Carla Carollo

Spontaneous Partial Regression of Low-Grade Glioma in Children With Neurofibromatosis-1: A Real Possibility

At the age of 41 and 31 months, respectively, a boy and a girl affected by neurofibromatosis-1 were diagnosed with a visual pathway glioma during surveillance contrast-enhanced head magnetic resonance imaging (MRI). In the first child, the initial MRI showed that the entire optic chiasm, the intracranial tract of the left optic nerve, and hypothalamus were grossly enlarged and enhanced in the post-gadolinium T1-weighted images. Ten months later, the hypothalamic component of the lesion had regressed markedly and there were no more areas of contrast enhancement. In the second child, the initial MRI showed that the optic chiasm, the right optic tract, and geniculate body were enlarged and enhanced after gadolinium injection. At 6-month follow-up, the MRI showed that the right optic tract and the anterior aspect of the optic chiasm decreased in size and the contrast enhancement of the entire lesion was reduced dramatically. These findings, as indicated by other similar reports, confirm that spontaneous regression of visual pathway glioma is a rare but real possibility in children with neurofibromatosis-1. Therefore, clinicians need to be aware of visual pathway gliomas erratic behavior in children with neurofibromatosis-1 with special attention given to the importance of a very conservative attitude toward any type of treatment for such patients. (J Child Neurol 1999;14:352-356).

Congestive heart failure secondary to cerebral arterio-venous fistula

Arteriovenous fistula is a relatively rare cause of severe congestive heart failure in the newborn. An intracranial arteriovenous malformation associated with an aneurysm of the great vein of Galen is the most frequent of such malformations and, although well known, it remains a difficult diagnosis in the neonate because the clinical picture first presents with findings suggesting cardiac disease. The newborn with a vein of Galen aneurysm has volume and pressure overload on his myocardium; cyanosis is often present due to persistent fetal circulation; peripheral pulses are generally decreased in amplitude except in those arteries near the fistula where they are bounding, as an expression of a hyperdynamic status. A continuous murmur may be heard over the scalp, but this highly suggestive sign is often not present. The majority of newborns with intracranial arteriovenous fistula die very soon. Unfortunately, most of these infants are at first considered to have congenital heart disease and are, therefore, subjected to cardiac catheterization and angiography, with their well-known risks, before a correct diagnosis is made. Cross-sectional echocardiography, by demonstrating normal intracardiac anatomy, eliminates the need for an invasive investigation in a very sick neonate. Ultrasonography of the head will then provide a rapid and accurate demonstration of the aneurysm of vein of Galen. Cerebral angiography will complete the diagnosis in those cases in which a neurosurgical intervention is contemplated.

Increased Rate of Intracranial Saccular Aneurysms in Acromegaly: An MR Angiography Study and Review of the Literature

BACKGROUND The concurrence of intracranial aneurysms and acromegaly has been reported and debated previously. Our study in a large number of patients aimed to verify whether acromegaly patients carry a higher risk of harboring intracranial saccular aneurysms and to evaluate the possible relationship using clinical, laboratory, and imaging techniques. MATERIALS AND METHODS A total of 152 of 161 consecutive acromegaly patients (median age, 55.7 yr; 82 females) underwent neuroimaging evaluation of the circle of Willis. Clinical data (disease duration and disease control, hypertension, smoking history, diabetes and dyslipidemia, previous surgery or radiotherapy, previous or current pharmacological therapy), laboratory findings (GH and IGF-I at onset and shortly before examination), and pituitary adenoma imaging features (size and invasiveness of the cavernous sinus) were recorded. RESULTS Twenty-six patients (17.3%) harbored 40 newly diagnosed intracranial aneurysms; two other patients had previously undergone aneurysm clipping due to subarachnoid hemorrhage. Ten patients had multiple aneurysms; most of the aneurysms were located in the intracranial tract of the internal carotid artery (67.5%); no aneurysms belonged to the vertebrobasilar circulation. The presence of intracranial aneurysms correlated with GH serum values at disease onset (P < 0.05) and showed a trend to a positive correlation with poor disease control (P = 0.06); no other laboratory, clinical, and radiological findings correlated with the presence of intracranial aneurysms. CONCLUSIONS GH serum excess seems to carry an increased risk of developing intracranial aneurysms. A neuroradiological evaluation of the intracranial circulation might therefore be considered in the diagnostic work-up of patients affected with acromegaly.

