Effects of Virtual Reality Interventions on the Parameters of Normal Labor: A Systematic Review and Meta-Analysis of Randomized Controlled Trials. A Meta-Analysis of Virtual Reality Interventions on the Parameters of Normal Labor.

BACKGROUND: Clinical and experimental studies on virtual reality have shown that this easy-to-use and non-invasive method is a safe and effective strategy during normal labor. AIM: This study aims to analyze the effects of virtual reality (VR) interventions on some of the parameters of normal labor. DESIGN: Systematic review and meta-analysis. METHOD: Higher Education Council National Thesis Center, Scopus, PubMed, Google Scholar, and Science Direct databases were systematically searched for randomized controlled trials that administered VR to the intervention group but not to the control group and were published through January 2022. RevMan software was used to analyze the meta-analysis data. Pain, anxiety, satisfaction, and the duration of the first and second stages of labor were assessed as outcomes of normal labor. RESULTS: Seven randomized controlled trials, with a total of 756 women in total, met the inclusion criteria. Virtual reality interventions significantly reduced pain scores when cervical dilatation was ≤4 cm (MD = -0.43, 95% expansion here (CI [-0.65, -0.21], p < .001) and ≥9 cm (SMD = -1.91, 95% CI [-2.56, -1.26], p < .001). Anxiety scores significantly decreased (SMD = -1.08, 95% CI [-1.75, 0.41], p < .001), and childbirth satisfaction significantly increased (MD = 11.24, 95% CI [2.17, 20.30], p < .001) in the VR intervention groups. Finally, when compared to the control groups, the duration of the first stage of labor (SMD = -0.53, 95% CI [-0.83, -0.22], p < .01) and the second stage of labor (MD = -0.39, 95% CI [-0.76, -0.02], p = .001) were significantly decreased in the VR intervention groups. CONCLUSIONS: Virtual reality interventions are effective methods to reduce pain, anxiety, and the duration of the first and second stages of labor and to increase satisfaction with normal labor.

Neonatal Resuscitation Practices in Turkey: A Survey of the Turkish Neonatal Society and the Union of European Neonatal and Perinatal Societies.

OBJECTIVE: Optimal care in the delivery room is important to decrease neonatal morbidity and mortality. We aimed to evaluate neonatal resuscitation practices in Turkish centers. MATERIALS AND METHODS: A cross-sectional survey consisted of a 91-item questionnaire focused on delivery room practices in neonatal resuscitation and was sent to 50 Turkish centers. Hospitals with <2500 and those with ≥2500 births/year were compared. RESULTS: In 2018, approximately 240 000 births occurred at participating hospitals with a median of 2630 births/year. Participating hospitals were able to provide nasal continuous-positiveairway-pressure/high-flow nasal cannula, mechanical ventilation, high-frequency oscillatory ventilation, inhaled nitric oxide, and therapeutic hypothermia similarly. Antenatal counseling was routinely performed on parents at 56% of all centers. A resuscitation team was present at 72% of deliveries. Umbilical cord management for both term and preterm infants was similar between centers. The rate of delayed cord clamping was approximately 60% in term and late preterm infants. Thermal management for preterm infants (<32 weeks) was similar. Hospitals had appropriate equipment with similar rates of interventions and management, except conti nuous-positive-airway-pressure and positive-end-expiratory-pressure levels (cmH2O) used in preterm infants (P = .021, and P = .032). Ethical and educational aspects were also similar. CONCLUSIONS: This survey provided information on neonatal resuscitation practices in a sample of hospitals from all regions of Turkey and allowed us to see weaknesses in some fields. Although adherence to the guidelines was high among centers, further implementations are required in the areas of antenatal counseling, cord management, and circulation assessment in the delivery room.

Effect of humic acid on oxidative stress and neuroprotection in hypoxic-ischemic brain injury: part 1.

BACKGROUND: Aimed to investigate in an animal model the efficacy of humic acid by showing its antioxidant and anti-apoptotic effect comparing with the histopathological and neurological outcomes for the hypoxic-ischemic brain injury. METHODS: 28 Wistar-Albino rats who were on the 7th postnatal day and weighting between 9 and 19 g randomly divided into four groups with developed HIE model under the gas anesthesia. 20 mg/kg and 10 mg/kg intraperitoneal HA were given to Group I and II respectively. Saline was given to Group III and the sham group was Group IV. The brain tissues were stained with cresyl-violet histochemistry for grading neuronal cell injury and caspase immunohistochemistry. RESULTS: The neuronal cell injury was statistically lower in all neuroanatomical lands in HA treatment groups. The degree of ischemia was significantly smaller in HA groups. Caspase-3 immunoreactivity was decreased in the HA groups compared with the saline group. When the groups were compared, there were no serious neuronal injury in Group I. CONCLUSIONS: This is the first study which investigates the role of HA in HIE model. HA reduces apoptosis and neuronal injury in cerebral tissue of the rats. This findings suggest that HA may be viable protective agent against HIE.

