Spectrum of hemifacial microsomia in a pre-term newborn: case presentation and literature review

The spectrum of hemifacial microsomia, or facio-auriculo-vertebral spectrum, is a complex of craniofacial and vertebral anomalies. Axis malformation is microtia, more often on the right side of 3:2. It may be associated with mandibular hypoplasia and vertebral malformations. It is more frequent in males and in twin pregnancies. Clinical case: Newborn male, preterm, of 29.5 weeks gestational age, twin product, second twin pregnancy, dichorionic and diamniotic, born by cesarean section, which presented hemifacial microsomia, microtia of the left Tanzer 3 and the right auricle of low implantation with a backward rotation, left appendices and macrostomia. A thoracoabdominal X-ray found hemivertebrae in the cervical and dorsal area, which discussed genetic performing diagnosis of the hemifacial microsomia spectrum. An ear TAC is done, the bone atresia of the left ear meeting at the level of the left ear without evidence of tympanic membranes and with a dysplastic oscicular chain attached to the lateral wall of the attic. Discharged at 78 days of chronological age with 6 days of age, corrected with the consultation of neonatal high-risk follow-up. Conclusion: Facial asymmetry must be widely evaluated in patients with microtia, including deliberate search of renal, cardiac and spinal-level conditions, in order to diagnose pathologies such as the spectrum of hemifacial microsomia early

Congenital fiber-type disproportion myopathy: a case study

Congenital fiber-type disproportion myopathy causes impaired muscle maturation or development. It is characterized by moderate to severe hypotonia and generalized muscle weakness at birth or during the first year of life, especially in the lower extremities. It is inherited as an autosomal recessive, dominant and X-linked. It is diagnosed by clinical data confirmation, generalized hypotonia and a muscle biopsy in which muscle fibers type I are smaller in caliber, 12% smaller than those of type II and type I fibers are more common than type II. Treatment is multidisciplinary. The following describes the case of a patient who was born in the ‘‘Dr. José Eleuterio González’’ University Hospital in Monterrey, N.L, who presented clinical and muscle biopsy compatible with this myopathy

Lupus neuropsiquiátrico en edad pediátrica. Reporte de un caso y revisión de la literatura

Las manifestaciones neuropsiquiátricas (MNP) se presentan en aproximadamente 25% de los niños y adolescentes con lupus eritematoso sistémico (LES). En 70%, la participación de MNP se producirá en el primer año a partir del momento del diagnóstico. Las presentaciones más comunes son: cefalea (66%), psicosis (36%), disfunción cognitiva (27%) y enfermedades cerebrovasculares (24%). Entre los factores relacionados con el compromiso neuropsiquiátrico se encuentran: autoanticuerpos como las linfotoxinas, membrana citoplasmática, antineural, antirribosomal P, antineurofilamento, y niveles altos de citocinas (interferón β e interleucina 6). Los anticuerpos antifosfolípidos+ pueden estar implicados en la patogénesis de varias manifestaciones de LES-NP incluyendo corea, enfermedades cerebrovasculares y convulsiones. El tratamiento se basa principalmente en inmunosupresores en combinación con altas dosis de prednisona y una segunda línea de agentes como la ciclofosfamida o la azatioprina. La evolución de los niños con LESP-NP es relativamente buena, la supervivencia global es 95% a 97%; 20% de los niños experimentan un brote de enfermedad durante la infancia y 25% tienen evidencia de daño neuropsiquiátrico permanente. Esta revisión describe las manifestaciones neuropsiquiátricas del LES en edad pediátrica, los retos para hacer el diagnóstico y actuales opciones de tratamiento

Efficacy and safety of ultrasound-guided internal jugular vein catheterization in low birth weight newborn

Central venous catheterization is not the first choice of vascular access in neonates. Success depends on the size of the vessel and the skill of the health professional performing the procedure. The internal jugular vein provides a predictable path for central venous cannulation, although it is more difficult to cannulate infants than adults and even more difficult in smaller newborns. METHODS: We conducted a prospective study in 100 newborns, in which a 4 Fr ultrasound-guided central venous catheter was placed in the right internal jugular vein (RIJV). The study population was low birth weight (LBW) newborns <2500g, very low birth weight (VLBW) newborns <1500g and extremely low birth weight (ELBW) newborns <1000g. RESULTS: Background:There were 53% female patients, mean gestational age was 31weeks, mean weight 1352g and the CVC was placed at a mean of 12days of extrauterine life. Birth weight distribution was 39% LBW; 33% VLBW and 28% ELBW. A mean of two (1-8) attempts were necessary with a procedure duration of 16.8 (10-40) minutes. Success of RIJV catheterization was 94%. One attempt was necessary in 50% and up to 5 attempts in 95.7%. Success by weight was VLBW, 97.2%; ELBW, 92.9%; LBW, 91.7%. A venous hematoma occurred in 5% of cases. CONCLUSIONS: Ultrasound-guided RIJV cannulation with real-time visualization to gain access to the central venous circulation in low birth weight newborns is effective and safe

Traumatic asphyxia

Traumatic asphyxia is a rare condition in children that usually occurs after severe compression to the chest or abdomen. We report 3 cases in patients 18, 20, and 36 months of age who presented signs and symp- toms of traumatic asphyxia after car accidents. Two clinical features were consistent in all 3 patients: multiple petechiae on the face and bulbar conjunctival hemorrhage; 2 patients had facial cyanosis, and 1 had facial edema. In children, the number of clinical manifestations that should be evi- dent to diagnose traumatic asphyxia has not been ascertained. However, in any history of trauma with compression of the chest or abdomen and signs of increased intravenous craniocervical pressure, traumatic asphyxia should be suspected

