Asociación de craneofaringioma y síndrome de Klinefelter en la transición puberal: un desafío diagnóstico / Craniopharyngioma and Klinefelter syndrome during the pubertal transition: A diagnostic challenge

Los craneofaringiomas son de los tumores hipofisarios más frecuentes en la niñez y, sea por su evolución o por el tratamiento que requieren, pueden comprometer el desarrollo puberal. El síndrome de Klinefelter es la causa más frecuente de hipogonadismo hipergonadotrópico en el varón. La presentación concomitante de ambas entidades es extremadamente baja (1/10(9)) y plantea un interrogante acerca de una probable asociación fisiopatológica. Se presenta el caso de un paciente belga de 18 años, con diagnóstico de craneofaringioma en la niñez y panhipopituitarismo luego del tratamiento quirúrgico y radioterápico. Al llegar a los 14 años, se inició la inducción puberal con gonadotropinas. Ante la falta de respuesta clínica, se completó una evaluación genética, que evidenció, de manera homogénea, una trisomía XXY. La falta de respuesta al tratamiento de inducción con gonadotropina exógena reveló la asociación de hipogonadismo primario y secundario, que demostró la importancia del seguimiento multidisciplinario que estos pacientes requieren.

Craniopharyngioma is the most common pituitary tumor in childhood. It can compromise the pubertal development because of its evolution or treatment. Syndrome of Klinefelter is the most common cause of hipergonadotrophic hypogonadism in males. The concomitant presentation of both entities is extremely low (1/10(9)) and the pathophysiological association is questionned. We present the case of a 18-year-old Belgian patient. He had a diagnosis of craniopharyngioma in childhood and he presented with panhypopituitarism after radiotherapy and surgical treatment. At the age of 14, he started pubertal induction with gonadotropin therapy without clinical response. A genetic evaluation confirmed a homogeneous 47, XXY karyotype. Failure of exogenous gonadotropin therapy revealed the hidden association of primary and secondary hypogonadism, demonstrating the importance of the followup and a multidisciplinary approach in these patients.

Gasto energético, composición corporal, trastornos metabólicos e ingesta energética en pacientes con antecedentes de craneofaringioma / Energy expenditure, body composition, metabolic disorders, and energy intake in patients with a history of craniopharyngioma

Introducción: Los craneofaringiomas son malformaciones histológicamente benignas que se sitúan entre el hipotálamo y la hipófisis, zonas con un rol determinante en la modulación de la saciedad. Aun siendo tumores benignos, presentan una considerable morbilidad. La obesidad está presente hasta en un 52% de los pacientes. Objetivo: evaluar factores de riesgo cardiovascular, composición corporal y gasto energético en pacientes con craneofaringioma, y compararlos con un grupo de obesos multifactoriales. Material y métodos: Se incluyeron todos los pacientes con resección quirúrgica de craneofaringioma, menores de 21 años, en seguimiento en nuestro centro entre mayo 2012 hasta abril 2013 que aceptaron participar por medio del consentimiento informado. Se realizó valoración antropométrica, composición corporal con impedanciometría, gasto energético con calorimetría indirecta y valoración de ingesta energética y de macronutrientes. Se determinó resistencia a la insulina (HOMA-IR) y dislipemia. Se comparó a los pacientes con craneofaringioma con obesidad, con un grupo de pacientes con obesidad multifactorial. Resultados: se estudiaron 39 pacientes. El 59% era obeso y presentó significativamente menor% de masa magra (62.4 vs 67.5 p=0.01) y mayor% de masa grasa (37.5 vs 32.5 p=0.01) comparados con los obesos multifactoriales. No se encontró diferencias en el compromiso metabólico entre los obesos con y sin antecedente de craneofaringioma. Se dividieron los pacientes en tertilos según% de gasto energético para categorizar en gasto bajo vs normal. Se encontró asociación positiva entre% de gasto energético y% de masa magra en obesos multifactoriales (68±1%; en los gasto normal vs 62.6± 1% en los gasto bajo: p 0,04). Sin diferencias dentro de la población de obesos con antecedente de craneofaringioma (62±2.7 en los gasto normal/alto vs 61.2±1.8% en los gasto bajo: p 0,8). El gasto energético basal (REE) fue menor en los pacientes con antecedente de craneofaringioma vs obesos multifactoriales, independientemente de la masa magra, lo que sustenta que existirían otros factores que actuarían disminuyendo el gasto energético. No hubo diferencia con respecto a la ingesta en ambos grupos estudiados. Conclusiones: los pacientes con antecedente de craneofaringioma presentan menor gasto energético no relacionado a la masa magra y similar ingesta energética comparado con obesos multifactoriales. No hubo diferencias en el compromiso metabólico entre los obesos con y sin antecedentes de craneofaringioma (AU)

