Acromegalia y silla turca vacía: una asociación infrecuente: presentación de un caso / Acromegaly and empty sella syndrome: an infrequent association: presentation of a case

La acromegalia, originada por un exceso de producción de Hormona de crecimiento (Gh), se caracteriza por crecimiento somático exagerado, alto riesgo cardio-metabólico, así como reducción de la expectativa de vida. Tiene una incidencia de 3-4 casos por millón de habitantes. El diagnóstico se retrasa hasta 10 años aumentando la morbi-mortalidad. Las alternativas terapéuticas incluyen medicamentos y cirugía, que van encaminados a reducir los efectos de masa tumoral, normalizar los parámetros bioquímicos y resolver las manifestaciones clínicas. En casos muy infrecuentes, el tumor hipofisario que la origina se asocia a silla turca vacía.

Acromegaly, caused by an excess production of growth hormone (Gh), it is characterized by exaggerated somatic growth, high cardio-metabolic risk, as well as reduction of life expectancy. It has an incidence of 3-4 cases per million population. The diagnosis is delayed up to 10 years increasing morbidity and mortality. The therapeutic alternatives include medications and surgery, which are aimed at reduce the effects of tumor mass, normalize biochemical parameters and resolve clinical manifestations. In very infrequent cases, the pituitary tumor that originates it is associated with empty sella syndrome. Key words: Acromegaly, Empty sella syndrome, Pituitary tumor.

Two cases of Kallmann syndrome associated with empty sella.

Kallmann syndrome (KS) is a developmental disease characterized by the association of isolated hypogonadotropic hypogonadism and anosmia/hyposmia. We report an unusual presentation of two females with KS and empty sella. These females, aged at 20 and 29-year-old, presented primary amenorrhea with prepubertal estradiol and low gonadotropin levels. No other significant clinical signs were observed. Empty sella was observed on MRI in both cases. Sequencing of FGFR1 gene, recently implicated in autosomal form of KS, was performed and one splicing mutation (IVS14 + 1G > A) was identified in one patient.

Empty sella syndrome, panhypopituitarism, and diabetes insipidus.

We present an 18-month-old girl with short stature, obesity, panhypopituitarism, diabetes insipidus, and visual defects. Postmortem examination revealed brain atrophy due to a diffuse encephalopathy, numerous calcified neurons in cerebral cortex, deep telencephalic and diencephalic nuclei, diffuse neuronal necrosis in hypothalamic nuclei, moderate atrophy of optic nerves, very thin hypophyseal stalk, and empty sella with the hypophysis compressed to the dorsal aspect of the concavity. Our hypothesis is that the presence of an empty sella in a child with hypophyseal-hypothalamic abnormalities should alert physicians to the existence of hypothalamic lesions secondary to a perinatal insult. We discuss the possible pathogenesis of these findings as well as lines of evidence available in the literature.

Primary empty sella syndrome: the role of visual system herniation.

BACKGROUND: It has been traditionally accepted that ophthalmologic alterations in cases of primary empty sella syndrome are caused by the herniation of the visual system in the pituitary fossa, but this cannot be stated categorically. METHODS: Two female patients with primary empty sella syndrome and visual field defects were included in this series. The peculiarity of these cases was that in neither of them was there an evident herniation of the visual system. In the absence of other causes that could explain the visual defects, the patients were operated on through a transsphenoidal approach. RESULTS: Both patients showed immediate improvement of their visual deficits without recurrence. Postoperative imaging studies have shown continuance of an adequate elevation of the sellar contents during the 5-year follow-up period. CONCLUSIONS: Visual field defects in cases of primary empty sella syndrome may occur even without radiological evidence of herniation of the visual system. The fact that the two patients described in this paper improved after surgery supports other reports that in this syndrome traction on the infundibular stalk may cause some microscopic anatomic alteration in the visual system or in its vascular supply that is not evident on imaging studies.

