A pediatric intramedullary spinal cord tumor with unusual solid‐cystic and papillary features: A case report

Spinal cord tumors are rare in children. We report a novel case of pediatric intramedullary spinal cord tumor with unusual solid‐cystic and papillary features. Clinically, the patient presented at the age of 3 years with motor deficit and urinary incontinence, and MRI demonstrated multilocular cystic lesions in the thoracic spine. Histologically the tumor consisted of solid, sheet‐like components and branching papillary structures, and immunohistochemistry demonstrated positive reactivity for epithelial membrane antigen, cytokeratins (7, AE1/3, CAM5.2), E‐cadherin and transthyretin, and negativity for GFAP, S‐100 protein, synaptophysin and neurofilament. These histological and immunohistochemical findings appeared to be unique, and were not compatible with the features of classical ependymoma or choroid plexus papilloma. The clinical behavior, characterized by relatively rapid tumor regrowth after surgical resection and a relatively high MIB‐1 labeling index, suggest that this tumor might have had moderate malignant potential. This pediatric case appears to be particularly informative with regard to the tumor biology or tumorigenesis of intramedullary spinal cord tumor with unusual solid‐cystic and papillary features.     

A case of multiple sclerosis with an onset mimicking the Kleine-Levin syndrome

A 20 years old patient is described, who presented two episodes of day-time hypersomnia, orthostatic hypotension and psychotic behavior. Compulsive masturbation and abnormalities of the eating habits were also present. Both episodes cleared up spontaneously in about one week. From the clinical point of view a Kleine-Levin syndrome, was suspected. However a CSF examination showed IgG oligoclonal bands and an increased IgG index. A NMR showed multiple area of increased signal intensity, suggestive of a demyelinating disease. On these elements a final diagnosis of MS was made, in spite of a normal neurological examination. This case was compared to other cases of MS in which the disease begins with acute remitting psychiatric symptoms. However cases of MS with complex episodes as observed in our patient were not found in the Literature.

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Sommario Viene descritto il caso di un paziente di 20 anni che presentava 2 episodi caratterizzati da ipersonnia diurna, ipotensione ortostatica e sintomi psicotici. Erano anche presenti masturbazione compulsiva e anomalie dell’alimentazione. Ambedue gli episodi si risolvevano spontaneamente in circa una settimana. Gli aspetti clinici degli episodi erano suggestivi di una sindrome di Kleine-Levin. Tuttavia l’esame del LCS dimostrava la presenza di bande oligoclonali IgG e un aumento dell’IgG index. Una Risonanza Magnetica Nucleare dimostrava aree multiple di segnale aumentato, suggestive di un processo demielinizzante. Sulla base di tali dati veniva posta diagnosi di SM, malgrado l’esame neurologico fosse completamente normale. Tale caso viene discusso in relazione ad altri casi di SM in cui la malattia iniziava con episodi psichici acuti remittenti. Dall’esame della letteratura, tuttavia, non venivano riscontrati casi caratterizzati da episodi complessi, simili a quello descritto.

     

Neuroepithelial cyst of the cerebellopontine angle: A case report with a review of the literature

A 44-year-old woman had occasional headaches and dysfunction of the facial and trigeminal nerves on the left side as well as ataxia. These clinical manifestations disappeared after removal from the left cerebellopontine angle of a 3 × 4.5 × 5-cm prealbumin-positive cyst of the choroid plexus epithelium, a type of neuroepithelial cyst. A review of 57 reported cases of neuroepithelial cysts in the posterior cranial fossa disclosed 32 symptomatic cysts (56%) and 25 symptomless cysts (44%). The recorded age of 35 patients ranged from 5.5 months to 65 years with the average age of 30 years for both genders; 14% of patients were less than 1-year-old. The ratio of males and females was 1:1. The cysts were located at the following sites: fourth ventricle (51%); intraneural substance as in cerebellar vermis, pons and mesencephalon (7%), and posterior cranial fossa proper (42%) especially in the cerebellopontine angle (18%). The pathogenesis of these cysts is proposed to be related to developmental anomaly of the neuroepithelium which also includes the ectopic neuroepithelial elements. Surgical extirpation of the cyst is the treatment of choice. Total resection should be attempted if it is feasible depending on where the cyst is situated. Fenestrating the cyst wall is also a useful surgical procedure in order to allow communication between the cyst contents and the pathway of the cerebrospinal fluid for abolishing the increased intracranial pressure.     

Isolated primary craniosynostosis in an adult: Imaging findings of a case

Craniosynostosis means premature closure of calvarial sutures. It may be primary or secondary. The patient presents with unexplained neuropsychological impairment and radiological imaging clinches the diagnosis. We present a case of 31-year-old female having primary isolated craniosynostosis who survived into adulthood without any surgical intervention. The imaging findings of such a case are rarely described in the literature.     

