Sheldon-Hall syndrome is a rare disease, which belongs to the group of distal arthrogryposis that shows distal joint contractures without primary neurological or muscular involvement. It has an autosomal dominant inheritance pattern, with several genes implicated in its etiopathogeny, although a genetic alteration has been demonstrated only in half of the affected patients. We present a case of this rare disease with neonatal diagnosis in a patient with no family history, in which we could demonstrate a genetic de novo pathogenic variant in TNNT3 gene. We also describe the phenotypic characteristics of this syndrome as well as the diagnosis, management and prognosis of these patients in the long term.

We present a newborn at term with gestational age-appropriate weight that in his second day of life he has seizures due to hyperinsulinemic hypoglycemia. Mother was in treatment with bisoprolol for five years now for recurrent supraventricular tachycardia. Pregnancy was normal without incidences. Diagnosis of hypoglycemia probably due to beta-blockers was made by ruling out other causes. Beta-blocker treatment during pregnancy can have adverse outcomes so it’s important monitoring blood glucose levels, heart rate and blood pressure after birth.

The venous sinus thrombosis is rare in infants and possible infradiagnosed. The suspicion of its existence is usually confirmed due to seizures or other neurological signs, although occasionally it is an incidental finding. The diagnosis is confirmed by an imaging test, usually magnetic resonance. Prognosis depends on the anticoagulant therapy, a controversial issue in neonates, and the extent of the injury. We present two cases that debuted in a different way, the first with epileptic seizure, and the second was an incidental finding during the study of a lymphatic vascular malformation in the cervical region. Both received anticoagulant treatment henceforth the disappearance of the hemorrhagic lesion.

Objective: To know if the administration of SO4Mg before birth to women with preeclampsia to prevent seizures had neurologic effects on their babies.
Subjets and methods: A retrospective study was conducted. We reviewed 125 newborn charts admitted to the neonatal unit care whose mother had preeclampsia from January'05 to December'11.
Results: 125 pregnant women with preeclampsia were included. 59 received SO4Mg. Systolic blood pressure was higher in the group of treatment. Most neonates were delivered by emergency C-section (79.8%). Mean gestational age was 32.9 ± 3.5 in the group of treatment and 34.9 ± 2.8 in the no treatment group (p <0.001). Mean birth weight in the treatment group was 1,588 ± 536.5 g and 1,918 ± 628 g in the other (p <0.002). There were no differences neither on Apgar 1-5-10 min score nor cord blood pH. 5/125 newborn had adverse head ultrasound at discharge. One of them did not receive antenatal magnesium. There were no adverse reactions on mother or babies treated.
Conclusions: Infants born to mother with preeclampsia who received SO4Mg as antihypertensive had a lower gestational age and birth weight. Incidence of adverse head ultrasound at discharge is higher in the group of no treatment. Antenatal SO4Mg is safe for women and in the perinatal period. More studies are needed to define the better dosing for neuroprotection.

Neonatal units entering vulnerable children undergoing procedures and medications not without risk, sometimes with damaging consequences for the patient. We report a case of extremely low birth weight newborn who presented early cholestasis and fulminant coma developed at 17 days of life by overdose of phenobarbital, requiring extrarenal depuration therapy (total exchange transfusion) for resolution. In the etiology, diagnosis and management of this condition we learn several important lessons for future clinical practice.

Congenital cutaneous candidiasis is an uncommon infection due to Candida spp. which develops within the first week of life. It has usually a benign and self-limited course although there are serious cases of systemic disease.
We review the cases of two newborns with disseminate erythema present at birth. Both of them showed a rapid evolution to a papulo-pustular rash. Candida Albicans was isolated in cultures of the cutaneous lesions. After topical treatment, newborns presented a favourable outcome without any complications.
Risk factors, physiopathology, clinical presentation and outcome of congenital cutaneous candidiasis are revised.

