Adolescente con síndrome de deleción 22q11.2 y endocrinopatía múltiple / An adolescent with 22q11.2 deletion syndrome and multiple endocrinopathies

Las anomalías endocrinológicas son frecuentes en los pacientes con deleción22q11.2 e incluyen, por orden de frecuencia, hipocalcemia por hipoparatiroidismo primario, talla baja y disfunción tiroidea. Presentamos un caso de deleción 22q11.2 de diagnóstico tardío con afectación endocrina múltiple y diabetes mellitus tipo 1, y se revisan los conocimientos actuales de las manifestaciones endocrinológicas descritas en los pacientes con esta anomalía genética (AU)

The endocrine abnormalities are common in patients with 22q11.2 deletion, and include hypocalcaemia due to primary hypoparathyroidism, short stature and thyroid dysfunction. We present a patient with delayed diagnosis of del22q11.2 who had multiple endocrine involvement and type 1 diabetes mellitus. A review is also made on the current knowledge of the endocrine manifestations described in patients with 22q11.2 deletion (AU)

[An adolescent with 22q11.2 deletion syndrome and multiple endocrinopathies]. / Adolescente con síndrome de deleción 22q11.2 y endocrinopatía múltiple.

The endocrine abnormalities are common in patients with 22q11.2 deletion, and include hypocalcaemia due to primary hypoparathyroidism, short stature and thyroid dysfunction. We present a patient with delayed diagnosis of del22q11.2 who had multiple endocrine involvement and type 1 diabetes mellitus. A review is also made on the current knowledge of the endocrine manifestations described in patients with 22q11.2 deletion.

Deleción 9p-. Disgenesia gonadal asociada a retraso mental e hipoplasia del cuerpo calloso. ¿Síndrome de genes contiguos? / Chromosome 9P deletion: Gonadal dysgenesis associated with mental retardation and hypoplasia of the corpus callosum: a contiguous gene syndrome

Antecedentes: Son muchos los genes que se han implicado en la diferenciación testicular, cuyas alteraciones dan cuadros de trastornos de la diferenciación sexual y cariotipo 46XY. Caso clínico: Recién nacido con hipospadias interescrotal, gónadas palpables y pene hipoplásico. Cariotipo 46XY. Ecografía abdominal: testes y sin restos müllerianos. Buena respuesta al test corto de gonadotropinas. Al año presenta retraso psicomotor, hipotonía. Resonancia magnética con atrofia de sustancia blanca frontotemporal y disminución del cuerpo calloso. Biopsia testicular compatible con disgenesia gonadal. Dada la situación intersexual al nacimiento, el retraso psicomotor y la presencia de dismorfias faciales se solicita cariotipo de alta resolución: deleción 46, XY, del(9p)(p23-pter).ish tel (9p-). Comentarios: Son muchos los genes implicados en la diferenciación testicular, algunos de ellos también influyen sobre el desarrollo de otros tejidos. En el brazo corto del cromosoma 9 se encuentran dos genes, DMRT1 y DMRT2, implicados en la diferenciación sexual, cuyas alteraciones también han sido descritas como causantes de retraso mental. En la evaluación de los trastornos de la diferenciación sexual son muy importantes los signos acompañantes para poder orientar el estudio genético (AU)

Background: Many genes are involved in testicular differentiation. The alterations of these genes are responsible for sexual differentiation disorders with 46 XY karyotype. Case: We report the case of a newborn who had an interscrotal hypospadias, palpable gonads and hypoplastic penis. Karyotype 46 XY. Abdominal ultrasound revealed testes and absence of Müllerian remnants. There was a good response to the short gonadotrophin test. At one year he had signs of psychomotor retardation and hypotonia. The magnetic resonance revealed frontal-temporal atrophy and a decrease in the corpus callosum. Testicular biopsy was compatible with gonadal dysgenesis. A preoperative cystography showed a vaginal remnant. Due to the presence of a sexual differentiation disorder, psychomotor retardation and facial dysmorphism, we requested a high-resolution karyotype: deletion 46, XY, del (9p) (p23-pter). Ish tel (9p-). Discussion: Many genes are involved in testicular differentiation, some of which also affect the development of other tissues. In the short arm of chromosome 9, two genes, DMRT1 and DMRT2, are involved in sexual differentiation. Their alterations have also been described as causing mental retardation. In the evaluation of 46,XY disorders of sex differentiation, the accompanying signs are very important for guiding the genetic study (AU)

