Mixed germ cell tumor of ovary and clitoromegaly in Swyer's syndrome: a case report.

Swyer syndrome is a type of pure gonadal dysgenesis correlating with 46 XY karyotype, primary amenorrhea, and female internal and external genitalia. It reveals a testicular differentiation abnormality.A 16-year old girl admitted to our center with primary amenorrhea and abdominal mass. In spite of the absence of normal testis, clitoromegaly was noticed. Peripheral blood karyotype analysis showed 46 XY. Histopathology of the excised gonads determined mixed germ cell tumor in right ovary and streak left gonad without gonadoblastoma in left side. In patients suffering from Swyer syndrome, high risk of gonadal neoplasia dictates early prophylactic gonadal excision to lengthen survival.

Cases non-specific interstitial pneumonia and hypersensitivity pneumonia: A new pathologic diagnosis or overlap syndrome.

ATS/ERS evaluation of ILD's has recently considered NSIP as a single entity and it has historically been considered a provisional diagnosis. As more cases are reviewed, pathologic characteristics may become more precise with less overlap and help in diagnosis of complex cases. Here, we present a series of cases of HP and NSIP recently admitted to Masih Daneshvari Hospital with hope to characterize them better and eventually have less ambiguity about nature of NSIP.

Paraneoplastic isolated myelopathy: clinical course and neuroimaging clues.

OBJECTIVE: To report the clinical phenotype and outcome of isolated paraneoplastic myelopathy. METHODS: We systematically reviewed clinical, serologic, and MRI data for 31 patients (20 female) who presented with an isolated myelopathy and coexisting cancer: carcinoma (lung, 9; breast, 7; kidney, 2; thyroid, 2; ovary/endometrium, 2), melanoma (2), or other cancer (3), or a paraneoplastic autoantibody with strong cancer association (amphiphysin-immunoglobulin G [IgG], 9; collapsin response-mediator protein 5-IgG, 9; Purkinje-cell cytoplasmic autoantibody type 1, 2; antineuronal nuclear autoantibody [ANNA]-1, 1; ANNA-3, 1). RESULTS: Of 31 patients who presented with a progressive myelopathy, symptom onset was subacute in 16 (52%). The median age was 62 years. CSF abnormalities included elevated protein (>45 mg/dL), 22; pleocytosis, 15; excess oligoclonal bands (normal <4), 7. MRI cord abnormalities identified in 20 patients were longitudinally extensive (>3 vertebral segments), 14; symmetric tract or gray matter-specific signal abnormality, 15 (enhancing in 13). Myelopathy preceded cancer diagnosis in 18 patients (median interval 12 months; range 2-44). After myelopathy onset, 26 patients underwent oncologic treatment, immunosuppressive treatment (median delay to commencing immunotherapy 9.5 months [range 1-54]), or both; only 8 improved (31%). At last neurologic evaluation (median interval after onset 17 months; range 1-165 months), 16 patients (52%) were wheelchair-dependent (median time from onset to wheelchair 9 months [range 1-21]). Ten patients died after a median of 38 months from symptom onset (range 7-152). CONCLUSION: Symmetric, longitudinally extensive tract or gray matter-specific changes on spinal MRI should raise suspicion for a paraneoplastic myelopathy. Resulting disability is often severe. Only a minority of patients improve with treatment.

Frontotemporal brain sagging syndrome: an SIH-like presentation mimicking FTD.

BACKGROUND: Behavioral variant frontotemporal dementia (bvFTD) is a relatively well-defined clinical syndrome. It is associated with frontal and temporal lobe structural/metabolic changes and pathologic findings of a neurodegenerative disease. We have been evaluating patients with clinical and imaging features partially consistent with bvFTD but with evidence also suggestive of brain sagging, which we refer to as frontotemporal brain sagging syndrome (FBSS). METHODS: Retrospective medical chart review to identify all patients seen at our institution between 1996 and 2010, who had a clinical diagnosis of FTD and imaging evidence of brain sag. RESULTS: Eight patients, 7 male and 1 female, were diagnosed with FBSS. The median age at symptom onset was 53 years. All patients had insidious onset and slow progression of behavioral and cognitive dysfunction accompanied by daytime somnolence and headache. Of the 5 patients with functional imaging, all showed evidence of hypometabolism of the frontotemporal regions. On brain MRI, all patients had evidence of brain sagging with distortion of the brainstem; 3 patients had diffuse pachymeningeal enhancement. CSF opening pressure was varied and CSF protein was mildly elevated. A definite site of CSF leak was not identified by myelogram or cisternography, except in one patient with a site highly suggestive of leak who subsequently underwent surgery confirming a CSF leak. In 2 patients with a neuropathologic examination, there was no evidence of a neurodegenerative disease. CONCLUSIONS: This case series demonstrates that FBSS may mimic typical bvFTD but should be recognized as an unusual presentation that is potentially treatable.

