Empty sella in children and adolescents with possible hypothalamic-pituitary disorders.

Several computed tomographic scan studies have described empty sellae in children with hypothalamic-pituitary disorders. Magnetic resonance imaging, however, is a more precise technique for visualizing the intrasellar content, such as the stalk and pituitary lobes. Using magnetic resonance imaging, we studied 339 children and adolescents (mean age +/- SD, 12.7 +/- 4.5 yr) with possible hypothalamic-pituitary disorders to ascertain the frequency of primary empty sella and examine its relationships with other intrasellar abnormalities, pituitary function, and adverse perinatal events. One hundred and ninety-three patients had isolated GH deficiency, 43 had multiple pituitary hormone deficiency, 10 had diabetes insipidus, 17 had hypogonadotropic hypogonadism, 5 had idiopathic delayed puberty, 47 had precocious puberty, and 24 had other hypothalamic pituitary disorders of hyperfunction. One tenth (10.9%) of the patients (37 cases) had empty sella, with a marked variation of incidences among the disorders listed above. A statistically higher frequency of subjects with empty sellae was found only in patients with multiple pituitary hormone deficiency. Patients with and without empty sellae were not different in regard to age or sex. The incidence of empty sella in the various groups of patients was as follows: isolated GH deficiency, 8.8% (17 cases); multiple pituitary hormone deficiency, 34.9% (15 cases); hypogonadotropic hypogonadism, 5.9% (1 case); idiopathic delayed puberty, 40% (2 cases); and precocious puberty, 4.2% (2 cases). No patients with isolated diabetes insipidus or other hypothalamic-pituitary disorders had empty sellae. In the patients with empty sellae, abnormalities of the stalk or posterior lobe were found in 1 patient with isolated GH deficiency (5.9%), 13 patients with multiple pituitary hormone deficiency (86.7%), and no patients with puberty disorders. Likewise, adverse perinatal events were found only in 1 patient with isolated GH deficiency and 9 patients with multiple pituitary hormone deficiency. These findings suggest that empty sella is not rare in children and adolescents evaluated for hypothalamic-pituitary disorders, particularly if there is multiple pituitary hormone deficiency. Empty sella can be found regardless of abnormalities of the stalk and posterior lobe, and adverse perinatal events do not seem to be the primary etiological factor. Empty sella is usually associated with pituitary hypofunction, but it can be found in patients with hyperfunction of the hypothalamic-pituitary-gonadal axis.

Wernicke-korsakoff encephalopathy and polyneuropathy after gastroplasty for morbid obesity: report of a case.

BACKGROUND: Gastric partitioning is a surgical procedure for the treatment of morbid obesity that may engender neurological complications, such as Wernicke encephalopathy and polyneuropathy. SETTING: A specialist hospital. PATIENT: A 36-year-old woman developed Wernicke-Korsakoff encephalopathy and polyneuropathy 3 months after gastroplasty for morbid obesity. A magnetic resonance scan documented the diagnosis, and a clear improvement occurred after parenteral thiamine treatment. In our patient and in previously described cases of the literature, postsurgical vomiting is a constant finding that seems to be the precipitating factor of neurological complications of gastric partitioning. CONCLUSION: Persistent vomiting after gastroplasty for morbid obesity should be considered an alarming symptom to treat immediately with appropriate measures.

Epilepsy with bilateral occipital calcifications: a benign onset with progressive severity.

We studied four patients with a focal epilepsy and bilateral occipital corticosubcortical calcifications without any sign of phakomatosis. The clinical course of the disease was similar in all the patients and evolved from a benign onset to a severe encephalopathy with progressive mental impairment. The question of whether these patients have an incomplete and atypical form of Sturge-Weber syndrome or a previously undescribed disorder is addressed.

CT in progressive supranuclear palsy.