[Chromosome 9P deletion: Gonadal dysgenesis associated with mental retardation and hypoplasia of the corpus callosum: A contiguous gene syndrome?]. / Deleción 9p-. Disgenesia gonadal asociada a retraso mental e hipoplasia del cuerpo calloso. ¿Síndrome de genes contiguos?

BACKGROUND: Many genes are involved in testicular differentiation. The alterations of these genes are responsible for sexual differentiation disorders with 46 XY karyotype. CASE: We report the case of a newborn who had an interscrotal hypospadias, palpable gonads and hypoplastic penis. Karyotype 46 XY. Abdominal ultrasound revealed testes and absence of Müllerian remnants. There was a good response to the short gonadotrophin test. At one year he had signs of psychomotor retardation and hypotonia. The magnetic resonance revealed frontal-temporal atrophy and a decrease in the corpus callosum. Testicular biopsy was compatible with gonadal dysgenesis. A preoperative cystography showed a vaginal remnant. Due to the presence of a sexual differentiation disorder, psychomotor retardation and facial dysmorphism, we requested a high-resolution karyotype: deletion 46, XY, del (9p) (p23-pter). Ish tel (9p-). DISCUSSION: Many genes are involved in testicular differentiation, some of which also affect the development of other tissues. In the short arm of chromosome 9, two genes, DMRT1 and DMRT2, are involved in sexual differentiation. Their alterations have also been described as causing mental retardation. In the evaluation of 46,XY disorders of sex differentiation, the accompanying signs are very important for guiding the genetic study.

Tumoración hipofisaria secundaria a hipotiroidismo primario: un caso de hiperplasia tirotropa que simula un adenoma hipofisario / Hypophyseal tumour growth secondary to primary hypothyroidism: a case of a hypophyseal adenoma induced by thyrotropic hyperplasia

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Hipocondroplasia y retraso mental / Hypochondroplasia and mental retardation

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[Incontinentia pigmenti. Initial and long-term characteristics]. / Incontinentia pigmenti. Manifestaciones iniciales y a largo plazo.

We report two cases of incontinentia pigmenti diagnosed in the neonatal period. Both patients presented with disseminated vesicular lesions. Neither patient had extra-dermatological symptoms at diagnosis. The definitive diagnosis was established by cutaneous biopsy. In the initial phase of the disease, the lesions can be similar to those of herpes simplex infection, but characteristic distribution and clinical course allow the differential diagnosis to be established. This disease should be included in the differential diagnosis of vesicular rashes because early detection allows better management of the possible associated systemic manifestations.

Incontinentia pigmenti. Manifestaciones iniciales y a largo plazo / Incontinentia pigmenti. Initial and long-term characteristics

Presentamos dos casos de incontinentia pigmenti diagnosticados en el período neonatal. Ambos consultaron por presencia de lesiones vesiculares diseminadas. Ninguno de los casos presentaba manifestaciones extradermatológicas en el momento del diagnóstico. El diagnóstico definitivo se realizó mediante biopsia cutánea. En la fase inicial las lesiones pueden ser similares a las producidas por virus del herpes simple, pero la distribución y evolución características permiten diferenciar los dos procesos. Es importante incluir este cuadro en el diagnóstico diferencial de los exantemas vesiculosos ya que el diagnóstico precoz permite un mejor tratamiento de las posibles alteraciones sistémicas asociadas

We report two cases of incontinentia pigmenti diagnosed in the neonatal period. Both patients presented with disseminated vesicular lesions. Neither patient had extra-dermatological symptoms at diagnosis. The definitive diagnosis was established by cutaneous biopsy. In the initial phase of the disease, the lesions can be similar to those of herpes simplex infection, but characteristic distribution and clinical course allow the differential diagnosis to be established. This disease should be included in the differential diagnosis of vesicular rashes because early detection allows better management of the possible associated systemic manifestations

Pubarquia precoz de rápida evolución / Rapidly progressive precocious pubarche

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[The Herbst triad: finger clubbing, hypoproteinemia and iron deficiency anemia associated with gastroesophageal reflux]. / Tríada de Herbst: acropaquías, hipoproteinemia y anemia ferropénica, asociadas a reflujo gastroesofágico.