Value of urinary kidney injury molecule-1 levels in predicting acute kidney injury in very low birth weight preterm infants.

OBJECTIVE: This study aimed to evaluate the significance of urinary kidney injury molecule-1 (uKIM-1) levels in predicting acute kidney injury (AKI) and mortality in very low birth weight (VLBW) preterm infants. METHODS: This prospective, observational cohort study was conducted on 39 VLBW preterm infants. Serum creatinine (SCr) and uKIM-1 levels were measured in the first 24 and 48 to 72 hours of life. The estimated glomerular filtration rate (eGFR) was calculated. Levels of uKIM-1 were measured with an enzyme-linked immunosorbent assay. RESULTS: Among 39 VLBW infants, 9 (23%) developed AKI. The mortality rate was 17.9% (n = 7 neonates). There was no significant difference in SCr levels, uKIM-1 levels, or the eGFR obtained in the first 24 hours in the AKI group compared with controls. However, significant differences were found in SCr and uKIM-1 levels, and the eGFR rate at 48 to 72 hours between the groups. Levels of uKIM-1 were significantly higher in non-survivors than in survivors in the first 24 and 48 to 72 hours of life. CONCLUSION: The level of uKIM-1 can be used as a simple noninvasive diagnostic method for predicting AKI and mortality, especially within 48 to 72 hours of life.Clinical trial registration: We do not have a clinical trial registration ID. In Turkey, clinical trial registration is not required for non-drug, noninvasive, clinical studies.

Kyphectomy in neonates with meningomyelocele.

PURPOSE: Kyphosis is the most severe spinal deformity associated with meningomyelocele (MMC) and is seen in approximately 15% of neonates. Our purpose is to present our clinical experience, to discuss the technique and deformity correction in kyphectomy in neonates with MMC, and to assess its long-term outcomes. METHOD: In this prospective study, the authors reviewed eight cases submitted to surgery between 2013 and 2015. We evaluated clinical characteristics that were analyzed, as were the operative technique employed, and angle range of the kyphosis deformity postcorrection follow-up. RESULTS: Neonatal kyphectomy was performed of six females and two males. The mean birth weight was 2780 g, and the mean age at the time of surgery was 5.6 days. There were S-shaped type deformity in lumbar region in all neonates. In the correction of the kyphotic deformity, a total vertebrae were removed from four patient, whereas a partial vertebrectomy was done in four. The mean operative time was 116 min. No patients did not require the blood transfusion. There were no serious complications, and wound closure was successful in all patients. The mean follow-up period was 4 years and 3 months (range 36-61 months), except one patient who died 1 week after discharge. The mean preoperative kyphosis of 75.6° (range, 50°-90°) improved at last follow-up to 35° (range 15°-55°). All patients had surgical procedures for hydrocephalus. Three patients had surgery for Chiari type II malformation. The mean hospital stay was 27.7 days. CONCLUSION: Kyphectomy performed at the time of dural sac closure in the neonate is a safe procedure with excellent correction.

Efficacy and Safety of Intravenous Colistin in Very Low Birth Weight Preterm Infants.

BACKGROUND: Given the severity and high mortality of multidrug-resistant Gram-negative bacilli (MDR-GNB) infections, the use of colistin will increase in patients with MDR-GNB infection. OBJECTIVE: This study aims to assess the efficacy and safety of intravenous colistin in very low birth weight (VLBW; birth weight < 1500 g) preterm infants. METHODS: We retrospectively analyzed the medical records of patients who received colistin between June 2016 and December 2017. The patients were assigned to two groups: the VLBW group and the non-VLBW group. Both groups were evaluated for response to treatment and adverse effects. RESULTS: In total, 66 infants who received colistin therapy were included; of these, 28 infants were VLBW. All of our patients received standard colistin treatment of 5 mg/kg per day in three doses and the median duration of colistin treatment was 14 days. No significant differences were observed between the groups with respect to the efficacy of colistin (defined as showing microbiological clearance in control cultures and the absence of mortality during treatment) (89.3 vs 86.8%, p > 0.99). Serum magnesium and potassium levels were significantly lower in the VLBW group than in the non-VLBW group during colistin therapy (magnesium, 1.30 vs 1.70 mg/dL, p < 0.001; potassium, 3.6 vs 4.6 mEq/L, p < 0.001). Acute kidney injury was observed in four infants in the VLBW group and one in the non-VLBW group, without significant differences (p = 0.15). CONCLUSIONS: Colistin administration appears to be efficacious in VLBW infants; however, renal function tests and serum electrolytes should be monitored more closely in these infants during treatment.

