BackgroundPatients with pituitary stalk interruption syndrome (PSIS) are initially referred for hypoglycemia during the neonatal period or growth retardation during childhood. PSIS is either isolated (nonsyndromic) or associated with extra-pituitary malformations (syndromic).ObjectiveTo compare baseline characteristics and long-term evolution in patients with PSIS according to the initial presentation.Study DesignSixty-seven patients with PSIS were included. Data from subgroups were compared: neonates (n = 10) versus growth retardation patients (n = 47), and syndromic (n = 32) versus nonsyndromic patients (n = 35).ResultsNeonates displayed a more severe hormonal and radiological phenotype than children referred for growth retardation, with a higher incidence of multiple hormonal deficiencies (100% versus 34%; P = 0.0005) and a nonvisible anterior pituitary lobe (33% versus 2%; P = 0.0017). Regular follow-up of growth might have allowed earlier diagnosis in the children with growth retardation, as decreased growth velocity and growth retardation were present respectively 3 and 2 years before referral. We documented a progressive worsening of endocrine impairment throughout childhood in these patients. Presence of extra-pituitary malformations (found in 48%) was not associated with more severe hormonal and radiological characteristics. Growth under GH treatment was similar in the patient groups and did not vary according to the pituitary MRI findings.ConclusionsPSIS diagnosed in the neonatal period has a particularly severe hormonal and radiological phenotype. The progressive worsening of endocrine impairment throughout childhood justifies periodic follow-up to check for additional hormonal deficiencies.

We report long-term evolution of endocrine functions and the results of GH treatment in 35 patients (26 male and 9 female) with pituitary stalk interruption. At diagnosis, mean chronological age was 4.8 ± 2.7 years, mean SDS for height –3.1 ± 0.8 with a bone age retardation of 2.3 ± 1.3 years and a mean SDS for growth velocity of –0.5 ± 1.1; 80% presented complete GH deficiency (GHD) and 20% partial GHD; thyroid deficiency was present in 47.1% of children with complete GHD but absent in all partial GHD. Diagnosis was made during the first months of life in only 2 patients while 23% presented with severe neonatal distress; neonatal signs were only observed in the group with pituitary height below 2 mm (45.7% of patients). GHD was isolated in 40.6% of patients below 10 years while multiple hormone deficiencies was consistent at completion of growth in all patients. Height gain was significantly higher in patients who started GH treatment before 4 years (p = 0.002). GH treatment is very effective: in 13 patients, final height was –0.4 ± 1.0, total height gain 3.2 ± 1.2 and distance to target height –0.3 ± 1.6 SDS.

Meningiomas are rare tumours in children and lumbar lesions are exceptional. We report a clear-cell meningioma (CCM) of the cauda equina in a 10-year-old girl. The tumour was diagnosed by MRI, showing an enhancing intradural mass extending from L1 to L4. Pathology and immunohistochemical study demonstrated a CCM. The patient had a recurrence 6 months after the operation requiring further surgery. CCM are rare lesions, characterised by abundant cytoplasmic glycogen particles. Complete surgical removal is necessary because, despite their benign histological appearance, CCM are potentially aggressive and may recur, spread locally and even metastasize.

The Prader-Willi syndrome (PWS), a rare multisystem genetic disease, leads to severe disabilities, such as morbid obesity, endocrine dysfunctions, psychiatric disorders, and social disturbances. We explored the whole brain of patients with PWS to detect abnormalities that might explain the behavioral and social disturbances, as well as the psychiatric disorders of these patients. Nine patients with PWS (six males, three females; mean age 16.4 years) underwent a positron emission tomography (PET) scan with H 2 15 O as a tracer to measure regional cerebral blood flow (rCBF). The images were compared with those acquired from nine controls (six males, three females; mean age 21.2 years). A morphologic magnetic resonance imaging (MRI) was also performed in PWS patients, and their cognitive and behavioral skills were assessed with Wechsler Intelligence Scale for Children III and the Child Behavior Check List (CBCL). The MRI images showed no evident anatomic abnormalities, whereas PET scans revealed hypoperfused brain regions in PWS patients compared with controls, particularly in the anterior cingulum and superior temporal regions. We observed a significant relationship (P < 0.05) between rCBF in the hypoperfused regions and CBCL scores. The functional consequences of these perfusion abnormalities in specific brain regions might explain the behavioral and social problems observed in these individuals.

Desmoplastic infantile astrocytoma (DIA) and desmoplastic infantile ganglioglioma (DIG) are rare intracranial tumors that mostly occur in the first 2 years of life and involve superficial cerebral cortex. Despite the large size of these lesions and some worrisome histological and radiological features, prognosis is generally favorable after gross total resection. We report an original observation of a desmoplastic infantile astrocytoma in a 5-year-old boy with multiple localizations on initial presentation, including the unusual subtentorial region. Magnetic resonance imaging showed a temporal tumor with prepontine and interpeduncular extension, and two other distinct localizations in cisterna magna and left cerebellar hemisphere. Leptomeningeal enhancements were present around the basal cistern. The surgical samples, corresponding exclusively to subtentorial lesions, were devoid of anaplastic features; the temporal lesion was untouched because of the interpeduncular extension. Adjuvant chemotherapy was applied, with shrinkage of lesions. DIA and DIG are more generally unifocal at initial presentation. When the tumor is large, multilobular involvement is common, but multiple location of DIG is, on the contrary, very rare. Previously, only five cases of DIG/DIA located in two or more separate locations have been published. We report the sixth, and first noninfantile, case of DIA/DIG with multifocal initial presentation.

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We suggest that prenatal MRI has diagnostic value when synostosis is suspected on ultrasonography. Moreover, MRI is accurate in the detection of associated brain abnormalities, which is an important prognostic issue in this diagnosis. Prenatal diagnosis of craniosynostosis is difficult and could benefit from three-dimensional ultrasonography and three-dimensional CT.