Hiperpigmentación en un neonato: recordando la hiperplasia suprarenal / Hyperpigmentation in a neonate: remembering the suprarenal hyperplasia

La hiperplasia suprarrenal congénita (HSC) es una enfermedad endocrinológica frecuente, por defectos enzimáticos en la síntesis del cortisol, con elevación secundaria de ACTH e hiperplasia del córtex adrenal, la mayoría secundaria a déficit de 21-hidroxilasa. Hay formas severas, con déficit completo y manifestaciones en la época fetal o neonatal, y moderadas o no clásicas, con déficit parcial y manifestaciones en la infancia o adolescencia. Presentamos a un neonato masculino, macrosómico, con zonas hiperpigmentación genital y axilar, criptorquidia derecha, con HSC-no clásica, no perdedora de sal, con déficit de cortisol y elevación de 17 hidroxiprogesterona y testosterona, que requirió tratamiento con glucocorticoides. Determinando la importancia de un diagnóstico oportuno y la validez del tamizaje neonatal para pacientes asintomáticos, evitando morbilidad a largo plazo, y alteraciones en el neurodesarrollo.

Congenital adrenal hyperplasia (CAH) is a common endocrine disease, due to enzymatic defects in the synthesis of cortisol, with secondary elevation of ACTH and hyperplasia of the adrenal cortex, the majority secondary to a 21-hydroxylase deficit. Severe forms, with complete deficit and manifestations in the fetal or neonatal period, and moderate or non-classical, with partial deficit and manifestations in childhood or adolescence. We present a male neonatal, macrosomic, with areas of genital and axillary hyperpigmentation, right cryptorchidism, with non-classical HSC, no salt loser, with cortisol deficiency and elevation of 17 hydroxyprogesterone and testosterone, which require treatment with glucocorticoids. It is so important to make a timely diagnosis and the validity of neonatal screening for asymptomatic patients, avoiding long-term morbidity and alterations in neurodevelopment.

Displasia ectodérmica: diagnóstico neonatal / Ectodermal dysplasia: neonatal diagnosis

Presentamos el caso de un neonato sin antecedentes familiares ni prenatales de importancia, con peso bajo para la edad, fascies envejecida, puente nasal ancho, hipotricosis, piel descamativa, apergaminada, seca y hepatomegalia, aparente hipohidrosis con episodios de hipertermia, fenotipo compatible con displasia ectodérmica hipohidrótica, por alteraciones en la diferenciación y desarrollo de estructuras ectodérmicas: piel, pelo, dientes y glándulas sudoríparas, alteración en las señales entre ectodermo y mesénquima, además de mayor riesgo de desarrollar alteraciones inmunológicas y en la supresión de tumores. Este paciente requiere cuidados dérmicos y evitar la hipertemia que puede ocasionar un daño cerebral fatal, tratamiento dental precoz para restaurar la función, monitoreo permanente de función auditiva y oftálmica, consejo genético a la familia; y al asociarse con inmunodeficiencia puede requerir terapias de restitución inmune, tratamientos agresivos de las infecciones asociadas y/o un trasplante de células madre hematopoyéticas, según la evolución clínica.

This is the case of a newborn without family history of important diseases, with low weight for age, aged fascies, broad nasal bridge, hypotrichosis, desquamative skin, parchment, dry and hepatomegaly, apparent hypohidrosis with episodes of hyperthermia, phenotype compatible with dysplasia ectodermic hypohydrotic, by alterations in the differentiation and development of ectodermal structures: skin, hair, teeth and sweat glands, alteration in the signals between ectoderm and mesenchyme, as well as a greater risk of developing immunological alterations and tumor suppression. This patient requires dermal care and avoids the hyperthermia that can cause fatal brain damage, early dental treatment to restore function, permanent monitoring of auditory and ophthalmic function, genetic counseling to the family, and to associate with immunodeficiency, probably, requires therapies of immune restitution, aggressive treatments of associated infections and / or a transplant of hematopoietic stem cells, according to the clinical evolution.

Coronary sinus aneurysm and left ventricular-coronary sinus fistula. Implantation of CRT device.

We describe a 72-year-old man referred for implantation of a cardiac resynchronization therapy device who had previously undergone repeated operations to replace the mitral valve. Retrograde venography of the coronary sinus (CS) to implant the left ventricular (LV) pacing lead revealed aneurysmal dilatation of the CS with LV-CS fistula that hindered-but did not prevent-complete implantation of the system.

Quadricuspid pulmonary valve identified by transthoracic echocardiography.

The quadricuspid pulmonary valve is a rare congenital anomaly. It tends to be clinically quiescent. Its diagnosis by two-dimensional echocardiography could be very difficult because of the anatomical features. We report on the echocardiographic findings of a 66-year-old female patient with mitral and aortic regurgitation of rheumatic origin and severe pulmonary hypertension. There was an aneurismatic dilation of the pulmonary artery trunk allowing visualization of the short-axis view of the pulmonary valve. It showed four cusps of similar size and an important deficit of central coaptation. Very few cases of the quadricuspid pulmonary valve are documented in live patients.

Long-term prognostic importance of transient left ventricular dilation during pharmacologic stress echocardiography.

OBJECTIVES: We sought to evaluate the prognostic significance of left ventricular (LV) transient ischemic dilation (TID) for patients with a positive stress echocardiogram (SE). BACKGROUND: TID during SE has been related to the presence of extensive coronary artery disease, but its long-term prognostic implications have not been reported. METHODS: In all, 99 consecutive patients with a positive SE comprised the study group. LV volumes were evaluated according to the modified Simpson's rule. TID during SE was defined as the presence of an increase in LV end-diastolic volume during the stress test. A clinical history was fulfilled for each patient and all of them were followed up. RESULTS: Of 99 patients, 32 (32.3%) showed TID. Mean age was 65.8 +/- 9.8 years for non-TID group and 70.2 +/- 8.4 for TID group (P = .048). Baseline characteristics and subsequent treatment were similar in both groups. Mean follow-up was 21.4 +/- 15.8 months. In non-TID group the mean survival free of acute myocardial infarction was 47.28 months and 39.7 months in TID group (log rank = 0.012). In the univariate and multivariate analysis only TID and the wall motion score index were found as independent predictors related to long-term prognosis (risk ratio = 6.9; 95% confidence interval = 0.8-59.6; P = .042; and risk ratio = 0.4; 95% confidence interval = 0.18-0.89; P = .047, respectively). CONCLUSIONS: LV TID during SE is an easy and independent prognostic marker. It helps to select patients with increased risk.