(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 36-year-old man presented with a large nasal tumor following a long history of multiple meningiomas. At the age of 13, the patient underwent surgical resection and received a single course of radiation therapy for a left optic meningioma. He did well until age 33, when he was found to have multiple meningiomas in three new locations: falcine (Figure 1a), right petroclival and right anterior foramen magnum. These were surgically resected but no additional radiation was administered. Three years later, the patient presented with nasal symptoms, headaches, and seizures. Imaging studies revealed a large mass with intracranial and nasopharyngeal component measuring 4.1 x 5.4 x 6.8 cm in greatest dimensions and causing right frontal lobe compression (Figures 1b and 1c). A systemic workup, including PET CT, for other malignancies was unremarkable. A two-stage surgical resection was performed. The mass was initially biopsied by transsphenoidal endoscopic approach and then partially resected by bifrontal craniotomy, frontal sinus obliteration, en bloc ethmoidectomy, and nasal cavity resection.

(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 is a patient with chronic normocytic normochromic anemia in the range of 8 to 10 g/dl. Further testing included Iron, TIBC, folate and B12 which were within normal range. Reticulocyte count was increased. Peripheral blood smear showed many target cells, nRBC and polychromasia.

(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 47 year old woman from Honduras presented with severe headache and left eye pain. An initial evaluation by a local ophthalmologist revealed no significant findings. Diagnostic imaging at the time demonstrated a sellar mass lesion. She was commenced on cabergoline, but this was ceased due to nausea, vomiting, and tumor progression. Her headaches persisted and she subsequently developed left eye exophthalmos, ptosis, and ophthalmoplegia. Follow-up CT demonstrated significant growth of the mass and involvement of the left orbital apex and cavernous sinus. She was started on corticosteroids and it was recommended she seek care of this lesion at our center.

(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.)

These 5-month-old female twins were referred to a Genetic Counselor shortly after birth for developmental delay and dysmorphic features.

(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.)

Nine year-old-boy presenting with left testicular swelling noticed 2-3 months prior to physician visit.

(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 10 months old boy was admitted because of spasticity of both legs and a history of developmental arrest. He had problems with coordination of movements and particularly difficulty in holding position of his head. The head circumference was enlarged.

(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 10 month-old girl who was born after a full term pregnancy via cesarean section secondary to failure to progress. The pregnancy was notable for polyhydramnios, well-controlled gestational diabetes, and decreased fetal movements late in the third trimester. At birth the baby was found to have a cardiac murmur and was mildly hypotonic, with difficulty feeding. An echocardiogram at 3 months showed mild asymmetric septal hypertrophy with possible biventricular hypertrophy, which at the time was attributed to gestational diabetes. Laboratory tests at 6 months showed elevated liver enzymes. The patient's development over time was notable for delayed achievements of new motor milestones, as well as the loss of achieved milestones.

(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 10 year old female, active in dance classes. She is referred to rheumatology at UPMC following a week-long bout of malaise accompanied in the last several days by a pruritic lacy rash on her trunks and limbs (Figure 1). An anti-nuclear antibody (ANA) assay obtained by the outside physician at an outside laboratory was positive to a titer of 1:1,280.

(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 10 year old female, who underwent liver transplantation at the age of 2 for Alagille syndrome-related end-stage liver disease. Prior to transplantation, she received 36 mg of thymoglobulin followed by 24 mg post transplant, and tacrolimus 2 mg twice daily. Her immediate post transplant course was complicated by a pulmonary thromboembolism and acute cellular rejection which were treated with corticosteroids and antibiotics. Approximately one year after transplant, the patient presented with flu-like symptoms that included fever, rhinorrhea, body aches and an EBV titer of 30 million copies/ml. She was admitted for ganciclovir and CytoGam administration with EBV surveillance. An abdominal CT scan demonstrated a liver lesion along with cervical and axillary adenopathy. A liver biopsy demonstrated a hepatic Epstein-Barr virus-associated smooth muscle tumor. A lymph node biopsy revealed a CD20 positive infectious mononucleosis-like post transplant lymphoproliferative disorder (PTLD). Immunosuppression was suspended, and she was treated with ganciclovir, CMV-IGIV and rituximab. Despite the reduction in immunosuppression, her liver lesions increased in size. Chemotherapy was felt to be of no additional benefit in treating the CD20 negative liver lesion. The liver lesions were monitored with scans She received 4 doses of rituximab with decrease in size of her lymph node PTLD. At the age of 8 she was no longer receiving immunosuppression and her liver masses remained stable in size by CT scan evaluation. At 10 years of age, she presented to the hospital with abdominal pain. A CBC demonstrated the following:

(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.)

Lab results from an outside hospital showed +3 blood in the urine. BUN and Cr were within the normal limit. Hematology work up revealed normocytic anemia and lymphopenia, and thyroid function tests showed only slightly elevated TSH at 5.9 U/ml.

(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 12-year-old male presented with a 14-month history of progressive weakness of his right arm and leg as well as a deviated mouth. Physical examination revealed a mild right-sided central facial palsy and mild right hemiplegia. MRI axial T1 images showed a mixed and ill-defined signal in left thalamus and cerebral peduncle with mild speckled enhancement (Figure 1a). The anterior horn of the left lateral ventricle and left lateral fissure were enlarged as compared with contralateral side (Figures 1a, 1b). The left cerebral peduncle was significantly smaller than that on the right (Figures 1c, 1d). A stereotactic needle biopsy 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.)