Introduction: Neonatal presentation of a vesicular dermatosis puts many differential diagnoses.
Case report: Newborn female who presented, in the first day of life, vesicular lesions of linear distribution, more pronounced in lower extremities. In day 4 started intravenous flucloxacillin because of secondary infection of the lesions (10 days of treatment). Markers of systemic infection were negative, emphasizing only eosinophilia. Skin biopsy showed the vesicular stage of incontinentia pigmenti. The evolution was characterized by recurrence of lesions in the first weeks of life and subsequent development of warty lesions. Her mother had similar lesions in the first days of life and now she has scarring alopecia and hypopigmentation of the lower extremities.
Conclusion: Incontinentia pigmenti is a rare systemic genodermatosis affecting women. The typical skin lesions associated with similar story in the women of the family suggests this clinical entity.

Cerebral stroke (CS) is a relatively common pathology in the perinatal period. Recently, prothrombotic factors are acquiring special protagonism and can be present in up to 68% of cases. Cranial sonography is the first diagnostic option, but the MRI is the gold standard technique. We carry out a review of casuistry in a third level hospital and we present two cases of perinatal stroke where it was found hereditary thrombophilia. Only 28% showed focal injuries in first ultrasound study, subsequently confirming hemorrhagic lesion by cranial MRI. All ischemic CS presented normal initial cranial ultrasound. For this reason, we would like to emphasise the desirability of realization of cranial MRI in neonates with focal neurological symptoms or signs, even when the first cranial ultrasound does not show alterations. In the same way, when vascular ethiology is suspected, a screening of prothrombotic factors should be studied.

Congenital medulloblastoma is one of the most frequent pediatric intracranial tumors, however, it is unusual its presentation before the two months of life. We are presenting the case of a new-born infant with a giant congenital medulloblastoma, with symptoms in the immediate neonatal period and atypical location. This kind of tumor must be taken on account when making a differential diagnosis of congenital ventricular hydrocephalus.

Introduction: Enteroviruses are one of the most common causes of fever in the newborn. The diagnosis can be made by RT-PCR (reverse transcriptase polymerase chain reaction) in blood and cerebrospinal fluid (CSF). Specific therapeutic options for severe cases are limited. Intravenous immunoglobulin infusion (IVIG) has been used with variable results.
Objective: Analyze symptoms, diagnosis, and treatment of enterovirus disease in newborn.
Patients and methods: Retrospective study of febrile neonates admitted to a Neonatal Service of a tertiary hospital from February 2008 to February 2010.
Results: 2,212 neonates were admitted, 10 of them had an enterovirus infection. Fever was the first symptom in 9 patients, beginning between the 5th-17th days old. Patients were diagnosed by viral culture or RT-PCR of CSF. They all received supportive treatment and antibiotics until tests results. Two patients had severe disease and received treatment with IVIG. All survived, one with a cerebral haemorrhage.
Conclusions: The current diagnosis is based on the use of RT-PCR and allows for more sensitive and rapid results. Limited studies are available about treatment. IVIG has been associated with rapid viremia and viruria decrease, with good tolerance, so it could be part of treatment in those patients with severe disease.

We present a case of a 6-day newborn attended at the health center, whose mother was contaminated with Streptococcus agalactiae or group B (GBS) during pregnancy and had received four doses of ampicillin intrapartum. The reports did not mention the presence of GBS or anything regarding intrapartum antibiotic prophylaxis. The newborn had jaundice so we sent him to the hospital and he was admitted to neonatal service for phototherarapy with bilirubin of 23.1 mg/dL and was discharged with bilirubin of 10 mg/dL and normal physical examination and laboratory and breast feeding well established. After discharge, at 13 days old, we took urine culture to discard contamination by SGB and the 15th day of age was confirmed and diagnosed as a newborn contaminated by SGB and began treatment with oral amoxicillin for 10 days, and good health controls and normal subsequent urine cultures.

Tetrasomy X is a rare chromosomal aberration caused by the presence of 4 X chromosomes because a defect in meiosis. It was described in 1961, around 50 cases in the literature have been reported. The case treats about a child with the pregnant was by IVF with an ovule donation. She came to our clinic for prenatal ventriculomegaly detected, in the explorationa particular face motivated the genetic study, that confirmed presence of 4 X chromosomes instead of 2 (48, XXXX).

Classic rhizomelic chondrodysplasia punctata (CRCP) is a rare multisystem disease, autosomal recessive disorder. It is due because a peroxisomal metabolism alteration that determine deficiency of the plasmalogen biosynthesis and the alpha oxidation of phytanic acid. It is characterized by proximal shortening of the limbs, punctuate calcifications of the epiphyses, facial dysmorphia, developmental delay and early lethality. We present two cases of CRCP type I with two different forms of presentation, one severe and another one mild or bening, in relation with the residual enzyme activity and we revise the main clinical aspects.