Introduction: Craniopharyngiomas are histologically benign malformations located between hypothalamus and the pituitary gland, areas that play an important role in satiety modulation. Although the tumors are benign, they may cause significant morbidity. Obesity is found in up to 52% of patients. Aim: To assess cardiovascular risk factors, body composition, and energy expenditure in patients with craniopharyngioma, and to compare them to results in a group of children with multifactorial obesity. Material and methods: All patients who underwent surgical resection of craniopharyngioma, younger than 21 years of age, who were being followed-up at our center between May 2012 and April 2013 who gave their informed consent to participate were enrolled in the study. Anthropometric measurements, body composition with impedanciometer, energy expenditure with indirect calorimetry, and energy and macronutrient intake were evaluated. Insulin resistance (HOMA-IR) and dyslipidemia were determined. Patients with craniopharyngioma associated with obesity were compared to patients with multifactorial obesity. Results: Of 39 patients studied, 59% were obese and a significantly lower percentage of lean mass (62.4 vs 67.5 p=0.01) and a higher percentage of fat mass (37.5 vs 32.5 p=0.01) compared to multifactorial obese subjects. No differences were found in metabolic involvement between obese subjects with and those without a history of craniopharyngioma. Patients were divided into tertiles according to percentage of energy expenditure to categorize low versus normal expenditure. A positive correlation was found between percentage of energy expenditure and lean mass percentage in subjects with multifactorial obesity (68±1%; in those with normal energy expenditure versus 62.6±1% in those with low energy expenditure: p 0.04). No difference was found within the group of obese patients with a history of craniopharyngioma (62±2.7 in those with normal/high expenditure versus 61.2±1.8% in those with low expenditure: p 0.8). Baseline energy expenditure (BEE) was lower in craniopharyngioma patients than in those with multifactorial obesity, regardless of lean mass percentage, supporting the hypothesis that other factors may be involved in the decrease of energy expenditure. There was no difference in the food intake between both groups. Conclusions: Patients with a history of craniopharyngioma had a lower energy expenditure unrelated to lean mass and a similar energy intake compared to subjects with multifactorial obesity. No differences were found in metabolic involvement between obese subject with and those without a history of craniopharyngioma (AU)

Craneofaringiomas: riesgos y desafíos del abordaje endonasal endoscópico extendido a la base del cráneo / Craniopharyngiomas: risks and challenges of extended endoscopic endonasal approach to the skull base

Introducción: Los craneofaringiomas, son tumores frecuentes y aunque son histológicamente benignos, plantean importantes problemas terapéuticos por su naturaleza y morbilidad asociada a la cirugía, siendo una lesión desafiante para los neurocirujanos. Material y Método: Se realizó un estudio descriptivo de los resultados alcanzados con el abordaje endonasal endoscópico extendido trans-tubérculo trans-plano en una serie de pacientes con diagnóstico de craneofaringioma en el período de 2009 al 2012 en el Hospital Clínico Quirúrgico “Hermanos Ameijeiras”. Resultados: Se intervinieron 37 pacientes, (23 F/14 M). Se logró la resección total macroscópica en 34 pacientes. La complicación más frecuente fue la diabetes insípida presentada en 16 enfermos. Tuvimos 4 fallecidos: 3 de ellos por complicaciones médicas en el postoperatorio tardío. Conclusiones: El abordaje endonasal endoscópico extendido trans-tubérculo trans-plano permite acometer el tratamiento quirúrgico favoreciendo una resección amplia para este tipo de lesión. Con tecnología aun en desarrollo este abordaje representa una alternativa esperanzadora para los pacientes con craneofaringiomas.