Sensitivity of histological chorioaminionitis and premature rupture of membranes for neonatal sepsis and its risk factors

Set the sensitivity of the histopathological diagnosis of chorioamnionitis (CAMH) for early diagnosis of neonatal sepsis and the relationship between histological chorioamnionitis and premature rupture of membranes and neonatal sepsis. Materials and methods: Prospective, observational study and diagnostic test performed in the Neonatology Service of the ‘‘Dr. José Eleuterio González’’ University Hospital. Epidemiological variables were collected from mothers and newborns. The relationship between histological chorioamnionitis with premature rupture of membranes and early neonatal sepsis was established. Results: We recorded 3694 births. Of these, 122 patients were studied as potentially infected, of whom 37 patients were excluded (2 by transfer to another hospital and 35 by not finding a histopathological study of the placenta). The study included 85 newborns. Of these, 43 (50.5%) developed clinical and laboratory data of early neonatal sepsis, the rest (n = 42, 49.5%) were healthy newborns. The sensitivity of histological chorioamnionitis with premature rupture of membranes (PRM) of more than 24 h was 81% for neonatal sepsis and 51% without. The risk factors for neonatal sepsis were: Mother with infection (p < 0.001), weight <1500 g (<0.001), gestational age <28 weeks (<0.05), APGAR score <6 in 5 min (p < 0.05). Conclusions: Placental chorioamnionitis with premature rupture of membranes > 24 h has an 81% sensitivity for neonatal sepsis. A newborn with histological chorioamnionitis has a 51% sensitivity for neonatal sepsis

Appendicoumbilical fistula, a cause of an umbilical mass with drainage

Reporte de un caso de una fístula apendico-umbilical

Spondylothoracic dysostosis, Jarcho Levin syndrome: case report

Dysostosis spondylothoracic, or Jarcho Levin syndrome, is characterized by a short neck and thorax, a protruding abdomen, abnormal vertebral segmentation and fusion posterior costal resulting in thoracic restriction or respiratory failure and scoliosis. The prevalence is estimated at 1 in 12,000 live births for the people of Puerto Rico and 1 per 200,000 for the rest of the world. It is inherited in an autosomal recessive manner and the only related gene is MESP2. Clinical case: Newborn male, who during the first hour of life develops perioral cyanosis, thoracoabdominal dissociation and polipnea, requiring endotracheal intubation and mechanical ventilation for respiratory impairment, finding thoracoabdominal costovertebral abnormalities with an x-ray, and a conditioning restrictive pattern like a crab. During the physical examination, we found horizontal eyelid openings, right atrial appendage, straight nasal bridge, short thorax and asymmetry and hypertrichosis, predominantly in the back. A diagnosis of dysostosis spondylothoracic is confirmed, and the patient was discharged at 7 days of age, with follow up neonatal consultation at high risk

Vascular assessment of the right internal jugular vein in low birth weight newborns

Objective: To determine the dimensions and depth of the right internal jugular vein (RIJV) in low birth weight newborns by ultrasound and assess the differences in weight and determine the relationship of the vein with the carotid artery. Method: We performed a vascular assessment of the RIJV in 100 low birth weight newborns. The subjects were divided into three groups, low birth weight (LBW) newborns, 52500 g; very low birth weight (VLBW) newborns, 51500 g; and extremely low birth weight (ELBW) newborns 51000 g. Results: Of the newborns, 39% had LBW, 33% had VLBW, and 28% had ELBW. The medians were gestational age 31 weeks, weight 1300 g, anteroposterior diameter of the RIJV 2.2 mm, and the distance from the skin–RIJV 3.6 mm. In LBW newborns, the median anteroposterior diameter of RIJV was 2.7 mm; in LBW newborns 2.2; in ELBW newborns 1.9 (p50.001); the median distance from skin to RIJV for LBW newborns was 4.1mm; for VLBW newborns, 3.6 and for ELBW newborns 2.9 (p50.01); differences that were statistically significant. Conclusions: In low birth weight newborns, the diameter and depth of the RIJV is directly proportional to the weight of the subjects studied

Comparison of an increased waist circumference with a positive hydrogen breath test as a clinical predictor of lactose intolerance

ABSTRACT Introduction. Lactose intolerance is a common disease in pediatrics, and its wrong diagnosis will lead to morbidity. The primary objective of this study was to assess the usefulness of an increased waist circumference during the hydrogen breath test as a predictor of lactose intolerance. The secondary objective was to analyze the impact of body mass index, waist circumference measurement, and age on the abdominal distension of patients with lactose intolerance. Population and methods. A total of 138 subjects aged 3 to 15 years were included. They underwent serial measurements of the waist circumference and hydrogen levels in the breath every 30 minutes over 3 hours during the hydrogen breath test. Results. Out of the entire sample, 35 (25.4%) patients had lactose intolerance. An increase of 0.85 cm in waist circumference compared to the baseline waist circumference results in a sensitivity of 88% and a specificity of 85% to predict lactose intolerance (odds ratio: 42.14, 95% confidence interval: 13.08-135.75, p ≤ 0.001). The body mass index and waist circumference measurement did not affect abdominal distension (p= not significant); however, age modified the time of distension. Conclusions. A 0.85 cm increase in waist circumference compared to the baseline waist circumference during the hydrogen breath test is a useful parameter for the diagnosis of lactose intolerance in pediatrics. Variations in relation to body mass index and waist circumference did not affect the usefulness of an increased waist circumference, unlike age. Key words: lactose intolerance, waist circumference, diagnosis, exhaled hydrogen breath, child