(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 39-year-old gentleman presented a single episode of hematuria and right flank pain of one month duration. Ultrasonography (USG) and CT of abdomen revealed a 7x5x5 cm right renal mass suggestive of renal cell carcinoma (RCC). While being investigated, he developed worsening headache and visual blurring. Positron emission tomography (PET) scan, CT (Figs. 1a, 1b) and post contrast MRI revealed a hyper-intense lesion in the right cerebellar hemisphere pushing the vermis to left and anteriorly (Figs. 1c, 1d). In view of raised intracranial pressure, he underwent gross total excision of the cerebellar lesion prior to nephrectomy.

(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 39-year-old otherwise healthy woman was referred to our center in June 2002 due to progressive deterioration of vision in her left eye and visual field restriction of about two months' duration. Ever since she gave birth in 2000, she had been amenorrheic but still lactating. Neurological examination revealed bitemporal hemianopsia. Her endocrine function was normal.

(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 39-year-old woman who had a left kidney tumor incidentally discovered during CT scan as part of a diagnostic workup for colonic diverticulosis. She had no personal or family history of significance, including no personal or family history of tuberous sclerosis complex (TSC), lymphangioleiomyomatosis, renal cyst, renal malignancy, or estrogen hormonal therapy. The CT scan demonstrated a 2.5-cm complex cystic mass in the upper pole of the left kidney with a 1-cm enhancing nodule in its wall, radiologically worrisome for cystic renal cell carcinoma. In view of this concern of malignancy, the patient elected to undergo laparoscopic left partial nephrectomy for definitive surgical treatment. The entire tumor was surgically resected with an excellent margin of 5-mm of normal parenchyma surrounding the entire cyst wall, and the tumor was confined to the kidney. She is alive with no evidence of recurrence or metastatic disease, 24 months postoperatively, and subsequent clinical follow-up with interval abdominal imaging studies is planned.

(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 39-year-old white female presented with a 5 x 5 mm erythematous isolated papule on right forearm.

(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 39 year-old-man with no significant past medical history presented with recurrent syncopal episodes, some of which were accompanied by nausea and vomiting. He also complained of recurrent headaches, gait problems and bilateral hand tremor. The physical exam confirmed the bilateral and symmetric intentional tremor and gait difficulties, without any motor or sensory deficits, including his cranial nerve examination. A brain MRI revealed a non-enhancing 2.4 x 1.7 cm mass within the right cerebellum; it was hypointense on T1 and hyperintense on T2 weighted sequences (Fig.1 and 2). Subtle leptomeningeal enhancement in the cortical sulci of both frontal lobes was suspicious for subarachnoid spread. Numerous T2 hyperintense lesions were also seen in the cervical and thoracic spine, the largest measuring 8 by 20 mm; these were similarly worrisome for CSF dissemination (Fig. 3 and 4). Providing further support for this notion, a cerebrospinal fluid specimen revealed scattered atypical small to medium sized cells with hyperchromatic nuclei, highly suspicious for malignant neoplasm. The patient subsequently underwent a subtotal resection of the cerebellar mass. Intra-operatively, the surgeon noted expanded cerebellar cortex with associated leptomeningeal coating or opacification suspicious for tumor involvement.

