(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

The patient is a 17-year-old female with a history of neurofibromatosis type 1 (NF1) and Arnold-Chiari type I malformation, who presented with painful enlargement of a subcutaneous left thigh mass. The mass, which had been present for several years, was previously stable at 1.5 cm and assumed to be a neurofibroma. Over several months, the lesion grew to 2.5 cm and became painful. These changes were worrisome for transformation of the assumed neurofibroma to a malignant nerve sheath tumor.

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

The patient is a 17 year-old previously healthy girl who developed Raynaud's phenomenon in late 2006. In early 2007, she developed fatigue and general malaise with reportedly increased ESR and CPK. In February, she had progressing symptoms, with periods of chills followed by sweating thought to be fevers that were never measured. In early March, she had joint pain, specifically in her hands, wrists, knees and ankles, as well as myalgias in her back and lower legs. In late March, she was admitted for appendicitis and had an appendectomy at which time an abdominal CT scan noted interstitial changes at the base of her lungs. In April, she was being followed as an outpatient by Rheumatology and Pulmonary Medicine at an outside hospital. She was found to have a positive rheumatoid factor and diagnosed with rheumatoid arthritis with possible associated pulmonary fibrosis. She was started on NSAIDS. Later that month, she began to have more joint pain and weakness. In early May, she was started on prednisone which was increased to 60 mg bid when she noticed significant improvement. In mid May, she began to have shortness of breath, which progressively worsened.

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

A 17-year-old girl presented with a seizure which started as involuntary movement of left arm and progressed to loss of consciousness. She experienced severe headaches for three weeks prior to hospital admission. There was no previous medical history. On neurologic examination, bilateral papilledema was noted and no other neurologic deficits were detected. MRI revealed a 7x4cm heterogeneous extra-axial mass in right frontoparietal area with no vasogenic edema. The mass contained a septated cystic portion with high signal intensity on T2 and low signal intensity on T1-weighted images. The solid portion had slightly higher signal intensity on both T1 and T2-weighted images. With gadolinium enhancement, the solid portion and the cystic wall showed strong enhancement. Perfusion was elevated in the solid portion (Figures 1, 2 and 3).

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

A 19-year-old male was referred for a blurred vision and eyestrain associated with occipital headache for several weeks. Ophthalmologic examination showed left homonymous hemianopia and papilledema on fundoscopy. The CT scan showed a 7 cm diameter lobulated hyperdense mass with calcifications. On MRI, the lesion was hyperintense on T2 and hypointense on T1 weighted images with moderate gadolinium enhancement. The lesion was well demarcated and laid on tentorium. Diffusion weighted imaging did not exhibit restriction (High apparent diffusion coefficient (ADC)). Surrounding brain parenchyma was normal (Figure 1). The lesion was hypoperfused when compared to normal brain (Figure 2). MRI spectroscopy (Figure 3) showed a high choline to creatine ratio (suggesting high cell membrane turn over) and elevated lipids and NAA. The lesion was totally removed via a right parietal craniotomy. Intraoperatively, the lesion was readily visible at the surface of the brain, firm, with a clear dissection plan. It was inserted on the falx cerebri and the tentorium. Gross examination showed a firm lobulated white lesion (Figure 4). There was no evidence of hemorrhage or necrosis.

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

A 19-year-old male with history of narcolepsy, but otherwise healthy with normal development and cognition, presented with one month of daily headache and a single unprovoked transient confusional episode consistent with a seizure. During the episode, the patient experienced right upper extremity incoordination, orolingual automatisms and aphasia. Physical examination was notable only for macrocephaly. MRI of the brain revealed multiple heterogeneously enhancing dural-based masses and dural nodularity with mild parenchymal volume loss, thinning and remodeling of the calvarium, remodeling of the skull base, and sagging appearance of brainstem (Figures 1a, 1b). There was no lesion in the spinal canal. Cerebrospinal fluid analysis was normal except for elevated protein content. Electroencephalography (EEG) showed left temporal focal slowing with sharp transients. Extensive serologic testing was within normal limits, notable for normal ANA, ANCA, RF, RPR, Quantiferon Gold, FSH, LH, prolactin, TSH, SPEP, antigliadin antibody, and IgG4, as well as negative HIV. CT scans of the chest, abdomen, and pelvis did not identify any visceral lesions and ophthalmologic and dermatologic examinations were essentially normal. A biopsy of the left parietal dural-based nodule was performed, but did not yield a definitive diagnosis. The patient was treated with levetiracetam and corticosteroid therapy and discharged home with planned outpatient follow up. Approximately four weeks later, he presented with recurrence of severe retro-orbital headache and emesis. A second biopsy, this time of a left frontal dural-based nodule was performed.