Study of depressed mood and quality of life in asthma patients in Tehran using the 28-item general health questionnaire.

The prevalence of depression among the general population has been estimated as up to 50% and even higher among asthmatics. The aim of this cross-sectional study was to evaluate the prevalence of depressed mood among asthma patients (n = 280) attending a pulmonary clinic in Tehran and compare it with measures of severity of asthma and of health and well-being. The prevalence of depression symptoms on the 28-item general health questionnaire (GHQ-28) was 65.4%. Patients' individual scores on the GHQ-28 were significantly correlated with the number of asthma medications used, frequency of visits to the pulmonary clinic and frequency of hospitalizations for asthma, but not with FEV1. A significant correlation was found between patients' total scores on the GHQ-28 and total and subscale scores on the Saint George respiratory questionnaire. The GHQ-28 may be useful for screening for asthma patients who need more attention and therapeutic intervention for psychiatric disorders.

Paradoxical postural headaches in cerebrospinal fluid leaks.

Two patients with cerebrospinal fluid (CSF) leak, one at the level of fourth thoracic spine and another with undetermined level of leak, presented with paradoxical postural headaches in that the headaches were present when in a horizontal position and resolved if the patients were upright. One patient improved spontaneously and the other responded to a targeted epidural blood patch. Paradoxical postural headache is yet another headache type that can be associated with CSF leak and CSF volume depletion. Its mechanism is uncertain, but it could be related to congestion and dilatation of cerebral venous sinuses and large veins.

Spontaneous CSF leaks mimicking benign exertional headaches.

Spontaneous CSF leaks are increasingly recognized, and a broader clinical and imaging spectrum of the disorder is emerging. The headaches of CSF leaks are typically orthostatic, but sometimes especially with chronicity the orthostatic features are blurred into lingering chronic daily headaches. Additional types of headache are also increasingly recognized. Two patients with spontaneous CSF leaks presented with intermittent transient severe headaches provoked by Valsalva-type manoeuvres. Orthostatic features were absent and the patients were asymptomatic if they avoided the provoking manoeuvres. One patient had been treated for 6 years for benign exertional headaches and had failed many medical treatments, including courses of indomethacin. He was found to have a leak from cribriform plate. The second patient had been symptomatic for several months, had diffuse pachymeningeal gadolinium enhancement on head magnetic resonance imaging, spinal meningeal diverticula, and CSF leak at the thoracic spine level. Headaches that mimic benign exertional headaches are yet another mode of the still broadening clinical presentation of spontaneous CSF leaks.

The efficacy of epidural blood patch in spontaneous CSF leaks.

Of 25 consecutive patients with spontaneous CSF leaks treated with epidural blood patch (EBP), nine patients (36%) responded well to the first EBP. Of 15 patients who received a second EBP, five became asymptomatic (33%). Of eight patients who received three or more EBP (mean 4), four patients (50%) responded well.

The Monro-Kellie hypothesis: applications in CSF volume depletion.

More than two centuries ago, Alexander Monro applied some of the principles of physics to the intracranial contents and for the first time hypothesized that the blood circulating in the cranium was of constant volume at all times. This hypothesis was supported by experiments by Kellie. In its original form, the hypothesis had shortcomings that prompted modification by others. What finally came to be known as the Monro-Kellie doctrine, or hypothesis, is that the sum of volumes of brain, CSF, and intracranial blood is constant. An increase in one should cause a decrease in one or both of the remaining two. This hypothesis has substantial theoretical implications in increased intracranial pressure and in decreased CSF volume. Many of the MRI abnormalities seen in intracranial hypotension or CSF volume depletion can be explained by the Monro-Kellie hypothesis. These abnormalities include meningeal enhancement, subdural fluid collections, engorgement of cerebral venous sinuses, prominence of the spinal epidural venous plexus, and enlargement of the pituitary gland.

Spontaneous intracranial hypotension.

Spontaneous intracranial hypotension (SIH) is typically manifested by orthostatic headaches that may be associated with one or more of several other symptoms, including pain or stiffness of the neck, nausea, emesis, horizontal diplopia, dizziness, change in hearing, visual blurring or visual field cuts, photophobia, interscapular pain, and occasionally face numbness or weakness or radicular upper-limb symptoms. Cerebrospinal fluid (CSF) pressures, by definition, are quite low. SIH almost invariably results from a spontaneous CSF leak. Only very infrequently is this leak at the skull base (cribriform plate). In the overwhelming majority of patients, the leak is at the level of the spine, particularly the thoracic spine and cervicothoracic junction. Sometimes, documented leaks and typical clinical and imaging findings of SIH are associated with CSF pressures that are consistently within limits of normal. Magnetic resonance imaging of the head typically shows diffuse pachymeningeal gadolinium enhancement, often with imaging evidence of sinking of the brain, and less frequently with subdural fluid collections, engorged cerebral venous sinuses, enlarged pituitary gland, or decreased size of the ventricles. Radioisotope cisternography typically shows absence of activity over the cerebral convexities, even at 24 or 48 hours, and early appearance of activity in the kidneys and urinary bladder, and may sometimes reveal the level of the leak. Although various treatment modalities have been implemented, epidural blood patch is probably the treatment of choice in patients who have failed an initial trial of conservative management. When adequate trials of epidural blood patches fail, surgery can offer encouraging results in selected cases in which the site of the leak has been identified. Some of the spontaneous CSF leaks are related to weakness of the meningeal sac, likely in connection with a connective tissue abnormality.