(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 39-year-old man was admitted with recurrent fever, dizziness and headache of three months' duration. He related appetite loss and weight loss of 10 kg in the last three months. He had been diagnosed with HIV infection nine years before, but had never made use of highly active antiretroviral therapy (HAART). On physical examination, he was afebrile, confused, emaciated and presented oral candidiasis. There were no focal neurologic deficits or signs of meningeal irritation. Laboratory studies revealed a CD4 cell count of 101 cells/mm3, a viral load of 500,000 copies/ml, and serum sodium concentration of 145 mmol/liter. A blood test revealed increased levels of IgG for Toxoplasma gondii, with a negative IgM. A cerebrospinal fluid test revealed mild lymphocytic pleocytosis, elevated protein levels, and hypoglycorrhachia. No bacteria and fungi were identified with Gram, Ziehl-Neelsen, and India ink staining. At day 4, the serum sodium concentration increased to 155 mmol/liter. A computerized tomography of the head showed a slight edema and contrast enhancement in the hypothalamic area (Figure 1). At day 5, the patient complained of intense thirst and presented polyuria, hypotension, and elevated levels of serum urea and creatinine. The serum sodium concentration remained high (164 mmol/liter), even after hypotonic fluid infusion. Urine analysis revealed low osmolality, low sodium concentration, and low density. A diagnosis of probable central diabetes insipidus and acute renal failure due to dehydration was established and treatment with desmopressin by nasal spray was initiated. At day 7, the patient developed pneumonia and his general condition worsened. He was transferred to the Intensive Treatment Unit and maintained under the same antibiotic regime. He died two days later (nine days after admission). A post-mortem brain MRI showed symmetric hyperintensities at the floor of the third ventricle in the hypothalamus on axial T2-weighted images (Figure 2).

(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 39-year-old man presented to a small local hospital in northern Saskatchewan following new-onset seizure activity. A single seizure began focally in the left arm and subsequently became secondarily generalized. He was observed in hospital for two days, during which there were no further seizures. He was released after arrangements had been made for him to follow-up with a neurologist, an appointment which he did not keep. Two months later he presented to our institution after having had three similar seizures in short succession. On examination, he was alert and oriented, but drowsy. There was a mild dysphasia, and a partial right-sided visual field defect. Physical examination was otherwise relatively unremarkable. There was no history of headache, nausea, vomiting, weakness, altered sensation, or fever. There were no significant past medical or surgical histories. The patient occasionally smoked cigarettes, had previously abused alcohol, and had previously been exposed to tuberculosis.

(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 3-month-old boy was referred to our hospital because of slowly progressing weakness, which commenced a month earlier. He was delivered normally from an uneventful pregnancy from nonconsanguineous parents. A neonatal screening test had revealed mildly increased serum carnitine, which was normal in a repeated test. He showed generalized hypotonia with an absence of deep tendon reflexes and a lagged head on neurological examination. During the admission, respiratory muscle weakness progressed and he became dependent on mechanical ventilation with tracheal fenestration. Laboratory tests were unremarkable except for increased aspartate aminotransferase (154 IU/L), alanine aminotransferase (68 IU/L), and creatinine kinase (478 U/L) levels. Multiplex ligation-dependent probe amplifications for SMN1/SMN2, the causative gene for spinal muscular atrophy (SMA) type I, revealed no deletion or duplication. He had additional tests, including metabolic screening, brain MRI, and muscle biopsy. Brain MRI was unremarkable for his age, whereas metabolic screening revealed elevated glutaric acid and ethylmalonic acid in his urine, and elevated plasma C14, C14:1, and C16:1 carnitines.

(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.)

This 3-month-old girl was referred to the Neurology Clinic for hypotonia. The child was born at 36 weeks to a 22-year-old G1P0 mother with an uncomplicated pregnancy. The neonatal period was uneventful, however, in the first few months, the pediatrician noted that the child seemed hypotonic.

(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 3-year-old boy was referred for pre-surgical evaluation due to drug-resistant complex partial seizures. The patient was born to unrelated healthy parents and had developed normally. There was no family history of any central nervous system (CNS) disease. His seizures started at the age of 4 months and were characterized by daily, brief (30-60 seconds) episodes of staring, gestural automatisms, and tachycardia, followed by somnolence or headache. From age 14 months the boy started suffering also from frequent left focal motor seizures often resulting in secondarily generalization. At our observation, seizures still occurred daily despite treatment with several antiepileptic drugs. In addition, his parents had also noted initial worsening of cognitive function. Dermatologic evaluation revealed a large congenital nevus on the scalp (Fig 1) and two small black pigmented nevi on gluteus and abdomen. Electroencephalographic recordings showed frequent slow and sharp waves over the right temporal region (Figs 2 and 3). Brain MRI showed a focal lesion in the right uncus. The lesion was hyperintense on T1-weighted (Figs 4 and 5) and hypointense on T2-weighted images (Fig 6) with no gadolinium enhancement. No mass effect or surrounding edema was evident. A right anterior temporal lobectomy and hippocampectomy was performed (Figs 7, 8 and 9). Intraoperative electrocorticography before resection revealed active spikes around the lesion. The postoperative course was uneventful. After surgery, the boy remained seizure-free at the 15-months follow-up.