Gastroesophageal reflux with hiatal hernia has been associated with unusual presentations, including rumination syndrome, Sandifer syndrome (reflux esophagitis, iron deficiency anemia and head cocking) and the Herbst triad (iron deficiency anemia, hypoproteinemia and finger clubbing). We report a new case of this rare disease. Lack of awareness of gastroesophageal reflux as a possible cause of these striking symptoms could lead to complications and delayed surgery.

Tríada de Herbst: acropaquías, hipoproteinemia y anemia ferropénica, asociadas a reflujo gastroesofágico / The Herbst triad: finger clubbing, hypoproteinemia and iron deficiency anemia associated with gastroesophageal reflux

El reflujo gastroesofágico asociado a hernia hiatal puede presentarse en la clínica bajo formas inhabituales tales como el síndrome de rumiación, el síndrome de Sandifer (esofagitis por reflujo, anemia ferropénica y peculiares movimientos de torsión de la cabeza) o la denominada tríada de Herbst que incluye anemia ferropénica, hipoproteinemia y acropaquías. Presentamos un nuevo caso de este excepcional y llamativo complejo sindrómico ya que su desconocimiento puede conducir al desarrollo de complicaciones y retraso en la corrección quirúrgica del reflujo gastroesofágico

Gastroesophageal reflux with hiatal hernia has been associated with unusual presentations, including rumination syndrome, Sandifer syndrome (reflux esophagitis, iron deficiency anemia and head cocking) and the Herbst triad (iron deficiency anemia, hypoproteinemia and finger clubbing). We report a new case of this rare disease. Lack of awareness of gastroesophageal reflux as a possible cause of these striking symptoms could lead to complications and delayed surgery

Neurofibromatosis tipo 1 asociada a xantogranuloma juvenil sin evidencia de complicación hematológica / Neurofibromatosis type 1 associated with juvenile xanthogranuloma without evidence of hematologic malignancies

Presentamos el caso de un lactante con numerosas manchas de color café con leche asociadas a múltiples lesiones cutáneas (pápular y nódulos), amarillentas y asintomáticas. El hallazgo de xantogranuloma juvenil (XGJ) en niños con múltiples manchas de color café con leche puede considerarse un excelente marcador de la neurofibromatosis tipo 1 (NF1) e los primeros años de vida cuando puede faltar cualquier otro signo diagnóstico de esta enfermedad. Existe una asociación entre NF1 y XGJ y se han descrito casos de triple concurrencia NF1, XGJ y leucemia mielomonocítica juvenil (LMMJ). El riesgo de desarrollar LMMJ en pacientes con comorbilidad NF1/XGJ sigue siendo objeto de controversia, pero la existencia de XGJ en un niño pequeño con NF1 debe alertar acerca del posible desarrollo de hemopatías malignas

We present the case of a boy with múltiple café au lait spost and multiple yellowish, asymptomatic cutaneous popules and nodules. The association between juvenile xanthogranuloma (JXG) and multiple café au lait sponts can be considered an excellent marker of neurofibromatosis 1(NF1) in the first few years of life, in the absence of the other reliable diagnostic signs of NF1. Association has been shown to exist between NF1 and JXG, and a number of cases involving the triple association NF1, JXG and juvenile myelomonocytic leukaemia (JMML) have been reported. The risk of developing JMML in patients with both JXG and NF1 remains controversial. However, a diagnosis of JXG in an infant with NF1 should alert the physician to the possible development of hematologic malignancies

Talla alta: un enfoque práctico / No disponible

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