Diagnostic value of urine soluble triggering receptor expressed on myeloid cells (sTREM-1) for late-onset neonatal sepsis in infected preterm neonates.

Objective Sepsis is a complex clinical condition caused by a dysregulated immune response to an infection resulting in a fatal outcome. This study aimed to investigate the value of urine soluble triggering receptor expressed on myeloid cells (sTREM-1) for diagnosing culture-proven sepsis in preterm infants. Methods Preterm neonates were evaluated for late-onset sepsis (LOS). Laboratory investigations were performed. Urine sTREM-1 samples and blood cultures were synchronously collected. Using blood culture results, preterm neonates were divided into the culture-proven group and suspected sepsis group. Results A total of preterm 62 infants were included in the study; 31 had culture-proven sepsis and 31 were suspected as having sepsis. There were no significant differences in gestational age, sex, birth weight, and delivery mode between the groups. Neonates in the culture-proven group had significantly higher urine sTREM-1 levels than did those in the suspected sepsis group. Using a cut-off point for a urine sTREM-1 level of 78.5 pg/mL, the sensitivity was 0.90, specificity was 0.78, positive predictive value was 0.68, and negative predictive value was 0.94. Conclusions The present study highlights the role of urine sTREM-1 levels in LOS. Urine sTREM-1 may be a reliable and sensitive marker in detecting sepsis in preterm infants.

Incisivo central único de la línea media del maxilar, holoprosencefalia y estenosis congènita del orificio nasal anterior en un recién nacido prematuro: a propósito de un caso / Solitary median maxillary central incisor, holoprosencephaly and congenital nasal pyriform aperture stenosis in a premature infant: case report

El síndrome del incisivo central único de la línea media del maxilar es un trastorno raro que implica anomalías de la línea media, como holoprosencefalia, anomalías de las fosas nasales, fisura palatina, labio leporino, hipotelorismo, microcefalia y panhipopituitarismo. La estenosis congénita del orificio nasal anterior es una causa mortal de dificultad respiratoria neonatal debido al estrechamiento del orificio nasal anterior, y podría confundirse con la atresia de coanas. En este informe, presentamos el caso de un recién nacido con síndrome del incisivo central único de la línea media del maxilar acompañado de otras anomalías, tales como holoprosencefalia, estenosis del orificio nasal anterior, microcefalia y panhipopituitarismo. El cariotipado mostró una deleción heterocigota en el gen SIX3 en la región 2p21, que produjo una forma más grave de holoprosencefalia.

Solitary median maxillary central incisor syndrome is a rare disorder involving midline abnormalities such as holoprosencephaly, nasal cavity anomalies, cleft palate-lip, hypotelorism, microcephaly, and panhypopituitarism. Congenital nasal pyriform aperture stenosis is a lethal cause of neonatal respiratory distress due to narrowing of the pyriform aperture anteriorly and it can be confused with choanal atresia. In this report, we present a newborn infant with solitary median maxillary central incisor syndrome accompanied by other abnormalities including holoprosencephaly, nasal pyriform aperture stenosis, microcephaly and panhypopituitarism. Chromosomal analysis showed heterozygous SIX3 gene deletion at 2p21 region resulting in a more severe form of holoprosencephaly.

Solitary median maxillary central incisor, holoprosencephaly and congenital nasal pyriform aperture stenosis in a premature infant: case report. / Incisivo central único de la línea media del maxilar, holoprosencefalia y estenosis congènita del orificio nasal anterior en un recién nacido prematuro: a propósito de un caso.