(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 3-year-old girl with a history of mild motor delay, presented with a change in mental status, gait difficulty, nausea and vomiting. The patient was in her usual state of health until 9 months prior to presentation, when she was found to have abnormal adduction of the left eye. Over the next several months, she developed gait difficulties and behavioral changes. On the day of admission, she developed confusion, severe gait difficulties, nausea and vomiting. On physical examination, she had right homonymous hemianopsia, right hemiparesis, and increased deep tendon reflexes of her right Achilles tendon. She subsequently became unresponsive. She was intubated and given mannitol and steroids. An external ventricular drain was placed. Neuroimaging showed a minimally heterogeneous enhancing tumor measuring 8 x 8 x 9 cm involving the left parietal region and, partly filling the left lateral ventricle, with accompanying hydrocephalus, midline shift and uncal herniation (Figures 1, 2, 3). Gross total resection of the tumor was confirmed by post-operative imaging. Staging evaluation revealed no metastasis. The patient was discharged one week later.

(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 3 year old male who initially presented with seizures at age 18 months and was diagnosed with a Chiari malformation; this was successfully surgically repaired. During the pre-operative assessment, however, he was found to have isolated hepatomegaly. Since that time, his parents have noted increasing fatigue, leg pain, intermittent abdominal pain, and a possible two pound weight loss. Repeated blood sugar measurements revealed glucose levels in the 30s and 40s in the morning and early afternoon. He has no history of jaundice, or pruritus. There is no family history of similar symptoms (see Figure 1).

(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 40 year old female presented to the neurosurgery department with a history of new onset, severe, pressure-like headaches. MRI (Fig. 1) revealed multiple mass lesions in the spinal cord, at C4-6 and T3 with infiltration of the neuroforamina. An epidural component was associated with spinal cord compression. In addition, there were lesions in the hip and shoulder, liver and small intestine, as well as right parietal and frontal, dural- based lesions, 3x3x4 and 1.5x1x1cm. Subsequent surgical removal of the dural tumors was complete. The postoperative course was uneventful and the patient described relief from the headaches. The intracranial tumors recurred at 1 and 2 years after the initial surgery.

(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 40-year-old right-handed female first noticed 6 months ago headache and dizziness. One month later, she complained of repeated vomiting and frequent headache. She was hospitalized at another medical facility. MRI examinations revealed multiple contrast enhanced lesions over the surface of cerebral hemispheres (Figure 1), cerebellum, brainstem (Figure 2) and cervical spinal cord (Figure 3). Laboratory examinations showed no abnormality in the white blood cell (WBC) count, C-reactive protein (CRP), or the tumor markers such as CEA, CA19-9 and SCC. Lumbar punctures revealed an increased opening pressure of 280 mm H2O. Analysis of the cerebrospinal fluid (CSF) disclosed mildly elevated cell counts (22 cells/mm3; 86% mononuclear, 14% polymorphonuclear), a severely decreased concentration of glucose (4 mg/dl) and elevated level of protein (446 mg/dl). A polymerase chain reaction (PCR) test for tuberculosis DNA in the CSF was reported to be normal, and negative result of tuberculosis cultures. No clinical improvement was observed despite a trial of steroid therapy. Because these studies did not reveal a diagnosis and she became tetraparetic, an open biopsy was performed through a left temporal craniotomy 4 months after the onset of initial symptom. At surgery, milky opacification of the leptomeninges was observed at the convexity of the brain and they were biopsied with adjacent brain tissue. Five months after the onset of the disease, she was transferred to our hospital. At this time, she showed tetraparesis (Manual Mascle Test (MMT): Upper extremity=3/5, Lower extremity=1/5), dysphagia, right hearing disturbance, left oculomotor paralysis, sensory disorders of the bilateral lower extremities, and bladder and rectal disturbances. The Karnofsky Performance Scale (KPS) was 40.