Spontaneous intracranial hypotension.

Spontaneous intracranial hypotension (SIH) is typically manifested by orthostatic headaches that may be associated with one or more of several other symptoms, including pain or stiffness of the neck, nausea, emesis, horizontal diplopia, dizziness, change in hearing, visual blurring or visual field cuts, photophobia, interscapular pain, and occasionally face numbness or weakness or radicular upper-limb symptoms. Cerebrospinal fluid (CSF) pressures, by definition, are quite low. SIH almost invariably results from a spontaneous CSF leak. Only very infrequently is this leak at the skull base (cribriform plate). In the overwhelming majority of patients, the leak is at the level of the spine, particularly the thoracic spine and cervicothoracic junction. Sometimes, documented leaks and typical clinical and imaging findings of SIH are associated with CSF pressures that are consistently within limits of normal. Magnetic resonance imaging of the head typically shows diffuse pachymeningeal gadolinium enhancement, often with imaging evidence of sinking of the brain, and less frequently with subdural fluid collections, engorged cerebral venous sinuses, enlarged pituitary gland, or decreased size of the ventricles. Radioisotope cisternography typically shows absence of activity over the cerebral convexities, even at 24 or 48 hours, and early appearance of activity in the kidneys and urinary bladder, and may sometimes reveal the level of the leak. Although various treatment modalities have been implemented, epidural blood patch is probably the treatment of choice in patients who have failed an initial trial of conservative management. When adequate trials of epidural blood patches fail, surgery can offer encouraging results in selected cases in which the site of the leak has been identified. Some of the spontaneous CSF leaks are related to weakness of the meningeal sac, likely in connection with a connective tissue abnormality.

Posture-related headaches and pachymeningeal enhancement in CSF leaks from craniotomy site.

Cerebrospinal fluid (CSF) leak is recognized to cause headaches that typically but not invariably have orthostatic features (present in upright posture, relieved by recumbency). Head magnetic resonance imaging (MRI) typically shows diffuse pachymeningeal enhancement. A 24-year-old woman, after resection of a right temporoparietal glioma, developed CSF leak from the craniotomy site, resulting in subgaleal fluid collection and associated with diffuse pachymeningeal gadolinium enhancement as well as posture-related headaches. The headaches, however, were present in a recumbent position and relieved after several minutes of being in an upright position. It is postulated that CSF leak took place when the patient was recumbent and ceased when she was upright, a position in which there is decrease in intracranial pressure. After cessation of the leak, along with disappearance of subgaleal collection of CSF, both the headaches and the pachymeningeal enhancement resolved.

Absent headache despite CSF volume depletion (intracranial hypotension).

CSF volume depletions, whether from leak or shunt overdrainage, typically cause low CSF opening pressures, orthostatic headaches, and diffuse pachymeningeal gadolinium enhancement on MRI. The authors report three patients-two with overdraining CSF shunts and one with proven CSF leak-with the typical pachymeningeal enhancement but without headaches. In CSF leaks and CSF shunt overdrainage, like MRI abnormalities and CSF alterations, the clinical features also show considerable variability. The independent variable remains the CSF volume depletion.

False pituitary tumor in CSF leaks.

The authors describe five patients with typical clinical and MRI features of CSF leak and large enhancing pituitaries. The source of CSF leak was identified and surgically repaired in three patients. This was followed by disappearance of clinical symptoms and resolution of MRI abnormalities, including the pituitary enlargement. Enhancing enlargement of pituitary is another head MRI abnormality in CSF leaks, likely reflecting a secondary pituitary hyperemia.

Spinal manifestations of vertebral artery dissection.

Among 111 patients with vertebral artery dissection (VAD), two presented with spinal manifestations: one with a C5-C6 radiculopathy and the other with a cervical myelopathy. Of 13 previously reported cases of spinal manifestations of VAD (mean age 37 years), ischemic cervical myelopathy was noted in seven; cervical radiculopathy, often at C5-C6 and primarily motor, in five; and hemorrhagic complications in one, with chest pain being part of the presentation.