Solitary median maxillary central incisor syndrome is a rare disorder involving midline abnormalities such as holoprosencephaly, nasal cavity anomalies, cleft palate-lip, hypotelorism, microcephaly, and panhypopituitarism. Congenital nasal pyriform aperture stenosis is a lethal cause of neonatal respiratory distress due to narrowing of the pyriform aperture anteriorly and it can be confused with choanal atresia. In this report, we present a newborn infant with solitary median maxillary central incisor syndrome accompanied by other abnormalities including holoprosencephaly, nasal pyriform aperture stenosis, microcephaly and panhypopituitarism. Chromosomal analysis showed heterozygous SIX3 gene deletion at 2p21 region resulting in a more severe form of holoprosencephaly.

El síndrome del incisivo central único de la línea media del maxilar es un trastorno raro que implica anomalías de la línea media, como holoprosencefalia, anomalías de las fosas nasales, fisura palatina, labio leporino, hipotelorismo, microcefalia y panhipopituitarismo. La estenosis congénita del orificio nasal anterior es una causa mortal de dificultad respiratoria neonatal debido al estrechamiento del orificio nasal anterior, y podría confundirse con la atresia de coanas. En este informe, presentamos el caso de un recién nacido con síndrome del incisivo central único de la línea media del maxilar acompañado de otras anomalías, tales como holoprosencefalia, estenosis del orificio nasal anterior, microcefalia y panhipopituitarismo. El cariotipado mostró una deleción heterocigota en el gen SIX3 en la región 2p21, que produjo una forma más grave de holoprosencefalia.

Can neutrophil to lymphocyte ratio predict late-onset sepsis in preterm infants?

BACKGROUND: The neutrophil to lymphocyte ratio (NLR) is an easily accessible biomarker that has been reported to represent disease severity in adult trials. The aim of this study was to evaluate the relationship between culture positiveness and NLR in cases where the reason of sepsis was considered, and to foresight an idea about the active agents. METHODS: Preterm infants with birth weights ≤1500 g and/or ≤32 gestational weeks were eligible for this study. The postnatal age of all included infants was more than 3 days with clinical and laboratory signs of sepsis. According to the results of blood cultures, all enrolled infants were classified into 2 groups: the culture-proven septic infants and suspected septic infants. The NLR was calculated as the ratio of neutrophil count to lymphocyte count. Initial laboratory investigations included WBC count, platelet count (PLT), C-reactive protein (CRP), and blood cultures. RESULTS: A total of 127 infants were involved: 57 culture-proven sepsis and 75 suspected sepsis. There were no significant differences between groups regarding gestational age, gender, birth weight, delivery mode, and postnatal age. Receiver operating curve analysis for NLR and CRP was calculated. The area under the curve corresponded to 0.78 ± 0.04 (NLR) vs 0.55 ± 0.05 (CRP). Using a cutoff point of 1.77 for NLR, the sensitivity was 0.73, the specificity was 0.78, and accuracy rate was 0.76. DISCUSSION: The prediction of NLR, an easy, inexpensive, and rapid method, along with CRP in the neonatal period for diagnosis of sepsis, will be more effective in detecting culture-proven sepsis and in decreasing unnecessary antibiotherapy.

Do mothers with high sodium levels in their breast milk have high depression and anxiety scores?

Objective This study aimed to assess the possible association of high breast milk sodium levels with postpartum depression and anxiety. Methods A total of 150 mothers and their healthy, exclusively breastfed newborns aged 8 to 15 days were recruited. Mothers were asked to complete scales for evaluation of postnatal depression and anxiety following an interview for consent and sociodemographic data collection. Breast milk samples were obtained to measure sodium and potassium (K) levels. Results Forty-nine mothers had higher than expected breast milk Na concentrations and a high Na/K ratio. These mothers scored significantly higher on the scales of postnatal depression and state anxiety ( P = 0.018 and P = 0.048, respectively). Conclusions This study shows that compared to normal breast milk Na levels and Na/K ratio, high breast milk Na and high Na/K ratio, with possible serious consequences in infants, are associated with maternal depressive and anxious symptoms in the postpartum period.

Congenital Complete Tracheal Ring in a Neonate: A Case Report.

Abnormalities of the upper airway tract lead to congenital high airway obstruction and may complicate neonatal airway management in the delivery room. Congenital complete tracheal rings are a rare and unusual tracheal anomaly, usually presenting in the neonate or infant as respiratory distress. The clinical presentation can vary from almost asymptomatic patients to near-fatal airway obstruction. It may exist as an isolated entity, or in association with other congenital malformations, in particular, cardiac anomalies along with vascular rings and pulmonary slings. Other associated anomalies have also been reported, for example, chromosomal anomalies, malformation of other parts of the respiratory tract, esophagus and skeletal systems. Here, we report an extreme case of VACTERL/TACRD association presented with congenital complete tracheal ring, encephalocele, bilateral radial agenesis with absent thumbs, equinovalgus deformity on right foot, low-set ears and micrognathia.