12 year-old boy without significant past medical history presented with substernal chest pain. He was diagnosed to have left lower lobe pneumonia and was receiving oral antibiotics for 2 days prior to this referral. His chest pain subsided after albuterol nebulizer treatment in a local hospital, but he was found to have elevations of cardiac troponin I (cTnI) and creatine kinase (CK)-MB with ST changes on electrocardiogram (ECG), and was referred for further evaluation.

(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.)

Clinical history-1 This 12-year-old boy presented with a one-month history of intracranial raised pressure syndrome, characterized by headache and vomiting, followed by nuchal pain and torticollis. Physical and neurological examinations were normal except for papilledema. No hereditary syndromes were disclosed.

(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 was the product of a normal pregnancy and birth and followed normal developmental milestones apart from some difficulty with fine motor skills. She walked and talked at 1 year of age. At the age of 7 years, she had an episode of generalized convulsive status epilepticus, and was told that she had suffered from a viral encephalitis. She developed recurrent seizures at the age of 8 years. A decline in school performance was noted around this time. At 10 years of age, the seizures became more frequent, and she developed a global developmental regression, with loss of language and cognition. She also developed a movement disorder with chorea and myoclonus.

(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 13-year-old girl presented with polyuria, headache, drowsiness, and worsening vision. She reported that polyuria initially occurred 5 years before the consultation, headache and drowsiness developed 3 months earlier, and vision in both eyes had deteriorated dramatically over the previous 1 month. She was subsequently referred to our clinic for further evaluation and treatment. Coronal contrast magnetic resonance imaging (MRI) of the pituitary in our hospital revealed a giant sellar and suprasellar mass with "hourglass sign", measuring 25 × 42.2 × 23.7 mm. The mass had no cystic areas and was heterogeneously enhanced by gadolinium, suggesting a pituitary adenoma (Figure 1a). She denied nausea, vomiting, lactation, acromegaly, and central obesity. Her first menstrual cycle had not yet occurred, and her growth and development were normal. Neurological examination revealed bilateral pupillary dilation of OD 8 mm and OS 6 mm, with pupillary light reflex depressed in both eyes. Baseline pituitary function evaluation revealed primary hypothyroidism (thyroid-stimulating hormone: 7.17 μIU/ml, free-T4: 0.454 ng/dl), hypocortisolism (cortisol < 0.50 μg/dl), decreased somatotropin (growth hormone: 0.1 ng/ml, insulin-like growth factor: 133ng/ml), decreased estradiol with low gonadotropins (estradiol: 13.32 pg/ml, follicle-stimulating hormone: 0.20 IU/L, luteinizing hormone: < 0.2 IU/L). However, her prolactin, β-human chorionic gonadotropin, and α-fetoprotein levels were normal. Based on these findings, panhypopituitarism secondary to a nonfunctioning pituitary macroadenoma was highly suspected and presumptively treated. The patient underwent right frontal craniotomy using a coronal incision for tumor resection and optic chiasm decompression. Visual acuity recovered soon after 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.)

The patient was a normally developing boy who noted hand tremors at 7.5 years of age, approximately 3 weeks after his last mumps, measles and rubella vaccine. One month later, he exhibited difficulty walking, leg pain and weakness. His gait became stiff legged with the right leg rotated outwards. He was found to have significant action and sustention tremor, bilateral lower leg weakness (tibialis anterior), decreased deep tendon reflexes and pes planus. He also exhibited impaired speech articulation.

(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.)

An 13-year-old female with a past medical history of attention deficit hyperactivity disorder and auditory processing impairment, who presented with refractory seizures. She had mild cognitive delay, necessitating enrollment in special education classes. She began having absence seizures around the age of 8 years. Her seizure disorder subsequently progressed to include generalized tonic-clonic seizures, resulting in an associated decrease in the level of verbal communication. She had no other known medical problems and an unremarkable family history. She presented for mapping of her seizure activity and subsequent lobectomy. Her long-term electroencephalogram (EEG) monitoring showed multiple patient events associated with rocking movements, but no time length correlation with associated behavioral events. There were multiple bursts of 8 to 10 Hz activity followed by 2 to 3 Hz activity and some secondary generalization.

(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 was a 13-year-old girl with a long standing history of frequent headaches and a recent syncopal event. The syncope lasted for about 10 seconds with no seizure like activities. There were no complains of fevers/chills, nausea/vomiting/diarrhea, chest pain, short of breath or any other neurological symptoms. Family history was not significant.

(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 13 year old girl, product of an uncomplicated pregnancy, born at full-term (3620g, 53.3cm '50 percentile). Apgar scores are unknown. Examination at birth was otherwise unremarkable. She has always had short stature. She did not progress on the growth chart. A bone age done in August 2005 (chronological age 10 yo) by her primary care physician yielded 6 years and 10 months.

(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 right-handed 14 year-old boy was admitted for a first unprovoked generalized tonic clonic seizure, which was preceded by ongoing headache and nausea for a few days. His parents also noted a sharp decline in his academic performance in recent months. Physical examination was unremarkable except for the presence of right homonymous superior quadrantanopia. Psychological assessment revealed impairment in his verbal memory and learning. Blood results and EEG were unremarkable. Imaging of the brain by CT showed a left temporal mass with calcifications and hemorrhage (Figure 1), and MRI revealed a large avidly contrast-enhancing left temporal mass measuring 4 x 5 x 4cm with evidence of recent hemorrhage (Figures 2 and 3). There were foci of edema and mass effects causing compression of the left temporal horn with adjacent sulcal effacement (Figure 4). He underwent gross total tumor resection under ultrasound guidance via a left temporal craniotomy.