Introduction: The craneopharyngiomas, are frequent tumors and although they are histological benign lesion, they outline therapeutic important problems for their nature and morbidity associated to the surgery, being a defiant lesion for neurosurgeons. Material and Methods: In this article, we present the results using Extended Endonasal Endoscopic Approach trans-tuberculum trans-planum in patient with craniopharyngioma in “Hermanos Ameijeiras” Hospital between 2009 and 2012. Results: 37 patients were operated, (23 F/ 14 M). We achieve gross total resection in 34 patients. The most frequent complication was insipid diabetes presented in 16 patients. We had 4 deaths, 3 of them were for postoperative medical complication. Conclusions: The extended endonasal endoscopic approach trans-tuberculum trans-planum allows performing the surgical treatment with a wide resection in this type lesion. With technology even in development this approaches represents an alternative for patients with craniopharyngioma.

Bromocriptine for Control of Hyperthermia in a Patient with Mixed Autonomic Hyperactivity after Neurosurgery: A Case Report

Mixed autonomic hyperactivity disorder (MAHD) among patients with acquired brain injury can be rare. A delayed diagnosis of MAHD might exacerbate the clinical outcome and increase healthcare expenses with unnecessary testing. However, MAHD is still an underrecognized and evolving disease entity. A 25-yr-old woman was admitted the clinic due to craniopharyngioma. After an extensive tumor resection, she complained of sustained fever, papillary contraction, hiccup, lacrimation, and sighing. An extensive evaluation of the sustained fever was conducted. Finally, the cause for MAHD was suspected, and the patient was successfully treated with bromocriptine for a month.

Atualização terapêutica no tratamento dos craniofaringiomas / Therapeutic update on the treatment of craniopharyngiomas

O craniofaringioma é uma neoplasia de natureza benigna, pouco frequente, responsável por 1 por cento a 3 por cento de todos os tumores intracranianos, sendo a mais frequente neoplasia intracraniana não neuroepitelial na criança. Geralmente o tumor é restrito à região selar e ao III ventrículo, mas, em decorrência da infiltração e frequente aderência ao sistema nervoso central, apresenta comportamento clínico muitas vezes desfavorável, sendo classificado pela Organização Mundial de Saúde (OMS) como grau I, caracterizado como tumor de baixo ou incerto potencial de malignização. As sequelas endocrinológicas ganham destaque devido ao importante impacto na qualidade de vida dos pacientes, na maioria das vezes crianças. O hipopituitarismo e a obesidade hipotalâmica são complicações frequentes, sendo o tratamento desse tumor um grande desafio para endocrinologistas e neurocirurgiões. A combinação da cirurgia, radioterapia e aplicação de drogas e radioisótopos intratumorais tem como objetivo maximizar as chances de cura e tentar minimizar as sequelas pós-operatórias, mas, mesmo assim, a recidiva ainda é frequente. A escolha da modalidade de tratamento mais adequado para os craniofaringiomas é uma decisão difícil e que deve sempre ser individualizada para cada paciente. Com o objetivo de explorar as múltiplas opções terapêuticas para o craniofaringioma, foi realizada revisão na literatura com ênfase nas possibilidades terapêuticas e complicações inerentes ao tratamento dessa patologia.