Impact of targeted-volume ventilation on pulmonary dynamics in preterm infants with respiratory distress syndrome.

BACKGROUND: Mechanical ventilation is an essential therapy in the treatment of respiratory failure in preterm infants. However, optimal ventilation strategy continues to be difficult to define. OBJECTIVE: To compare the effects of volume guarantee (VG) combined with intermittent mandatory ventilation (SIMV) and VG combined with pressure support ventilation (PSV) on the pulmonary mechanics and short term prognosis in preterm infants with respiratory distress syndrome. METHODS: Infants of <32 weeks gestational age ventilated for respiratory distress syndrome were randomized to receive either SIMV + VG or PSV + VG. The patient characteristics, ventilator variables including PIP, PEEP, MAP, VT, dynamic compliance, resistance, C20/C, and neonatal outcomes (IVH, ROP, oxygen dependency at 28th postnatal day and 36 weeks of PMA), mortality and extubation failure were recorded in each groups. RESULTS: Thirty-four infants were enrolled in to the study: 19 patients were randomized to the SIMV + VG group, and 15 patients to the PSV + VG group. No significant differences were observed between the two groups in terms of the birth weight, gestational age, gender, multiple pregnancy, delivery mode, and antenatal steroid treatment. The respiratory and ventilatory parameters were similar in the groups. The need for reintubation were common in SIMV + VG group (P < 0.01). CONCLUSIONS: Volume guaranteed ventilation combined with PSV may be a convenient method for preterm infants with RDS in terms of reducing postextubation atelectasis and the need for reintubation. Pediatr Pulmonol. 2017;52:213-216. © 2016 Wiley Periodicals, Inc.

Congenital cutis marmorata telangiectatica and syndactyly in a preterm: case report.

Cutis marmorata telangiectatica congenita (CMTC) is a rare, commonly benign, congenital, localized or generalized vascular anomaly of unknown aetiology. It is characterized by persistent cutis marmorata, telangiectasia and phlebectasia. Extracutaneous findings may be associated with CMTC in 18.8-70% of the cases. Diagnosis of the disorder is based on the clinical findings. The prognosis is good and improvement is observed within 2 years after birth. Herein, we report a case of a male neonate with CMTC presented on the skin of all his limbs, trunk and face, and an associated anomaly including syndactyly. We present this case because of its rarity.

La piel marmórea telangiectásica congenita (cutis marmorata telangiectatica congenita, CMTC) es una anomalía vascular congenita rara, a menudo benigna, localizada o generalizada, de etiología desconocida. Se caracteriza por piel marmórea persistente, telangiectasia y flebectasia. Podrían presentarse manifestaciones extracutáneas asociadas con la CMTC en el 18,8-70% de los casos. El diagnóstico de este trastorno se basa en los hallazgos clínicos. El pronóstico es bueno y suele mejorar dentro de los dos años de vida. En este artículo presentamos el caso de un varón recien nacido con CMTC en la piel de todas las extremidades, el tronco y el rostro, y una anomalía asociada, que incluía sindactilia. Presentamos este caso debido a su rareza.

Piel marmórea telangiectasica congenita y sindactilia en un recién nacido prematuro: A proposito de un caso / Congenital cutis marmorata telangiectatica and syndactyly in a preterm: Case report

La piel marmórea telangiectásica congenita (cutis marmorata telangiectatica congenita, CMTC) es una anomalía vascular congenita rara, a menudo benigna, localizada o generalizada, de etiología desconocida. Se caracteriza por piel marmórea persistente, telangiectasia y flebectasia. Podrían presentarse manifestaciones extracutáneas asociadas con la CMTC en el 18,8-70% de los casos. El diagnóstico de este trastorno se basa en los hallazgos clínicos. El pronóstico es bueno y suele mejorar dentro de los dos años de vida. En este artículo presentamos el caso de un varón recien nacido con CMTC en la piel de todas las extremidades, el tronco y el rostro, y una anomalía asociada, que incluía sindactilia. Presentamos este caso debido a su rareza.