Introduction: Synthetic oxytocin (Oxt) is the most commonly used drug to induce or augment labour contractions. The objective of the study is to evaluate the effect of Oxt used during labour on exclusive breastfeeding.

Patients and methods: This job is part of an observational descriptive study which primary objective is to investigate the effect of intrapartum oxytocin administration on primitive neonatal reflexes. Twenty women with their first term pregnancies were studied. Inclusion criteria were: healthy primiparae with a single gestation at term and vaginal delivery induced or augmented with Oxt. Three months following the birth all mothers were contacted by telephone to assess feeding.

Results: Women breastfeeding exclusively had received a significantly lower average dose of Oxt than those women who were not exclusively breastfeeding at 1 and 3 months postpartum (p

Conclusion: Synthetic Oxt used during labour may have negative influence on breastfeeding.

Streptococcus bovis is a nonenterococcal, group D streptococcus, which frequently causes infections in immunocompromised adults and exceptionally cases of invasive infections in neonates, often caused by the variant 2 of the biotype II. It is important the correct microbiological identification because the treatment and prognostic are very different from other streptococcus.

We report a case of a 9-day-old neonate with sepsis and meningitis with seizures and intracranial bleeding, with CSF and blood isolation of S. bovis biotype I, with good response to ampicillin and cefotaxime treatment. This is the first case in our service and probably the first documented in the literature according to the bibliography review. We comment the most interesting aspects of the affection.

Introduction: Although cerebrovascular stroke is a rare disease in full-term newborns but is an important cause of neonatal morbidity and mortality. Focal seizures are the most common form of presentation with a good response to therapy.

Objectives: Review of ischemic stroke in full-term newborns and analyze of the possible causal and prognosis factors.

Patients and methods: A retrospective study of full-term newborn diagnosed with ischemic stroke admitted to the Neonatology Section of Hospital «Miguel Servet» in Zaragoza in the last 20 years. In each case we collect personal and family history, perinatal history, clinical presentation, complementary tests and neurological.

Results: We report a total of 12 cases. All the cases are strokes of the middle cerebral artery, most left. All but one appeared as focal seizures with good response to anticonvulsant therapy. Neuroimaging was essential for diagnosis. Evolution without sequelae was observed in 7 cases. The motor deficit was the main sequelae, mild in all but one case, which also teamed cognitive impairment and epilepsy.

Conclusions: These are rare entities, unable to identify the etiology in most cases. The early focal seizure is the most common with good therapeutic response. Neuroimaging techniques are essential for diagnosis. The short-and long-term evolution is usually favorable. The most common sequelae is focal motor deficit. There are usually no prognostic factors.

Transient neonatal pseudohypoparathyroidism is an uncommon pathology that causes late neonatal hypocalcemia, hyperphosphatemia and high levels of parathyroid hormone (PTH), which reflects peripheral resistance to its action. It is a rare cause of late neonatal hypocalcemia and the biochemical defect appears to lie in a functional immaturity of renal PTH receptors. High doses of calcium and vitamin D are necesary for its correction. Its self-limited evolution differences it with other persistent pseudohypoparathyroidism. We report a case of a premature newborn with intrauterine growth retardation who presented this pathology. We analyze the clinical and biochemical findings and differential diagnosis and management of this rare disorder.

We analyse the clinical manifestations and the differential diagnosis of inborn errors of metabolism during the neonatal period. The early identification of patients at risk for these diseases enables us to undertake studies to achieve the diagnosis and initiate specific therapy, thus improving the prognosis.

Inborn errors of metabolism are rare at the individual level, but are common at the collective level, due to the great number of entities described in recent years. The first signs are often detected during the neonatal period. The advances in the diagnosis and treatment of these diseases have substantially improved the prognosis of many of them, while they have also enabled us to prevent new cases through genetic counseling and prenatal diagnosis. For these reasons, it is of the utmost importance that general pediatricians and neonatologists famil-iarize themselves with these disorders, since they need to be able to identify those patients that might benefit from metabolic studies and specific treatment.

