Exploring Plasma Coenzyme Q10 Status in Paediatric Dyslipidaemia.

Coenzyme Q10 (CoQ) is a ubiquitous lipid with different biological functions. In blood, there is a close relationship between CoQ status and cholesterol, which strongly supports the study of both molecules simultaneously. The objective of this study was to evaluate plasma CoQ, lipoprotein concentrations and CoQ/Chol ratio in a cohort of paediatric patients with different types of dyslipidaemias. A total of 60 paediatric patients were recruited (age range: 7 months-18 years), including 52 with different types of hypercholesterolemia, 2 with isolated hypertriglyceridemia and 6 with hypobetalipoproteinemia. Plasma CoQ was analysed by HPLC with electrochemical detection, and lipoprotein and cholesterol concentrations by standard automated methods. The lowest CoQ values were detected in patients with hypobetalipoproteinemia and in two cases of liver cirrhosis. Mean CoQ values were significantly higher in hypercholesterolemic patients compared to controls (average values 1.07 µmol/L and 0.63 µmol/L) while the CoQ/cholesterol ratio did not show differences (170 vs. 163, respectively). Mean CoQ values were significantly lower in the group of patients with hypobetalipoproteinemia compared to controls (mean CoQ values of 0.22 µmol/L vs. 0.63 µmol/L, respectively), while those of CoQ/cholesterol did not show differences. Pearson's correlation test showed a positive correlation between the CoQ and cholesterol values (r = 0.565, p < 0.001) and between the CoQ and the LDL cholesterol values (r = 0.610, p < 0.001). Our results suggest that it is advisable to analyse plasma CoQ and cholesterol concentrations in patients with hypobetalipoproteinemia and hypercholesterolemia associated with liver damage.

Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report.

X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy characterized by profound skeletal muscle weakness, respiratory distress, and motor dysfunction. However, pathology is not limited to muscle and can be associated with life-threatening hepatic peliosis. Hepatobiliary disease has been reported in up to 17% of XLMTM patients but has not been extensively characterized. We report on five XLMTM patients who experienced intrahepatic cholestasis in their disease natural history, illustrating the need to further investigate these manifestations. These patients shared presentations that included pruritus, hypertransaminemia, and hyperbilirubinemia with normal gamma-glutamyl transferase, following infection or vaccination. Three patients who had genetic testing showed no evidence of genetic mutations associated with familial cholestasis. In one patient, progression to cirrhotic, decompensated liver disease occurred. Further investigations into the molecular pathomechanism underpinning these clinical observations in XLMTM patients will be important for informing patient care.

Broadening the spectrum of neonatal hemochromatosis.

Neonatal hemochromatosis (NH) has been defined as neonatal liver disorder accompanied by extrahepatic siderosis, and gestational alloimmune liver disease (GALD) is the main cause of NH. We report an atypical case of NH that may have gone underdiagnosed. A male infant was born at term after an uneventful antenatal period. At 7 h of life, he was noted to be tachypneic. Chest X-ray was normal and capillary blood gas analysis showed severe lactic acidosis. An extended blood test showed elevated levels of tyrosine and methionine that, after excluding an inborn error of metabolism, led to the diagnosis of acute liver failure. Hyperferritinemia and elevated transferrin saturation were suggestive of NH. Extrahepatic siderosis on MRI confirmed the diagnosis of NH, so even though the infant was in good general condition, a dose of intravenous immunoglobulin was administered and double volume exchange transfusion was performed. Treatment of a suspected case of GALD and prevention in subsequent gestations is imperative.

Síndrome de hiperemesis cannabinoide / Cannabinoid hyperemesis síndrome

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The Role of Liver Transplantation in Propionic Acidemia.

Despite optimal medical treatment and strict low-protein diet, the prognosis of propionic acidemia (PA) patients is generally poor. We aim to report our experience with liver transplantation (LT) in the management of PA patients. Six patients with PA received a LT at a mean age of 5.2 years (1.3-7.5 years). The indications for LT were frequent metabolic decompensations in the first 4 patients and preventative in the last 2 patients. Two patients presented hepatic artery thromboses that were solved through an interventional radiologist approach. These patients showed a very high procoagulant state that was observed by thromboelastography. Arterial vasospasm without thrombus was observed in 2 patients during the LT surgery. In order to avoid hepatic artery thrombosis, an arterial conduit from the recipient aorta to the hepatic artery of the donor was used in the fifth patient. After LT, patients presented improvement in propionyl byproducts without complete normalization, but no decompensations have been observed. In conclusion, LT could be a good therapeutic option to improve the metabolic control and the quality of life of PA patients. Improved surgical strategies along with new techniques of interventional radiology allow us to perform the LT minimizing the complications derived from the higher risk of hepatic artery thrombosis.

