-severe and ≥ 11: severe). Complete blood count and C-reactive protein (CRP) levels were assessed for all patients. We compared MPV between RPAG, RNAG and HC groups and investigated the association, if any, among MPV, platelets, white blood count and CRP. RESULTS: In total 100 RPAG (54 males; mean age: 38.74 ± 41.45 months), 100 RNAG (58 males; mean age: 32.84 ± 29.64 months) children and 100 HC (43 males; mean age: 33.21 ± 32.55 months) were enrolled into the study. Mean platelet counts were well-matched among groups (p > 0.05). We observed a steady decline in MPV (fL) in the HC, RPAG and RNAG groups (median 7.80, 7.35 and 7.30, respectively; p < 0.0001). We did not find an association between MPV and the clinical score of gastroenteritis (p > 0.05). CONCLUSION: We found that MPV could be used as an acute phase reactant in children with rotavirus gastroenteritis. We believe that the current study will contribute to our understanding of MPV as an inflammatory marker.

Is PFAPA syndrome really a sporadic disorder or is it genetic?

Periodic fever syndromes are a group of disorders sharing similar symptoms, characterized primarily by regularly recurring fevers. PFAPA syndrome, one of the members of this group of disorders, is a clinical entity of unknown etiology which is frequently seen in the early childhood. Currently, the pathogenesis and the genetic basis of most of the disorders in the periodic fever spectrum are known, other than that of PFAPA syndrome. Although, classically PFAPA syndrome is known as a sporadic disease, we propose that it is not sporadic. We think that PFAPA syndrome may be an inherited disease and this hypothesis is supported by the clinical mimicry of PFAPA syndrome with other periodic fever syndromes with well-known genetic transmissions, frequent occurrence of the condition in members of the same family and emergence of common genetic mutations in the periodic fever syndrome spectrum. Moreover, our clinical observation that most of the patients diagnosed with PFAPA syndrome were of the same families strongly suggest a probable genetic transmission of this disorder. We have decided to discuss this hypothesis to contribute to the literature and assist our colleagues who are dealing with this commonly overlooked and often misdiagnosed disorder.