To determine the usefulness of CT in progressive supranuclear palsy (PSP), the CT scans of 87 patients with extrapyramidal disorders and/or dementia were reviewed. Of these, eight patients whose CT scans showed the findings characteristic of PSP were selected for study. These findings consisted of atrophy of the midbrain and quadrigeminal plate, with prominent interpeduncular, crural, ambient, and quadrigeminal plate cisterns, and dilatation of the aqueduct and posterior third ventricle. All eight patients were found to have PSP while none of the other patients had a clinical diagnosis of PSP. The importance of CT in the diagnosis of PSP, especially in the early phases of the disease, is emphasized.

Late onset familial Hallervorden-Spatz disease: MR findings in two sisters.

Two sisters affected by late onset Hallervorden-Spatz disease are described. In both patients, MR showed rings of decreased signal intensity surrounding hyperintense areas that gave a target-like appearance to the globi pallidi, a finding that corresponds with the known pathologic lesions in the disease. MR reflects the metabolic and anatomic evaluation of this disease.

Gliomatosis cerebri: clinical, neurochemical and neuroradiological response to temozolomide administration.

Gliomatosis cerebri is a rare form of diffusely infiltrating glioma that is typically resistant to conventional chemotherapy and radiation therapy and carries a poor prognosis. Temozolomide has shown antineoplastic activity against malignant gliomas and more recently was beneficial in one patient with gliomatosis cerebri. To make an objective assessment of the effect of long-term temozolomide administration in a patient with gliomatosis cerebri we used brain proton magnetic resonance spectroscopy and structural MRI. A 46-year-old man with gliomatosis cerebri was treated with temozolomide (200 mg/m(2) per day for 5 days every 28 days). Twenty cycles of temozolomide resulted in a marked reduction in choline and scyllo-inositol content, as detected using brain proton MR spectroscopy, indicating reduced tumor cellularity and/or growth rate. Neurochemical improvements were associated with normalization of the signal intensity in most of the previously affected cerebral regions and regression of mass effect on MRI. A left pyramidal syndrome, present at the start of the treatment, disappeared. Our observation lends support to larger clinical trials evaluating the use of temozolomide to treat this brain tumor.

Interictal EEG findings in two cases with 'double cortex' syndrome.

'Double cortex' is a neuroblast migrational disorder characterized by a diffuse band of heterotopic grey matter between the lateral ventricles and cerebral cortex which may be normal or macrogyric. The authors report two girls with 'double cortex' syndrome presenting intractable partial epilepsy and severe mental retardation. EEG data are analysed in detail because such patients presented a particular interictal EEG background activity, not only with very stable features during the different stages of vigilance, but also uninfluenced by seizure frequency or duration. The authors raise the possibility that a further in vivo diagnostic parameter for this syndrome has been identified.

Celiac disease, posterior cerebral calcifications and epilepsy.

Ten patients (5 males) affected by epilepsy with cerebral calcifications of unknown etiology mainly located in the posterior regions were subjected to a battery of tests including an intestinal biopsy. Our aim was to establish whether or not the patients also suffered from celiac disease. Celiac diseases was found in 6 patients. This result and the individual cases reported in the literature suggest that this triad of diseases (celiac disease, posterior cerebral calcifications and epilepsy) are casually related. The same HLA phenotype was found in all 10 patients, i.e., including the cases without celiac disease, suggesting an underlying disorder of the immune system. Our results emphasize that particular attention should be paid to a search for celiac disease in all patients with epilepsy and posterior cerebral calcifications.

Microsurgical repair of small nerves. Experimental study of regenerative processes.

The Authors describe an experimental study of regenerative processes of small nerves after microsurgical repair. The results obtained indicate that: the carefully cleaning up the operative fields is necessary; putting strain on the two stumps as well as over-tight stitches must be avoided; the perfectly positioning stumps, without their misalignment, is mandatory.

Multiple recurrences of meningiomas.

The authors report a case of a patient with a right sphenoid wing and a right parasagittal fronto parietal meningioma diagnosed 25 years after a right sphenoid wing meningioma had been removed. There was no evidence of Von Recklinghausen disease. The two tumors were benign. The problems concerning multiple meningiomas and recurrences of meningioma are briefly discussed.