We report a case of congenital syphilis that presented with severe respiratory compromise, hepatosplenomegaly and early neonatal sepsis. Although the STORCH gestational serological markers had been negative, since the clinical suspicion of congenital infection persisted, the serological test was repeated and was found to be positive for rapid plasma reagin. The only sign of syphilis in this case was the late development of palmoplantar scaling over an erythematous background, which occurred after the diagnosis had been established and intravenous treatment with penicillin G had begun, although a clinical response had already been achieved with ampicillin and gentamicin, administered because of the initial suspicion of early neonatal sepsis.

Hiccups are defined as a sudden, involuntary and intermittent twitching of the diaphragm, associated with early and abrupt closure of the glottis by the end of the inspiration, and it create a distinctive sound. It is classified as transitional hiccups if it last less than 48 hours, persistent hiccups if it last more than 48 hours, and intractable hipccus if it last longer than 1 month. The acute form is a benign and transient problem, often without known precipitating cause. However, when it is persistent, it is often related to organic causes (digestive, respiratory, cardiac...), sometimes of serious etiology, especially in children with a manifestation of neurological dysfunction. In this cases, their admission to been study is indicated. We present a newborn with a crisis of prolonged and continuous hiccups accompanied by respiratory dysfunction, associated with moderate gastro-esophageal reflux, condition is not mentioned so far associated with neonatal persistent hiccups. We establish the differential diagnosis of neonatal persistent hiccups, little reported in the medical literature.

Lues, or syphilis, is the infection produced by Treponema pal¬lidum. It is transmitted through sexual contact, or from mother to infant by means of vertical transmission. The latter results in congenital syphilis, the subject of this review. We present a case of congenital syphilis, followed by a brief discussion of the epidemiological, diagnostic and therapeutic factors.

Cri-du-chat syndrome, or monosomy 5p-, is an uncommon genetic anomaly, caused by the deletion of a segment of the short arm of chromosome 5, that exhibits a wide phenotypic and cytogenetic variability. The incidence ranges from 1/15,000 to 1/50,000 live-born infants, although the frequency may be higher. We report the case of a newborn infant with some of the phenotypic characteristics associated with the syndrome and a deletion in 5p15.2 due to a maternal translocation, which required confirmation by molecular techniques. We also review the more interesting clinical and cytogenetic aspects of this condition.

A free radical is any chemical species that has one or more unpaired electrons. These species usually take part in chain reactions. Lipids, nucleic acids, carbohydrates and proteins are susceptible to free radical attack, which produces in vivo oxidative damage that degenerates into cellular necrosis or apoptosis. To combat these oxidation systems, the cells are equipped with enzymes and antioxidant molecules. The delicate balance between oxidant and antioxidant mechanisms, which exists in the organism under conditions of normoxia, is defined as oxidative stress. An imbalance in these systems, in particular, oxidative stress derived from a lack of maturity of the antioxidant systems in the newborn infant, participates directly or indirectly in the clinical onset of disease, playing a role in both the pathogenesis and the prognosis. Moreover, there are conditions inherent in the newborn infant that increase his or her susceptibility to pulmon¬ary damage, making the lung a critical organ in the process of adaptation of the infant to extrauterine life, especially since the lung continues to mature after birth. In any case, newborn infants are known to be more resistant to oxygen toxicity, possibly due, at least in part, to their ability to increase antioxidant enzyme levels. Thus, the authors conclude that the knowledge of these signalling pathways may contribu¬te substantially to the development of future treatments. Although, at the present time, antioxidant therapy is being stu¬died in experimental models, it is not yet a routine practice in newborn infants.

With the advances in prenatal ultrasound, most congenital malformations can be diagnosed prior to birth, allowing for the planning of early treatment. Lymphangiomas are the most common benign congenital lesions observed with this technique. In some cases, they are associated with other malformations or chromosomal anomalies.

The seriousness of a lymphangioma depends on the type, location, extension and whether or not other structures are involved.

The most widespread therapeutic option is surgery, the objective of which is the complete resection of the lesion without damaging adjacent structures.

Although there are other treatment options, we think that the choice of the approach depends on each patient, on the site of the lymphangioma and on the involvement of other structures. We discuss these aspects in the present review.