Paradoxical migrating cyst: An unusual presentation of intraventricular neurocysticercosis with a coincidental pituitary adenoma

Intraventricular neurocysticercosis is an uncommon entity which may become symptomatic due to cerebrospinal fluid flow obstruction. Migration of intraventricular cysts through the ventricular spaces is a rare occurrence. This phenomenon is poorly understood but may be due to pressure changes within the ventricular cavities. We present a patient with intraventricular neurocysticercosis with paradoxical transaqueductal migration of the cyst from the cerebral aqueduct to the fourth ventricle shortly after ventricular drain placement for acute hydrocephalus. The patient also presented with a coincidental sellar and suprasellar mass, later pathologically proven to be a pituitary adenoma. The migration of this cyst resulted in spontaneous relief of obstruction at the cerebral aqueduct, thus restoring normal cerebrospinal fluid pathways and avoiding permanent shunting. We discuss the possible mechanisms and implications of cyst migration, and the diagnostic challenges of concomitant findings of a pituitary mass and neurocysticercosis. Although the presence of a sellar and suprasellar mass in a patient with known neurocysticercosis should raise clinical suspicion for the possibility of sellar neurocysticercosis, pituitary macroadenoma is a more common entity and a more likely etiology for a sellar lesion.     

An intraventricular clear cell meningioma revealed by an inflammatory syndrome in a male adult: a case report

Intraventricular meningiomas are infrequent intracranial tumors. Clinical symptoms are mainly due to an increased intracranial pressure or a direct pressure on the surrounding brain structures. Inflammatory syndrome was described in some patients with chordoid meningiomas. Here we report a case of right intraventricular clear cell meningioma in a 50-year-old man who presented with fever, headache, and inflammatory syndrome. Clinical and biological normalization was rapidly obtained after tumor removal. Immunohistochemical examination showed tumor cells and lymphocytes positivity for the pyrogenic cytokine interleukin-6, with a same intensity. To our knowledge, this is the first case described in the literature concerning an adult man with an intraventricular clear cell meningioma associated with a systemic inflammatory syndrome.     

An autopsied case of the Crow-Fukase syndrome: a neuropathological study with emphasis on spinal roots

Summary An autopsied case of the Crow-Fukase syndrome is reported. Neuropathological findings were as follows: (1) in the sural nerve, there was marked decrease of large and small myelinated fibers. Myelinated fibers showing axonal degeneration and segmental demyelination and remyelination were moderately increased. (2) In the lumbar spinal roots, myelinated fibers showing segmental demyelination and remyelination were frequently observed. The density of myelinated fibers of the ventral root was less at the dural site than the spinal site, while that of the dorsal roots was less at the spinal site than the dural site. (3) In the dorsal root ganglion, there were Nageotte's residual nodules and satellitosis; (4) in the lumbar and thoracic spinal cord, there was pallor of the dorsal column; and (5) nerve cells showing central chromatolysis were frequently observed in the spinal anterior horn cells. Segmental demyelination and remyelination in the spinal roots and loss of myelinated fibers with axonal degeneration in the sural nerve are fibers with axonal degeneration in the sural nerve are main neuropathological features of this syndrome.     

Seizures and EEG findings in an adult patient with DiGeorge syndrome: A case report and review of the literature

This is the first case report to describe the EEG findings in a patient with DiGeorge syndrome who survived into adulthood. The patient developed generalized tonic–clonic seizures when she was 9 years old and these were associated with hypocalcemia. Despite treatment with calcium, seizures persisted and the patient required antiepileptic medications. She was eventually controlled with oxcarbazepine. An MRI of the head was normal. An EEG showed independent spike and wave discharges emanating from the left temporal and right frontal region. The presence of focal findings on EEG, the lack of complete response to calcium therapy, and the need for antiepileptic drug therapy indicate that some of these patients may be inherently predisposed to developing epilepsy.     

A case of childhood stiff-person syndrome with striatal lesions: A possible entity distinct from the classical adult form

Parainfectious or autoimmune striatal lesions have been repeatedly described in children. We report a 7-year-old girl with painful muscle spasms, leading to the diagnosis of childhood stiff-person syndrome (SPS). Striatal lesions were demonstrated by diffusion-weighted magnetic resonance imaging (MRI) and single-photon emission computed tomography but not by conventional MRI. Autoantibodies against glutamic acid decarboxylase (GAD) were absent. Steroid pulse therapy and high-dose intravenous immunoglobulin resolved all the symptoms with slight sequelae. Childhood SPS may be characterized by absent anti-GAD antibodies and a transient benign clinical course, and it may have a pathomechanism distinct from that in adult SPS.     