Normal pituitary size in two patients with growth hormone gene deletion.

Somatotrope cells account for almost 50% of the volume of the pituitary gland, which is usually hypoplastic in subjects with growth hormone (GH) deficiency. Magnetic resonance imaging (MRI) was used to describe the sellar area of two siblings affected by GH gene deletion and hence absent GH secretion. Pituitary size and shape were normal in both subjects and there were no other abnormal findings in the sellar area. In particular, pituitary height (5.6 and 5.1 mm) and volume (268 and 229 mm3) in the two patients were within the normal range for age and higher than the usually reported values in GH deficient subjects. Our results suggest that the amount of GH secreted from the pituitary may have little influence on the dimensions of the gland.

Unusual magnetic resonance imaging findings of the sellar region in subjects with hypopituitarism: report of 4 cases.

Out of 323 consecutive growth hormone deficient patients who underwent magnetic resonance imaging (MRI), we describe the clinical and neuroradiological characteristics of four patients in whom MRI revealed unusual pictures of the sellar area. They were selected as unique in their morphological picture and representative of rare conditions. At presentation all subjects had short stature, growth hormone (GH) deficiency and complex phenotypical abnormalities. Patient 1. Female affected by vaginal atresia and sinus urogenitalis, polydactyly and syndactyly with Y-shaped metacarpals. MRI at age 11.2 years revealed normal pituitary, but hypothalamic mass occupying the suprasellar and interpeduncular cistern. The diagnosis of Hall-Pallister syndrome was made. Patients 2 and 3. Two sisters with a history of epilepsy both showing mild intellectual deficiency, midface hypoplasia and ectodermal dysplasia. MRI at age 8 and 12 years respectively displayed in both cases a round hypointensity protruding from the dorsum sellae into a normal pituitary. The diagnosis was sellar spine. Patient 4. Male with a history of postnatal hypoglycemia showing microphallus and clinical features of severe hypopituitarism. Hormonal evaluation at age 8 months confirmed multiple pituitary hormone deficiencies and MRI at age 6 years showed absent anterior lobe, rudimentary stalk and posterior lobe ectopia. The diagnosis was pituitary aplasia. The patients described show that MRI in pituitary dwarfs can reveal unusual intrasellar findings and allow the correct diagnosis of rare syndromes. Our patients also demonstrate the wide variability in the association of hypopituitarism with midline congenital abnormalities and the possible combination with complex syndromes.

[Magnetic resonance imaging and hypothalamo-hypophyseal disorders in children: morpho-functional and etiologic aspects]. / Risonanza magnetica e patologia ipotalamo-ipofisaria nel bambino: aspetti morfo-funzionali ed eziologici.

In recent years magnetic resonance (MR) has improved the diagnostic accuracy of the study of the sellar area. In patients with growth hormone deficiency, particularly when associated with other hormonal defects, MR has identified the picture characterized by posterior lobe ectopia, non-visible stalk, hypoplasia of the anterior lobe and presence of intrasellar CSF (empty sella). The latter is not exclusive of growth hormone deficient patients, but can be found also in children with disorders of puberty. Although a certain relationship between pituitary height and growth hormone secretion has been described, it is usually difficult to find a clear association between pituitary dimensions and function of the gland. The theory supporting the congenital origin of the above mentioned abnormalities, which may be part of midline abnormalities, is currently sustained by most Authors. In diabetes insipidus the posterior lobe may or may not be visible and a thickened stalk has been found in patients with disease duration of less than 2 years. In disorders of puberty morphological abnormalities of the sellar area are rare. In girls with precocious puberty the pathological findings described are hamartoma of the tuber cinereum, empty sella and pituitary height increased for age. There seems to be a certain relationship between gonadotropin secretion and pituitary dimensions.

Upward oriented sellar spine. MRI findings. A case report.

The sellar spine is a rare congenital malformation due to the persistence of a notochord rest within the fetal sella turcica. We describe a unique case of a sellar spine vertically oriented displacing the pituitary stalk upwards and forwards. The MRI findings are briefly discussed.