Exposició a tuberculosi pulmonar en una unitat neonatal: decisions diagnòstiques i terapèutiques / Exposición a tuberculosis pulmonar en una unidad neonatal: decisiones diagnósticas y terapéuticas / Exposure to pulmonary tuberculosis in a neonatal unit: diagnostic and therapeutic decisions

Fonament: els nounats tenen un risc incrementat de patir malaltia tuberculosa greu a causa de la seva condició d'immunosupressió. Objectiu: avaluar la incidència d'infecció tuberculosa o malaltia latent en una cohort de nounats exposats a un treballador sanitari d'una unitat neonatal diagnosticat de malaltia tuberculosa pulmonar, així com descriure les estratègies per al seu diagnòstic i tractament. Mètode: per al cribratge inicial es va fer una prova de tuberculina (PT) i una radiografia (Rx) toràcica. En cas de dubte, es practicaria una tomografia axial computada (TC) i un QuantiFERON(R)-TB Gold test. Descartada la infecció, es va iniciar tractament amb isoniazida fins als 6 mesos. A aquesta edat, es va fer una segona PT. Resultats: seixanta nounats van estar exposats al cas índex. La PT va ser negativa tant a l'inici com als 6 mesos. Un nadó presentava una imatge dubtosa en la radiografia toràcica, però la TC i el QuantiFERON(R)-TB Gold test van ser normals. El 88,6% dels nounats van iniciar profilaxi, es va contraindicar en el 3% i hi va haver negativa dels pares en el 8%. Tan sols un pacient va presentar efectes secundaris per isoniazida. El 78% dels casos va completar la profilaxi. Als 12 mesos no es va detectar cap cas de tuberculosi. Conclusions: la incidència d'infecció tuberculosa en nounats hospitalitzats exposats és baixa, però, a causa de la gravetat potencial, la profilaxi amb isoniazida fins als 6 mesos i un cribratge precoç amb una PT i una Rx toràcica poden ser una estratègia vàlida per minimitzar el risc

Fundamento. Los neonatos tienen un riesgo incrementado de sufrir enfermedad tuberculosa grave dada su condición de inmunosupresión. Objetivo. Evaluar la incidencia de infección tuberculosa o enfermedad latente en una cohorte de neonatos expuestos a un trabajador sanitario de una unidad neonatal diagnosticado de enfermedad tuberculosa pulmonar, así como describir las estrategias para su diagnóstico y tratamiento. Método. Para el cribado inicial se realizó una prueba de tuberculina (PT) yuna radiografía (Rx) torácica. En caso de duda, se practicaría tomografía axial computerizada (TC) y prueba del QuantiFERON®-TB Gold test. Descartada la infección, se inició tratamiento con isoniazida hasta los 6 meses. A esta edad se practicó una segunda PT. Resultados. Sesenta neonatos fueron expuestos. La PT fue negativa tanto al inicio como a los 6 meses. Un neonato presentaba una imagen dudosa en la radiografía torácica, pero la TC y el QuantiFERON®-TB Gold test fueron normales. El 88,6% de los neonatos iniciaron profilaxis, se contraindicó en el 3% y hubo negativa de los padres en el 8%. Tan sólo un paciente presentó efectos secundarios por isoniazida. El 78% de los casos completó la profilaxis. A los 12 meses no se detectó ningún caso de tuberculosis. Conclusiones. La incidencia de infección tuberculosa en neonatos hospitalizados expuestos es baja, pero, debido a la potencial gravedad, la profilaxis con isoniazida hasta los 6 meses y un cribado precoz con una PT y una Rx torácica pueden ser una estrategia válida para minimizar el riesgo (AU)