Craniopharyngioma is an uncommon benign neoplasm, accounting for 1 percent-3 percent of all intracranial tumors, and the most common non-neuroepithelial intracranial neoplasm in childhood. Usually, the tumor is confined to the sellar region and the third ventricle, but due to frequent infiltration and adherence to the central nervous system, it often has an unfavorable clinical behavior. Therefore, it is classified by the World Health Organization (WHO) as a tumor of low or uncertain malignant potential. Endocrine after effects, mainly hypothalamic hypopituitarism, obesity and diabetes insipidus are highlighted due to their important impact on the quality of life of patients, mostly children. Optimal treatment of this tumor is a major challenge for neurosurgeons and endocrinologists. The combination of surgery, radiation, and application of radioisotopes and intratumoral drugs, aims at maximizing the chances of cure with minimal complications. Yet, recurrence is still frequent. Choosing the best treatment modality for craniopharyngiomas is a difficult decision, and it should always be specific for each case. In order to explore the multiple therapeutic options for craniopharyngiomas, we reviewed the literature with emphasis on the therapeutic possibilities and complications inherent to the treatment of this disease.

Clinical picture of craniopharyngioma in childhood.

This cross sectional and observational study was carried out among the admitted patients of the department of Neurosurgery, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka during the period of 1st March 2004 to 31st March 2005. Among the all intracranial tumours, 2.5-04% are Craniopharyngiomas. Although there is a bi-modal age distribution-1st peak at 5-10 years and the 2nd peak at 55-65 years, the common patients are children (9% of childhood tumour). A typical child with Craniopharyngioma (CP) is short, obese and half blind and has a poor school record. The study has been undertaken to know in details, how child patients with Craniopharyngiomas in Bangladesh present their disease at the hospital. Earlier diagnosis and management may improve the quality of life and longivity. The average age of the patients was 13 years ranging from 07 to 17 years. The vast majority patients were admitted with visual problems as their presenting complaints. Among the patients 33% had total blindness of which 03 had primary optic atrophy and 1 has secondary optic atrophy. Among the remaining 08 patients, 75% were found to have field defect. All patients showed fundal changes ranging from early papilloedema to optic atrophy. We found major endocrinological deficiency in child patients with Craniopharyngioma in 17% cases. Raised Prolactin level may not be significant, because it could be due to stalk effect. Although 25% patients were of short stature, their hormonal profile was within normal range according to age and sex.

Perimetria computadorizada e manual em pacientes com defeitos perimétricos temporais avançados causados por tumores supra-selares / Computerized and manual perimetry in patientes with severe temporal visual field defects due to supraselar tumors

OBJETIVO: Estudar, ao perímetro de Goldmann, um grupo de pacientes com hemianopsia completa ao perímetro Humphrey (24-2 full threshold test), e verificar em quantos casos a perimetria computadorizada deixou de identificar a presença de campo visual periférico residual. MÉTODOS: Dezenove pacientes com defeitos campimétricos por compressão quiasmática foram estudados prospectivamente por meio das perimetrias manual e computadorizada. Vinte e cinco olhos com hemianopsia temporal completa pelo programa 24-2 do Humphrey Field Analyzer foram selecionados e estudados pela perimetria manual de Goldmann para avaliar a presença de campo visual periférico residual. De acordo com os resultados ao perímetro de Goldmann, os olhos foram divididos em 2 grupos: grupo 1, os portadores de hemianopsia temporal completa ao Goldmann e grupo 2, os portadores de campo visual temporal periférico residual. Foi calculada a média do "mean deviation" fornecido pelo aparelho nos dois grupos e o resultado foi comparado pelo teste t de Student. RESULTADOS: A perimetria computadorizada deixou de identificar a presença de campo visual periférico residual em 17 dos 25 olhos (68 por cento). Os valores médios do "mean deviation" no grupo 1 e grupo 2 foram respectivamente -15,43 e -15,93. O estudo estatístico não mostrou diferença significativa entre os dois valores. CONCLUSÕES: A perimetria computadorizada Humphrey com o programa 24-2 threshold test deixa de identificar remanescentes temporais de campo visual em grande porcentagem de pacientes com compressão quiasmática grave. A análise do "mean deviation" fornecido pelo aparelho não permite identificar estes casos. Pacientes estudados ao perímetro automático e apresentando hemianopsia temporal completa, devem complementar sua avaliação perimétrica com a pesquisa por áreas remanescentes no campo visual temporal.