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

A 19-year-old male presented with an acute episode of headache, nausea and neck stiffness. The patient displayed a GCS of 15 with a mild left-sided hemiparesis. CCT revealed a mass in the right ventricular trigone with hemorrhage into the ventricle (Fig 1). An MRI showed contrast enhancement of the lesion (Fig 2; T2 axial view and Fig 3; T1 contrast-enhanced coronal view).

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

The patient is a 19-year-old female who presented to the emergency department (ED) with a two week history of general malaise, shaking chills, rash, fevers, night sweats and right upper quadrant pain. She had initially been seen two days prior in the ED, and preliminary evaluation demonstrated tender lymphadenopathy, an erythematous maculopapular rash of the malar region of the face, upper and lower extremities, and an elevated white blood cell count of 33,600 plt/L, with 5% "atypical cells" present. Her hemoglobin and hematocrit were within normal limits (14 g/dL and 42.2%), with an MCV of 84.9. At the time she was deemed well enough to follow up as outpatient with dermatology the following morning; by the time of this appointment she had developed shaking chills. This, in conjunction with the findings of the peripheral blood smear, prompted a second evaluation in the ED, with consultation by hematology

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

The patient is a 19-year-old male with a two-week history of febrile illness, respiratory failure, and septic shock. His illness started with low grade fever, intermittent headache, and nausea. Gradually, his symptoms progressed into high fever, prominent weakness, shortness of breath, and respiratory failure.

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

A 19-year-old previously healthy man was admitted in an unconscious state with a conjugate deviation of gaze to the right. Having been intubated and ventilated, he suffered a series of generalized seizures. Cranial MRI showed a slightly enhanced periventricular edema zone in the white matter adjacent to the posterior horn (Fig. 1; A: fluid-attenuated inversion recovery [FLAIR], B: T2-weighed, C: gadolinium enhanced).

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

A 1-day old male was found to have pallor after birth. He was the product of an uneventful pregnancy and normal birth. He had no overt congenital anomalies/stigmata.

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

The patient is a 20 month old girl with an unremarkable past medical history. She presented with a 1 month history of a non-tender mass in her left calf.

An MRI demonstrated a soft tissue mass within the muscles of the left leg located posterior to tibia and fibula (Figure 1; T1 weighted image with contrast).

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

A 20 year old male with persistent cough was evaluated for surgical and anesthesia risk. The patient did not report fever, weight loss or night sweats. He was a smoker but quit 5yrs ago. No history of exposures to asbestos or industrial dusts was elicited.

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

A previously healthy 20-year-old man developed progressive hearing loss for the last 3 years, evolving to tetraparesis with sphincter impairment. There is no history of fever, headache or vision loss. Neurologic examination demonstrated global spastic tetraparesis, more severe in lower limbs, with evident pyramidal signs (tetrahyperreflexia, clonus and bilateral Babinski sign) and severe bilateral hearing loss. Evaluation of sensibility and coordination was not reliable due to motor deficits and hearing loss.

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

A 20 year old woman attended her general practitioner with right upper limb pain and intermittent paraesthesias for a 4 month period. She had no neck pain or systemic symptoms and was a non smoker. There was no family history of note. She was commenced on pregabalin for pain and an MRI of cervical spine was ordered. The MRI revealed a right-sided intradural extramedullary mass extending from C7-T1 that was displacing the spinal cord to the left. She was reviewed by neurosurgery and was now complaining of paraesthesias in the right lower limb also. She had no bowel or bladder symptoms. Her examination revealed reduced sensation in the right upper limb but normal tone, power, coordination and reflexes. Cranial nerves, the left upper limb and bilateral lower limb examination were documented as normal. Imaging revealed that the lesion now extended from C5 to T3 and was causing significant cord compression at C7-T1. An enhancing extradural soft tissue mass centered in and expanding the exit foramina and indenting the thecal sac (arrow) is shown by axial T1 MRI post-contrast (Figure 1). On the T2 Sagittal MRI (Figure 2) the low signal soft tissue mass is demonstrated in the right exit foramina at four spinal levels(small arrows), normal high signal fat is seen in the foramen below (larger arrow). (Figure 2) The patient underwent emergency resection of the lesion. A large rubbery, tan piece of tissue measuring 1.5 x 0.8 x 0.5 cms and further multiple pieces of cream grey tissue measuring 3.5 x 3 x up to 0.3 cm in aggregate were removed.

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

A previously healthy 21-month-old male presented with a 1-month history of vomiting, gait disturbance, and abnormal ocular alignment. He had papilledema, but no convulsions or abnormal consciousness. A CT scan revealed hydrocephalus (Figure 1a) and a cerebellar tumor measuring 4 cm in diameter (Figure 1b). Apparent diffusion coefficient map demonstrated strong restricted diffusion in the tumor (Figure 1c). The tumor was totally resected on the day after admission, and had not spread into his cerebrospinal fluid at surgery; however, the tumor progression was very aggressive. Only two weeks after surgery, and prior to any chemotherapy, the tumor had spread to his spinal cord leptomeninges, causing neoplastic meningitis. Moreover, although he was in remission after a cycle of chemotherapy (cyclophosphamide, cisplatin, vincristine, etoposide, and intrathecal methotrexate), the tumor relapsed quickly during additional chemotherapy. We prescribed an anthracycline-containing regimen and irradiation sequentially; however, the tumor did not regress. He survived only seven months after his diagnosis.