(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 40-year-old woman presented to the Neurosurgery Department with sudden onset of headache and altered sensorium for 2 days. On evaluation in the emergency department, she was drowsy, disoriented with Glasgow coma scale of 13/15 and right hemiparesis grade 3/5, with no cranial nerve deficits. She was earlier diagnosed to have diffuse osteomalacia three years back and was on treatment for the same. Her serum phosphate levels (1.5mg/dl) were low, calcium levels (9.2mg/dl) were normal and vitamin D levels (40nmol/l) were reduced. Cause for the same could not be ascertained despite several investigations.

(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 40-year-old male with a one year clinical history of vertigo and intermittent headaches was admitted for evaluation at a tertiary university hospital. Magnetic Resonance Image (MRI) showed a heterogenously enhancing mass with cystic and calcific components in the anterior horn of the left lateral ventricle measuring 2.5 x 2.2 x 1.6 cm (Fig. 1). The patient underwent partial resection of the intraventricular tumor through a left frontal craniotomy with transfrontal approach to the left ventricle. The patient was discharged four days later and has done well since that time with no neurological deficits.

(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 40-year-old female presented with blurred vision and diplopia, followed by slowly progressive left-sided motor and sensory disturbances. She also suffered from memory loss and was had mild spatial and temporal disorientation. A T2 weighted MRI showed a large area of high signal intensity in the periventricular white matter of the right more than the left occipital region and the corpus callosum, without enhancement on T1 weighted images after gadolinium administration and without mass effect. A stereotactic biopsy of the intracerebral lesion showed blast-like neoplastic cells within a mononuclear infiltrate. No diagnosis could be made based on morphology and immunohistochemistry using a large series of markers. However, based on positive OCT3/4 nuclear staining, the tumor was diagnosed as a germinoma (seminoma of the brain). The patient was treated accordingly and her condition improved, although focal deficits remained.

(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 40-year-old female presented with new-onset seizures 4 months ago and with a menstrual disorder for the past 2 months. She was admitted to our hospital for evaluation. Physical examination was non-specific. MRI of the brain revealed a well-delineated homogeneously contrast-enhancing mass in the posterior lobe of the hypophysis. No abnormal signal was found in brain parenchyma. Serum levels for LH, FSH and prolactin were within normal limits as were progesterone and estrogen. MRI demonstrated a sellar mass measuring about 3.6×3.5 mm in size. The lesion was generally isointense to gray matter on T1-weighted images (Figure 1) and isointense to slightly hyperintense on T2-weighted images (Figure 2). The patient was diagnosed with a presumed pituitary microadenoma and epilepsy, and an endoscopic transphenoidal resection 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.)

GROSS DESCRIPTION

(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 41 -year-old male patient administered to hospital with the complaint of medically intractable complex partial seizures since 3 years of age. The frequency of focal seizures despite multi-medication treatment was 4-5 /month. Brain MR imaging revealed a non-enhancing cortical lesion with subcortical involvement in the left parietal lobe. Imaging characteristics of the lesion on T1-W was peculiar in that both hypo- and isointensity was present with accompanying peripheral hyperintensity (Fig. 1). The lesion was hyperintense with microcysts on FLAIR (Fig. 2). Following lobectomy the patient remained seizure free and showed no evidence of tumor recurrence in the 48-months follow-up period.