Freqüência de depressäo em indivíduos com diagnóstico de sela vazia / Depression frequency in subjects with empty sella diagnostic

Com a finalidade de investigar a possível associação entre a presença de sela vazia e depressão foram avaliados 11 pacientes com esse diagnóstico anátomo-radiológico e 10 indivíduos com imagem tomográfica selar normal. O diagnósitco de depressão baseou-se no DSM-IV e a sua quantificação na escala de Hamilton. Foi diagnosticada depressão em cinco portadores de sela vazia (45 por cento) e dois indivíduos normais (20 por cento). Ambos os grupos apresentaram alto índice de história familiar de alcoolismo e outros fatores associados à depressão, externo ou internos. Entre os portadores de sela vazia e depressão, um paciente não apresentava doença endócrina, um apresentava diagnóstico de hipogonadismo e recebia reposição hormonal, um apresentava hiperprolactinemia e, outros dois, hipopituitarismo com reposição adequada, exceto quanto ao hormônio de crescimento, afastando as deficiências endócrinas como etiologia única do quadro psiquiátrico. A relação direta ou indireta das alterações selares com a presença de depressão não pode ser definitivamente estabelecida com base nesses achados, mas sugere-se esta possibilidade, relacionada a distúrbios em vias de neurotransmissores.

The empty sella: results of treatment in 76 successive cases and high frequency of endocrine and neurological disturbances.

OBJECTIVE: We assessed the frequency of endocrine or neurological disturbances and the results of surgery in patients with empty sella, diagnosed with cisternography and/or computerized tomography scanning. DESIGN AND PATIENTS: Analysis of hospital records of 76 successive patients (73 primary, three secondary empty sella) from a single institution. MEASUREMENTS: Clinical and neuro-ophthalmological evaluation. Serum PRL, GH, TSH, LH, FSH, T4, T3 by radioimmunoassay. Diagnosis of empty sella with cisternography and/or computerized tomography scanning (n = 69), or discovered at surgery (n = 7). RESULTS: Patients with empty sella had: headache (69.7%), visual disturbances (34.2%), cerebrospinal fluid rhinorrhoea (11.8%), endocrine disturbances (51.4%, including hyperprolactinaemia, acromegaly, Cushing's syndrome). A pituitary tumour was discovered in two patients, in seven other ones it was suspected but not found at surgery. Transsphenoidal packing of empty sellas was done in 56 cases, with 7.1% post-operative complications. With surgery there was improvement of headache in 71%, of visual disturbances in 46%. Cerebrospinal fluid rhinorrhoea (discovered at surgery in four other patients) was not resolved by the first operation in six out of 13 patients. In 20 patients without surgery, headache improved in 64.6%. CONCLUSIONS: The empty sella is frequently associated with a variety of neurological and endocrine disturbances, which is contrary to conventional belief. Cerebrospinal fluid rhinorrhoea is not a rare complication and it may be difficult to treat. Some cases of empty sella may be due to partial pituitary apoplexy. Autoimmunity may have existed in other cases. Surgery may be useful in many patients, but a judicious selection is needed because it entails complications and non-operated patients may improve spontaneously.

Empty sella syndrome associated with partial hypopituitarism (visualized on MRI scan).

The empty sella syndrome has become a rather frequent finding in magnetic resonance imaging (MRI) scanning. The usual presentation of empty sella syndrome involves an incidental finding on a computed tomography scan or an MRI scan. It is unusual to find empty sella syndrome associated with hypopituitarism. The authors describe such an unusual finding in a 54-year-old nulliparous woman.

Complicaciones y secuelas de la hipertensión endocraneana benigna (seudotumor cerebral) / Benign endocraneal hypertension: complications and sequelas (cerebral pseudotumor)

A pesar de que la hipertensión endocraneana benigna (HEB) fue descrita desde 1893, aún en los momentos actuales permanecen sin aclarar las principales incógnitas sobre su etiología y fisiopatología. Una muestra de ello son las numerosas denominaciones de la enfermedad señaladas por los distintos autores, de acuerdo con su interpretación de la fisiopatología y de la causa del síndrome. Una denominación más utilizada es la de hipertensión endocraneana benigna al presuponerse la ausencia de complicaciones y secuelas en esta entidad. A pesar de que es el término que más nos complace, en este trabajo revisamos las principales complicaciones y secuelas de la HEB, lo que motiva dudas sobre la conveniencia de este término. La complicación más temible de la HEB es la visual, cuya frecuencia de presentación es variable y depende de distintas condiciones.