Vertebral and spinal cavernous angiomas associated with familial cerebral cavernous malformation.

BACKGROUND Cerebral cavernous malformations are vascular malformations that affect the CNS and have been associated with cutaneous, retinal, and hepatic lesions. Until now, vertebral hemangiomas associated with CCM have been described only in one case. The coexistence of intracranial and spinal cavernous angiomas in familial CCM is extremely rare. In addition to previous studies, the occurrence of spinal, vertebral, and cutaneous cavernous angiomas is now described in different members of a large family with CCM. CASE DESCRIPTION Our study reports a previously described family (IFCAS-07) with 12 members affected by autosomal dominant cavernous angiomas: 11 had CCM either alone or associated with hepatic or retinal angiomas, and one had only hepatic angioma. In all 11 members affected by CCM, the mutation of CCM1 gene was detected. During the follow-up, 8 subjects underwent a spinal MRI: 2 because they were symptomatic (thoracic paresthesias, enuresis, back pain) and 6 as a screening examination. Spinal MRI showed in 5 subjects spinal cavernous angiomas either alone or associated with vertebral hemangiomas. CONCLUSIONS To our knowledge, this is the largest family reported with different subjects affected by CCM associated with multiple cavernous angiomas throughout (brain and spinal cord) and besides (retina, skin, liver, and vertebral column) the CNS. Comprehensive care of patients with familial CCM includes screening of all the tissues that can be affected and appropriate management by specialists. We emphasize the importance of spinal MRI in the diagnosis of spinal and vertebral cavernous angiomas in all patients affected by familial CCM.

Childhood stroke associated with familial protein S deficiency.

Cerebral infarction is a rare pathology among children and its etiology can be identified in almost two-thirds of cases. The remaining one-third are considered idiopathic. Recently, inherited disorders of blood coagulation predisposing to thrombosis have been taken into account as a possible cause of childhood stroke. We describe here a case of a 6-year-old child presenting with ischemic stroke and protein S (PS) defect. The family study suggested inheritance of the defect. The immunological characterization of PS in the affected family members was consistent with a defect mainly in the free form of PS. In the case here reported no associated predisposing condition to stroke could be identified but familial PS defect was found. No therapy was administered. Nevertheless symptoms disappeared spontaneously and there were no recurrences at the 1 year follow-up. Diagnostic imaging techniques demonstrated that a reduction in the cerebral ischemic area had occurred 2 months after the stroke.

Bilateral cerebral occipital calcifications and migraine‐like headache

Computed tomography scanning in two young patients with recurrent, pulsating, migraine-like headache showed parieto-occipital calcifications. One patient presented with an atypical form of the Sturge-Weber syndrome, and the other with celiac disease and folic acid deficiency. The clinical features were analyzed and compared with those in other cases reported in the recent literature which have shown bioccipital calcifications but no cutaneous angiomas, sometimes associated with visual and/or intelligence deficit and epilepsy. Finally, the possible connection between cerebral calcifications and headache is discussed.

Reduced right posterior hippocampal volume in women with recurrent familial pure depressive disorder

Volumetric changes in mood-relevant distributed limbic/paralimbic structures have been reported in the recent literature on the course of mood disorders. Patients with unipolar and bipolar disorders have been found to have smaller hippocampal and anterior cingulate volumes. We examined hippocampal, amygdalar and anterior cingulate cortex (ACC) volumes in female patients with recurrent familial pure depressive disorder (rFPDD). We used semi-automated software for magnetic resonance imaging (MRI) to measure the volumes of the hippocampus, amygdala, ACC and subgenual prefrontal cortex (SGPFC) in 15 female patients with familial recurrent major depression (MD) and 15 healthy female subjects. Analysis of covariance, with whole brain volume as covariate, was used to compare volumetric measurements in the two groups. Volumes of the right hippocampal body and tail were significantly smaller in female patients with familial depressive disorder than in healthy subjects. Our data provide evidence of structural lateralized hippocampal body and tail abnormalities in women with familial history and recurrent episodes of depression. Although global reduction of hippocampal volume has been widely reported, data on lateralized regional reductions in familial recurrent depression had not been previously reported. Reduced volume of the right posterior hippocampus could be a structural endophenotype for recurrent depressive disorders in women.