Objectives: To examine the results of the program of early detection of hearing loss in newborn infants (NB) in our hospital during 2001 and 2004.

Patients and methods: Otoacoustic emissions (OAE) were evaluated in 2,461 (2001) and 2,549 NB (2004) and, if the results were negative, the evaluation was repeated before one month had elapsed. The NB with a second negative OAE test were sent to the otorhinolaryngology service (ORL), where their evaluation was completed, including assessment of the auditory brainstem response (ABR).

Results: The first OAE test was negative in 260 (10%) and 145 (5%) NB, respectively. In all, 234 (2001) and 144 (2004) continued this first stage; 37 (16%) and 35 (24%) NB, respectively, failed to pass the second OAE test, and 1.51% and 1.37% in each year were referred to ORL, whereas 29 children did not complete the diagnostic phase. Of the 72 NB with suspected auditory dysfunction, 59.72% (n= 43) completed the program, 30.23% had been admitted to the hospital, 23.25% had risk factors and 48.83% had bilateral negative results on OAE testing. The ORL service confirmed hearing loss in 23 NB (53.48%): sensorineural in 57.14% (62% were boys with no risk factors, and it was bilateral in 75% and profound in 50%) and conductive in 42.16%.

Conclusions: Our overall incidence of sensorineural and conductive hearing loss was 4.54/1,000 NB, and that of deep sensorineural hearing loss was only 1.87/1,000 NB. In all, 71% of the infants with hearing loss were normal and had no risk factors, and there was a male predominance. The capacity for detection of OAE was significantly greater in 2004; the referrals to ORL were appropriate, the rate of loss to follow-up was low in the first stage and elevated in the confirmation stage.

A descriptive study was conducted to determine the disease course in patients with a history of neonatal cholestasis with regard to a number of conditions, and to compare it with that observed in children at other centers. The children enrolled had been diagnosed in the Department of Pediatrics of Reina Sofía University Hospital. Data were drawn from pre-coded cards, completed when the patients were seen for the first time, and from their clinical records. Appointments were arranged for the children in which their clinical case and the results of physical examination and lab testing were recorded in coded cards. Data were analyzed using the SSPS software package. Neonatal cholestasis was diagnosed in 91 children from 2002 to 2007. The etiologies, clinical course and laboratory testing are discussed and described. The disease course was similar to that described in other series, except in transplanted children, who had a poorer course, and in the cases of neonatal hepatitis, all of which had a favorable course, probably because several of these patients had transient neonatal hepatitis. Referral to tertiary care was typically late and should be especially addressed in continuing medical education activities. 

Introduction: The neonatal alloimmune thrombocytopenia (NAIT) is the commonest cause of early isolated severe thrombocytopenia in the healthy newborn. It's the result of maternal alloimmunization against fetal platelet antigens. However, the pathophysiologic mechanism is not well known yet. Alloantibodies cross the placenta in early stages of pregnancy provoking serious complications in the newborn such as intracranial hemorrhage.

Case report: We present two cases of in utero intracranial hemorrhage caused by TNAI. In one of them a large intraparenchymal hemorrhage (IPH) was the first clinical symptom, how­e­ver he recovered platelet count with just one transfusion of an aleatory donor, not needing further treatment. The second one exhibited at first an intraventricular hemorrhage (IVH) and was treated with serial transfusions of HPA-1a negative platelets and intravenous immunoglobulin (IVIG).

Discussion and conclusions: The NAIT appears commonly as an isolated and severe thrombocytopenia in the newborn period. The diagnosis is made after excluding other causes of neonatal thrombocytopenia, and is confirmed proving the presen­ce of maternal antiplatelet alloantibodies. Due to the severity of its consequences, when confronted with the suspicion of TNAI, a platelet transfusion should to be performed immedia­tely preferably with negative antigen platelets to avoid bleeding. Since there is a high risk of recurrence in following gestations the availability of an established protocol is recommended. The future challenge is the establishment of antenatal screening programs similar to that performed in Rh isoimmunization.