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

A 21 month old female child of non consanguineous parentage was admitted to the neurosurgical unit with rapidly progressing spastic paraparesis of lower limbs, following a febrile episode of 20 days duration. The developmental milestones were normal, with no history of trauma or any significant illness or hospitalization in the past. MRI of the dorsal spine revealed a large T1 - T4 right paravertebral circumscribed mass with intraspinal extension and severe cord compression suggestive of a neurofibroma with dumb-bell shaped intra and extraspinal extension (Fig. 1 and 2). On ultrasound examination there was no evidence of an abdominal mass. The tumor was approached through a right posterolateral thoracotomy. A greenish pink tumor adherent to the parietal pleura and right T2 - T4 intercostal nerves, vagus nerve and extending as small lobules into the tracheo- esophageal groove and carina was excised, leaving a small portion adherent to the vessels. Resecting the posterior ends of second, third and fourth ribs on the right and nibbling the vertebral pedicles from T1 - T4, the intraspinal portion of the lesion was totally resected. Post operatively the child had chylothorax that regressed spontaneously after 4 weeks. Chemotherapy was advised, but the parents refused. On follow up after one year, the child had regained normal power of lower limbs, but had mild spasticity. A repeat MRI after one year revealed no increase in size of the residual lesion and no evidence of metastatic disease anywhere (Fig. 3).

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

A 21-year-old female with a history of elevated blood pressure as a child and right nephrectomy for pyelonephritis. In 2003, she underwent an excision of a bladder mass.

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

A 21-year-old female admitted to the hospital with severe headache. While driving, she suddenly could not feel the steering wheel in her right hand and experienced a feeling of getting lost. The symptoms subsided but followed by headache that gradually evolved into the worst headache in her life. Neurologic exam was normal and MRI imaging disclosed left parietal tumor with a large cystic component and enhancing mural nodule (Figure 1A). Differential diagnosis included ganglion cell tumor, PXA and pilocytic astrocytoma. The patient underwent left craniotomy with a complete resection of the tumor. Intraoperatively, the mass was intra-axial and consisted of a white-yellow firm 3 cm nodule located on a wall of a large cavity filled with an amber-colored fluid. There was no association with leptomeninges.

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

A previously healthy 21-year-old female presented with permanent tinnitus, vertigo and nausea lasting for two months. Physical examination did not reveal any neurological deficits. Her family history was negative. All blood tests, including serum levels of the germ cell tumor markers alpha-fetoprotein (1.1 µg/l) and beta-human chorion gonadotropin (< 2 mIU/ml), were normal. Magnetic resonance imaging (MRI) of the brain demonstrated a small, partially cystic, contrast-enhancing mass in the posterior part of the third ventricle. Fig. 1a shows the tumor (arrow) on a contrast-enhanced T1-weighted sagittal MRI scan. Fig. 1b demonstrates a coronal section through the tumor. The tumor did not result in an obstruction of the cerebrospinal fluid flow. No further intracranial lesions were present. We additionally performed a digital subtraction angiography, which revealed a variant of the vein of Galen but no pathological vascularization of the intraventricular mass. The tumor was resected via an infratentorial supracerebellar approach. The postoperative course was uneventful.

(This case study was added to OER Commons as one of a batch of over 700. It has relevant information which may include medical imagery, lab results, and history where relevant. A link to the final diagnosis can be found at the end of the case study for review. The first paragraph of the case study -- typically, but not always the clinical presentation -- is provided below.)

A 21-year-old female patient, without previous co-morbidities, presented with progressive decrease in visual acuity in the right eye, ipsilateral ptosis, frontal headache and bilateral galactorrhea on expression in the last seven months before the consultation. At that time, in another institution, a serum prolactin level, which was 74.9 ng/mL [normal range (NR): 5 - 25], and a sella turcica magnetic resonance imaging (MRI) were requested. The MRI (Figures 1, 2, 3 and 4) revealed an expansive solid lesion, isointense in T1- and T2-weighted sequences with gadolinium enhancement measuring 3.5x3.3x4.2 cm, with its epicenter in the sella turcica. It extends superiorly reaching the optic chiasm, laterally mainly to the right cavernous sinus and inferiorly towards the sellar floor, causing erosion of the sellar floor and the adjacent area of the clivus. She was treated with bromocriptine 2.5 mg/day for two months.