Cutis marmorata telangiectatica congenita (CMTC) is a rare, commonly benign, congenital, localized or generalized vascular anomaly of unknown aetiology. It is characterized by persistent cutis marmorata, telangiectasia and phlebectasia. Extracutaneous findings may be associated with CMTC in 18.8-70% of the cases. Diagnosis of the disorder is based on the clinical findings. The prognosis is good and improvement is observed within 2 years after birth. Herein, we report a case of a male neonate with CMTC presented on the skin of all his limbs, trunk and face, and an associated anomaly including syndactyly. We present this case because of its rarity.

Arthrogryposis-renal tubular dysfunction-cholestasis syndrome: a cause of neonatal cholestasis. Case report.

Arthrogryposis-renal dysfunction-cholestasis syndrome is a rare lethal disorder that involves multipl organ system. It is inherited autosomal recessive and caused by defects in the VPS33B and VIPAR genes. Three cardinal findings of this syndrome are arthrogryposis, renal tubular dysfunction and cholestasis.The other organ involvements including ichthyosis, central nervous system malformation, platelet anomalies, congenital heart defects and severe failure to thrive are sometimes associated with this syndrome. Clinical findings, organ biopsy and mutational analysis can help for diagnosing but there is no curative treatment except supportive care. Several symptoms of this condition are already usually present in the neonatal period: arthrogryposis, neonatal cholestasis, skin lesions, among others. Usually survival is until the first year of life. We present a newborn whose evolution was rapidly fatal.

El síndrome de artrogriposis, disfunción tubular renal y colestasis es un trastorno fatal infrecuente que compromete múltiples aparatos y sistemas de órganos. Es un trastorno autosómico recesivo hereditario, causado por defectos en los genes VPS33B y VIPAR. Los tres signos primordiales de este síndrome son la artrogriposis, la disfunción tubular renal y la colestasis. Otros compromisos orgánicos a veces asociados con este síndrome son ictiosis, malformación del sistema nervioso central, anomalías trombocíticas, defectos cardíacos congénitos y grave retraso del crecimiento. Las manifestaciones clínicas, la biopsia de un órgano y los análisis de mutaciones pueden ayudar con el diagnóstico, pero no existe un tratamiento curativo; solamente puede instaurarse un tratamiento sintomático. Varios síntomas de esta afección usualmente se manifiestan en el período neonatal: artrogriposis, colestasis neonatal, lesiones cutáneas, entre otros. En general, la supervivencia se prolonga hasta el primer año de vida. Presentamos el caso de una recién nacida con una rápida evolución y desenlace fatal.

Síndrome de artrogriposis, disfunción tubular renal y colestasis: causa de colestasis neonatal. A propósito de un caso / Arthrogryposis-renal tubular dysfunction-cholestasis syndrome: a cause of neonatal cholestasis. Case report

El síndrome de artrogriposis, disfunción tubular renal y colestasis es un trastorno fatal infrecuente que compromete múltiples aparatos y sistemas de órganos. Es un trastorno autosómico recesivo hereditario, causado por defectos en los genes VPS33B y VIPAR. Los tres signos primordiales de este síndrome son la artrogriposis, la disfunción tubular renal y la colestasis. Otros compromisos orgánicos a veces asociados con este síndrome son ictiosis, malformación del sistema nervioso central, anomalías trombocíticas, defectos cardíacos congénitos y grave retraso del crecimiento. Las manifestaciones clínicas, la biopsia de un órgano y los análisis de mutaciones pueden ayudar con el diagnóstico, pero no existe un tratamiento curativo; solamente puede instaurarse un tratamiento sintomático. Varios síntomas de esta afección usualmente se manifiestan en el período neonatal: artrogriposis, colestasis neonatal, lesiones cutáneas, entre otros. En general, la supervivencia se prolonga hasta el primer año de vida. Presentamos el caso de una recién nacida con una rápida evolución y desenlace fatal.

Arthrogryposis-renal dysfunction-cholestasis syndrome is a rare lethal disorder that involves multipl organ system. It is inherited autosomal recessive and caused by defects in the VPS33B and VIPAR genes. Three cardinal findings of this syndrome are arthrogryposis, renal tubular dysfunction and cholestasis.The other organ involvements including ichthyosis, central nervous system malformation, platelet anomalies, congenital heart defects and severe failure to thrive are sometimes associated with this syndrome. Clinical findings, organ biopsy and mutational analysis can help for diagnosing but there is no curative treatment except supportive care. Several symptoms of this condition are already usually present in the neonatal period: arthrogryposis, neonatal cholestasis, skin lesions, among others. Usually survival is until the first year of life. We present a newborn whose evolution was rapidly fatal.