A biphasic tumor consisting of pilocytic astrocytoma with an anaplastic solitary fibrous tumor component in the pineal region: A case report and literature review

Here we report a case of a biphasic tumor consisting of pilocytic astrocytoma with anaplastic solitary fibrous tumor component in the pineal region. The majority of the tumor showed typical histologic features of pilocytic astrocytoma. A minor part of the tumor showed marked proliferation of short spindle cells around vessels. These spindle cells showed CD34 and CD99 immunoreactivity. From a review of the literature, we found that only one similar case has been reported. Contrary to the reported case, our case showed anaplastic features of solitary fibrous tumor histology.     

Spinal glioneuronal tumor with neuropil‐like islands and meningeal dissemination: histopathological and radiological study of a pediatric case

Cerebral and spinal location of glioneuronal tumors have been recently described as a novel type of primary CNS neoplasia. A distinctive rare form of glioneuronal tumors with neuropil‐like islands (GTNI) have been reported to occur in the adult cerebrum, whereas spinal GTNI localization is extremely rare. In the present report we describe a case of a 15‐month‐old child with a spinal GTNI of the cervical region and meningeal dissemination. Histologically the tumor was composed of round, small neurocytic‐like cells arranged around eosinophilic neuropil cores and embedded in a diffuse fibrillar glial component forming prominent “rosetted” neuropil islands displaying strong immunoreactivity for neuronal markers. Cerebral GTNI shows abundant glial components not rarely exhibiting anaplastic features that justify their inclusion within the group of diffuse astrocytomas. In contrast, including our case, spinal GTNI do not show histological evidence of anaplastic features and exhibits a significant neuronal component that may imply considering these lesions in a separate group. Nevertheless, due to their exceptional rarity, the natural history of these lesions is not yet fully understood, but spinal GTNI seems to have an unfavorable clinical course despite their benign histopathological features, which must be taken into account for appropriate treatment and follow‐up of the patient.     

Myelopathy mimicking subacute combined degeneration in a Down syndrome patient with methotrexate treatment for B lymphoblastic leukemia: Report of an autopsy case

We report clinicopathological features of a 23‐year‐old woman with Down syndrome (DS) presenting with subacute myelopathy treated with chemotherapy, including intravenous and intrathecal administration of methotrexate (MTX), and with allogenic bone‐marrow transplantation for B lymphoblastic leukemia. Autopsy revealed severe demyelinating vacuolar myelopathy in the posterior and lateral columns of the spinal cord, associated with macrophage infiltration, marked axonal loss and some swollen axons. Pathological changes of posterior and lateral columns were observed from the medulla oblongata to lumbar cord. Proximal anterior and posterior roots were preserved. Cerebral white matter was relatively well preserved. There were no vascular lesions or meningeal dissemination of leukemia. Longitudinal extension of cord lesions was extensive, unlike typical cases of subacute combined degeneration (SACD), but distribution of lesions and histological findings were similar to that of SACD. DS patients show heightened sensitivity to MTX because of their genetic background. Risk factors for toxic myelopathy of DS are discussed, including delayed clearance of MTX despite normal renal function, alterations in MTX polyglutamation and enhanced folic acid depletion due to gene dosage effects of chromosome 21. Alteration of folate metabolism and/or vitamin B₁₂ levels through intravenous or intrathecal administration of MTX might exist, although vitamin B₁₂ and other essential nutrients were managed using intravenous hyperalimentation. To the best of our knowledge, this is the first report of an autopsy case that shows myelopathy mimicking SACD in a DS patient accompanied by B lymphoblastic leukemia. The case suggests a pathophysiological mechanism of MTX‐related myelopathy in DS patients with B lymphoblastic leukemia mimicking SACD.     

Venous congestive myelopathy of the cervical spinal cord: An autopsy case showing a rapidly progressive clinical course

We report a rapidly progressive myelopathy in a 74‐year‐old Japanese man who was admitted to our hospital with a 4‐month history of progressive gait disturbance and died of pneumonia followed by respiratory failure on the 22nd day of admission. During the course of his illness, magnetic resonance imaging (MRI) revealed intramedullary lesions with edematous swelling from the medulla oblongata to the spinal cord at the level of the fourth vertebra. After administration of contrast medium, the ventral portion of the lesion was mildly and irregularly enhanced and a dilated vessel was recognized along the ventral surface of the upper cervical cord. At autopsy, ischemic changes were observed in the upper‐to‐middle cervical cord segments, with so‐called arterialized veins in the subarachnoid space. No neoplastic lesions were found within or outside the brain and spinal cord. These pathological findings were essentially those of venous congestive myelopathy (VCM) associated with dural arteriovenous fistulae (AVF), formerly known as Foix–Alajouanine syndrome. VCM associated with dural AVF, which is now considered to be treatable in the early stages, is rare found in the cervical spinal cord. The present autopsy case, with MRI findings, provides further information that might be useful for recognition and diagnosis.