Intravenous thrombolysis in the emergency department for the treatment of acute ischaemic stroke

Background and aims: Thrombolytic therapy with intravenous recombinant tissue plasminogen activator (rt-PA) improves outcome in patients with ischaemic stroke treated within 3 h of symptom onset, but its extended implementation is limited. A pilot study was designed to verify whether evaluation of patients with acute ischaemic stroke and their treatment with intravenous rt-PA in the emergency department (ED), followed by transportation to a semi-intensive stroke care unit, offers a safe and effective organisational solution to provide intravenous thrombolysis to acute stroke patients when a stroke unit (SU) is not available. Methods: After checking for inclusion and exclusion criteria, ED doctors contacted the stroke team with a single page, located family members and urgently obtained computed tomography scan and laboratory tests. A stroke team investigator clinically assessed the patient, obtained written informed consent and supervised intravenous rt-PA in the ED. After treatment, the patient was transferred to the SU for rehabilitation and treatment of complications, under supervision of the same stroke team investigator. Results: 52 patients were treated with intravenous rt-PA within 3 h of symptom onset. 20 patients (38%) improved neurologically after 24 h, the number increased to 30 (58%) after one week. At 3 months 22 patients had a favourable outcome (43%). The 3-month mortality rate was 12%. Symptomatic cerebral haemorrhage was observed in two patients (4%). Conclusions: Intravenous rt-PA administration in the ED is an effective organisational solution for acute ischaemic stroke when an SU is not established.

Germinoma with synchronous involvement of midline and off-midline structures associated with progressive hemiparesis and hemiatrophy in a young adult

IntroductionCerebral germinomas, the most common and least malignant intracranial germ cell tumors, usually arise in the pineal or suprasellar region and have characteristic clinical and radiological features. Germinomas more rarely occur in the thalamus, basal ganglia, and internal capsule, causing sometimes cerebral hemiatrophy and hemiparesis. More rarely, other clinical features can be fever of unknown origin, visual disturbance, and neuropsychiatric symptoms. Cerebral hemiatrophy can precede the imaging depiction of the off-midline mass.CaseThe authors present the first case of cerebral germinoma with synchronous involvement of the midline and off-midline structures, with unusual clinical and radiological presentation.DiscussionThe literature is reviewed, and the pathogenesis, the clinical findings, the imaging, and the therapy are discussed.

Familial cerebral, hepatic, and retinal cavernous angiomas: a new syndrome

New, non-invasive neuroradiological techniques [computed tomography (CT) and magnetic resonance (MR)] have led to reassessment of the incidence of cavernous angioma of the brain (CCA), which is sometimes multiple and associated with cavernomas in other organs. CCA is known to be familial, with dominant autosomal transmission. This paper concerns a family with multiple CCA, sometimes in association with liver angiomas, in ten members belonging to four different generations. These malformations can vary in clinical expression: no neurological symptoms have been detected in subjects from the first or second generations, but they were found in adult age in subjects from the third generation; two fourth-generation patients came under our observation at 2.5 years of age. Symptoms include partial epileptic fits, which sometimes become generalized later and which are generally controlled adequately by therapy. Patients also present paresthesia and occasional motor deficiencies corresponding to CCA bleeding episodes; these symptoms have always abated with medical treatment alone. None of the patients are mentally retarded or restricted in their daily lives. Neuroradiological investigations (CT, MR, angiography) reveal typical multiple brain lesions in all patients. Given the first-generation patients clinical history of symptomatic hepatomegaly and the postmortem finding of multiple liver and brain cavernomas, liver ultrasonography was performed on all members of the family. Liver angioma was detected in two subjects from the second and third generations. Retinal angioma was detected in one patient with quadrantanopsia. (a) This association of brain, liver and retinal angiomas had not been reported in the past; (b) the significant radiological findings contrast sharply with the relatively benign clinical picture; and (c) expression of the disease varies in consecutive generations, with an increasingly early onset. The authors emphasize the need for neuroradiological studies using CT and MR, liver ultrasonography, ophthalmologic evaluation, and genetic evaluation for CCA patients and their relations.