Background. Neonates have an increased risk to suffer severe tuber culosis due to their immunosuppressed condition. Objective. To assess the incidence of tuberculosis infection or latent disease in a cohort of newborns exposed to a healthcare worker of the neonatal unit, diagnosed with pulmonary tuberculosis disease, as well as describe diagnostic and treatment strategies. Method. Tuberculin skin test (TST) and chest X-rays were performed at the initial screening. Chest computed tomography (CT) and QuantiFERON®-TB Gold test were performed on cases where chest X-ray was not clear. Once all diagnostic tests were negative, infants were treated with isoniazid up to 6 months of age. At this age, a second TST was performed. Results. 60 newborns were exposed. TST were negative at baseline and at 6 months. One infant had an abnormal chest X-ray, with normal findings on CT and QuantiFERON®-TB Gold test. 88.6% neonates started with prophylaxis, it was contraindicated in 3% and was refused by the parents in 8%. Isoniazid was withdrawn due to side effects in only 1 infant. Prophylaxis was completed by 78% of patients. At 12 months, no cases of tuberculosis were reported. Conclusions. The tuberculous infection incidence in hospitalized neonates exposed is low but, due to the potential severity, prophylaxis with isoniazid until 6 months and an early screening with TST and chest X-ray is a valid strategy to minimized risks (AU)

Episodio de apnea en un lactante: clínica inicial de meningitis por enterovirus / Apnea as presenting sign of enterovirus meningitis in an infant

Introducción. El diagnóstico diferencial de apnea en el lactante es amplio, e incluye infecciones, reflujo gastroesofágico, convulsiones, alteraciones de vía aérea, atragantamiento, cardiopatías y metabolopatías. Episodi d’apnea en un lactant: clínica inicial de meningitis per enterovirus Neus Rius, Anna Pizà, Cristina Molera, Elisenda Solé, Roger Garcia, Jaume Margarit Servei de Pediatria. Hospital Universitari Mútua de Terrassa. Terrassa (Barcelona) Caso clínico. Lactante de un mes de vida, previamente sano, que consulta por episodio compatible con apnea en el domicilio y con exploración anodina a su llegada a urgencias. A las 12 horas realiza un nuevo episodio de apnea sin bradicardia que recupera con ventilación con bolsa y mascarilla. Pico febril posterior con afectación del estado general y mala coloración. Ante la sospecha de sepsis se realiza analítica, hemocultivo, sedimento de orina y punción lumbar, se envía muestra para estudio de reacción en cadena de la polimerasa (PCR) a enterovirus, y se inicia antibioticoterapia endovenosa. Se traslada a la Unidad de Cuidados Intensivos Pediátricos del hospital de referencia. La evolución es favorable. El cultivo nasofaríngeo y la PCR en líquido cefalorraquídeo son positivos para enterovirus, por lo que se retira la antibioterapia, y se da de alta. Comentarios. La clínica de meningitis en lactantes puede ser muy inespecífica a diferencia de la del niño. El motivo de consulta inicial puede ser decaimiento, vómitos, rechazo del alimento o palidez cutánea, asociados o no a fiebre. La apnea como síntoma inicial aislado de meningitis está poco descrito en la literatura, aunque debe formar parte del diagnóstico diferencial de enfermedades infecciosas. Los enterovirus son el agente etiológico identificado más frecuentemente en meningitis asépticas (80-90%), clínicamente indiferenciables de las meningitis bacterianas. La PCR para enterovirus, con elevada sensibilidad y especificidad, reduce las tasas de hospitalización y tratamiento antibiótico en estos casos(AU)

Introduction. The differential diagnosis of apnea in infants is broad, and includes infections, gastroesophageal reflux, seizures, airway anomalies, choking, congenital heart diseases, and metabolic diseases. Clinical Observation. A previously healthy one-month-old infant presented to the emergency department after an apneic episode at home; physical examination upon arrival was unremarkable. Twelve hours later, he presented a new apneic episode without bradycardia, requiring bag and mask ventilation, and followed by fever and clinical deterioration. A septic work-up was performed, including lumbar puncture and evaluation of cerebrospinal fluid (CSF) for enterovirus by polymerase chain reaction (PCR). The patient was started on empirical antibiotic therapy, and was transferred to the intensive care unit. The nasopharyngeal swab culture and CSF PCR were both positive for enterovirus. Antibiotics were discontinued, and the patient recovered uneventfully. Comments. Symptoms of meningitis in infants can be very nonspecific. The initial reason for consultation may be malaise, vomiting, poor feeding or pallor, with or without fever. Seldom has apnea been reported as initial symptom; however, infectious diseases should be considered in the differential diagnosis of this event. Enteroviruses are the most frequently identified etiologic agents in aseptic meningitis (80-90%), usually indistinguishable from bacterial meningitis. The enterovirus PCR has high sensitivity and specificity and is a very useful tool for diagnosis, helping reduce the hospitalization rates and antibiotic treatment(AU)