Introduction: A percentage of term newborns develop jaundice in the first week of life. The main purpose is to avoid the onset of encelopathy. The current tendency of early discharge in maternity hospitals is related to a high incidence of hyperbilirubinemia that requires intensive therapy. Exchange transfusion (ET) is a technique, though invasive allows a rapid decrease of bilirubin and the minimization of the neurological damage risk.

Purposes and objectives: To know about the clinical and epidemiological characteristics of the NBs who require exchange transfusion and the complications derived from the technique.

Patients and methods: A retrospective study of the medical records of NBs ≥35 weeks and ≤28 days of life who were admitted at the Neonatology Unit of Hospital Universitario Reina Sofía de Córdoba (HURS) during the last 6 years and who had to undergo an ET. The following variables have been analyzed: medium gestational age, sex, jaundice etiology, lactation type, hours of life at the moment of the technique, maximum concentration of serum bilirubin, need or not of repetition. The complications associated to the technique and the needs of repetition have also been revised.

Results: 16 newborn with extreme hyperbilirubinemia required exchange transfusion have been diagnosed. The most common etiology was the isoimmunization ABO immunization (56.25% followed by Rh disease (37.5%). There were no differences between sexes. Up to 68.75% of the newborn received exclusive breastfeeding. The mean hospital stay was of 7 days. The most common adverse event was thrombocytopenia. An increase of the respiratory work and bradycardia has been detected in only one case. No case was diagnosed with convulsions, kernicterus, sepsis or heart failure. There was one case with point form intestinal perforation with a later evolution. The acoustic otoemissions and brain echography were normal in all the cases. It was necessary to repeat the ET in 2 NBs with isoimmunization Rh.

Conclusions: Most of the adverse events associated with the technique are haematology, asymptomatic and treatable impairments.

Aim: To review the tumors diagnosed in newborns (≤28 days old) in Hospital Universitario Reina Sofía in Córdoba, Spain, from January 1998 to January 2007 and to analyze their histological and clinical features. To determine the percentage of tumors that had been diagnosed prenatally. We should point out that the Unit of Oncology was opened in our hospital in June 2003.

Patients and methods: The medical records of patients with neonatal tumors diagnosed over the previous 11 years in our hospital were retrospectively reviewed. The variables analyzed were: sex, number of cases per year, percentage of tumors diagnosed prenatally, age at clinical diagnosis, signs and/or symptoms at diagnosis and type of tumor (histological diagnosis and localization). We also analyzed the clinical and therapeutic aspects and outcome of neuroblastomas.

Results: Of the 19 tumors diagnosed in newborns, 68.18% of the infants were boys with a mean age at diagnosis of 9.7 days. Nine neonates had a prenatal diagnosis. The most frequent finding on physical examination was the identification of a mass in up to 68% of the cases. The most common tumors were neuroblastomas (27.27%, 4 patients).

Conclusions: Due to the widespread use of prenatal ultrasonography, the diagnosis of neonatal tumors is established earlier. The most common tumors detected during the neonatal period are solid, mainly neuroblastomas. The natural history of neonatal tumors differs from those found in older children and the histological pattern is not determinant of the outcome.

The gestational trophoblastic disease with a complete hydatidiform mole and a alive twinfetus is an infrequent obstetrical complication. As it carries an important risk of complications for both the mother and the fetus, since the gestations are only a few which we can see their evolution, as a result we know little about the pathology than can appear in the newborn.

We report a case of a twin pregnancy with these characteristics, which ended with a cesarean section at by 32+3 weeks of gestational age. During the admission, the newborn had data of disseminated intravascular coagulation without clinical manifestations, requiring treatment with K vitamin and a spontaneous resolution. As we discarded other causes, these alterations were attributed to the trophoblastic disease.

We haven't found on the literature other cases with coagulation disorders on trophoblastic gestations, maybe because of the infrequency of a natural evolution on these cases. We must take this new aspect into account, since it can constitute an added risk for the newborn.

The subcutaneous fat necrosis in the newborn baby is a self-limiting panniculitis that usually occurs in full-term infants as a consequence of perinatal asphyxia. This type of panniculitis appears in the first 4 weeks of life. The prognosis is usually good with complete regression. Despite of that, potentially life-threatening complications as hypercalcemia can arise even 6 months after the skin lesions appear. We present a newborn baby with a history of perinatal asphyxia, typical skin lesions and late clinical hypercalcemia.