Extensive ossification in a craniopharyngioma.

A rare extensive ossification occurred in a suprasellar craniopharyngioma of a man who died at 21 years of age. The tumor produced headache, retarded physical and mental development, visual disturbances, and increased intracranial pressure. The neoplasm recurred after surgical and roentgenological treatments. Differentiation of multipotential mesenchymal cells or mesenchymal type cells within the tumor has been suggested as the mode of occurrence of bone in this craniopharyngioma.

Pubertad retrasada constitucional o hipogonadismo hipogonadotrófico? / Constitutional puberty delay or hypogonadotrophic hypogonadism?

This review is focused on the diagnosis, clinical and general therapeutic approach of constitutional growth and puberty delay and hypogonadotrophic hypogonadism in males, 2 entities that are difficult to distinguish. Clinical history and physical examination must be carefully performed. Delayed puberty is due to constitutional growth and puberty delay in the vast majority children. These must be distinguish from a small fraction of boys with hypogonadism, a pathological condition. A number of laboratory test allow the prediction of puberty onset and progression. Nevertheless, the advent of highly sensitive immnuessay and radiometric immunoassay systems for LH, FSH and testosterone has not entirely solved the problem, since their values may overlap between normal and pathological conditions

Critical analysis of radical or total removal of craniopharyngiomas in children

Total removal of craniopharyngioma in children is one school of surgical treatment of this lesion. This procedure is unsafe and highly risky and should not be regarded as the primary goal of surgery in such cases. 13 children with craniopharyngoinas were treated from January 1975 to January 1995. Total removal was feasible in 5 cases, subtotal or partial excision in 7 cases and only a biopsy was taken from the remaining case. Recurrent tumors were treated by aspiration or subtotal excision. Irradiation was done to 7 cases of partial or subtotal excision, one of them was a recurrence. 5 cases died postoperatively [3 from intraoperative complications, one from meningitis and the last case most probably from endocrinological deficit]. The study aimed in all cases to do total or radical removal. Certain clinical data are presented to challenge and dissuade against the school of total removal of craniopharyngioma

Craniopharyngioma: treatment by conservative surgery and radiation therapy.

Benign neoplasms are curable only when excised. This applies even to craniopharyngiomas. The proximity of craniopharyngiomas to the hypothalamus and neurovascular structures makes total excision difficult to achieve. Over the last 3-4 decades, it has become increasingly obvious that craniopharyngiomas respond to radiation therapy. Early, unhappy results with major excisions have prompted us to adopt a policy of conservative surgery and radiation therapy to the residual tumour. Preliminary results suggest a good outcome in 35 of the 63 patients so treated from 1981. Details of the study are presented.

Hypernatremic syndrome due to hypodipsia and diabetes insipidus

We present two patients with tumoral lesions of the hypothalamic area, which developed hypernatremia, polyuria and polydipsia due to hypodipsia and ADH deficiency related to the simultaneous compromising of the thirst regulating center and of ADH production.

Síndrome de emaciaçäo diencefálica associada à presença de craniofaringioma / Diencephalic emaciation syndrome associated with the presence of a craniopharingioma

Apresenta-se um caso de síndrome de emaciaçäo diencefálica associada à presença de craniofaringioma. O paciente, de sete anos de idade, apresentava emagrecimento profundo, baixa estatura, palidez cutânea e papiledema bilateral. Pela revisäo efetuada da literatura, esta síndrome, também conhecida como de Russel, ainda näo havia sido relatada em criança em associaçäo com este tipo de tumor