(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 woman in her early 50's presented to the emergency department with severe right lower quadrant pain and vomiting. She reported a slight decrease in appetite and intermittent abdominal pain over the past month. She denied any changes in bowel or bladder habits or weight. She also denied shortness of breath, leg swelling, or early satiety. She reported postmenopausal spotting over the past week. On examination she was found to have rebound tenderness and guarding.

(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 woman in her late 60's presented in the 1980's with a 6 month history of lower limb numbness and difficulty going downstairs. In the lower limbs there was 4/5 weakness from the hips distally, absent deep tendon reflexes, diminished sensation distally to light touch and pinprick, the neurological examination otherwise being unremarkable. Multiple investigations, including myelography, were within normal limits. By 9 months post-onset she had stocking distribution burning dysesthesias, diminished vibration sensation throughout her lower limbs, wide-based gait and electrophysiological evidence of axonal neuropathy in the right leg. By 14 months she was wheelchair dependent, with perineal numbness, urinary incontinence and repetitive flexor withdrawal movements of her lower limbs. A cauda equina / lower cord lesion was suspected, but CT myelography was unremarkable. Over several days there was further deterioration, with power 0-1/5 distally to 2-3/5 proximally, absent position and vibration sensation and reduced pinprick to mid lumbar level. By 20 months there was extensive denervation electrophysiologically in L5-S2 nerve root distributions. Several years later the patient died of pneumonia and a consented autopsy 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.)

Nine year-old male who presented with a non-painful, firm, round, parotid lump for about one week. Neck CT with contrast showed a well circumscribed, 1.5 cm enhancing mass within the anterior portion of the superficial lobe of the left parotid gland (Figure 1, Neck CT with contrast showing 1.5cm mass within the parotid gland).

(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 young adult male who presented at the outside hospital with much more fatigue than usual for the last couple of months since early last fall. His symptoms dramatically worsened a couple of weeks prior to presentation, consisting of early satiety, pressure and left back pain. He had lost about 10 pounds over 1.5 weeks, but the rest of his review of system was unremarkable. He was transferred here given his leukocytosis of 50 x 109/L and a bone marrow biopsy showing marked myeloid hyperplasia consistent with Myeloproliferative Neoplasm (MPN), best classified as BCR-ABL negative Chronic Myelomonocytic Leukemia (CMML) per outside report.

(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 young boy, less than 2 years of age, with end-stage liver disease secondary to glycogen storage disease, type IV, treated with liver transplantation. The liver segment allograft came from a living closely-related donor.

(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 young child with a history of short stature and a hypoplastic thumb that presents with cough and worsening fatigue over the last three weeks. He was born to a non-consanguineous couple via spontaneous vaginal delivery to a 42-yearl old mother. He was seen in clinic one week prior and diagnosed with acute otitis media and prescribed amoxicillin which resolved his ear pain but failed to resolve the cough. A panel including a CBC, electrolytes, BUN, creatinine, T4 and TSH, glucose, HbA1c and urine dipstick were sent. His CBC is as follows, with the rest of the panel within normal limits:

(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 Caucasian male in his twenties presented with a left abdominal pain and discomfort since a few weeks. There was no history of night sweats, fevers, or weight loss. CT scan of the abdomen revealed a 4.5 x 1.7 x 2.3 cm lobulated, non-vascular, soft tissue density on the left side of the aorta, below the level of the renal vessels. Initial radiologically guided fine needle aspiration (FNA) and biopsy were too small and non- representative. All serological markers for a germ cell neoplasm were negative and a scrotal ultrasound performed was unremarkable.

(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 young previously healthy child with no significant medical history presented to their primary care physician with a history of intermittent headaches and fevers for the past few months. The headaches had no predictable pattern and no positional triggers or intensity change. The patient was initially treated with oral antibiotics, which failed to improve their symptoms. They then developed gait disturbances and visual changes, prompting imaging studies (Figures 1 and 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 female in her 20s presented to the ED for worsening right upper quadrant abdominal pain, nausea/vomiting, malaise, fever/chills, and jaundice. She has no significant past medical history, however, was recently seen for similar symptoms a few days prior. At that time, she had bloodwork done that was diagnostic for acute infectious mononucleosis, including a positive monospot test and IgM Epstein-Barr virus (EBV) antibodies (with negative IgG EBV antibodies), and mildly elevated AST, ALT, and bilirubin.

(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 patient was born without any significant abnormalities. He was admitted to the hospital because of failure to thrive and myopathy of unknown etiology. He also had severe gastroesophageal reflux, tracheobronchomalacia, and respiratory insufficiency. During the hospital stay, patient underwent tracheostomy and required mechanical ventilation.

(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 toddler presents with increasing proptosis, buphthalmos and decreased visual acuity in the left eye. The patient also has severe left-sided periorbital pain. Shortly after birth, she was diagnosed with congenital glaucoma of the left eye. Her condition has been refractory to multiple medications. Two surgical procedures, a trabeculotomy and a trabeculectomy, have also failed to control her elevated intraocular pressure. The patient has café au lait spots, axillary and inguinal freckling, sphenoid wing dysplasia and bilateral Lisch nodules. There is no family history of neurofibromatosis. How does this information influence your clinical differential diagnosis? Due to her worsening vision, pain and cosmetic deformity, magnetic resonance imaging (MRI) of the left orbit is 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.)

This 51 year-old white female had been in good heath except for morbid obesity when she was hospitalized with severe abdominal pain, severe constipation and thirst. Computerized tomography of the abdomen showed extensive peritoneal carcinomatosis, bilateral adnexal masses and right pleural effusion. Before biopsy could be performed, the patient developed acute dyspnea and expired.

(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 patient is a five-day-old infant, born to a 27-year-old gravida 2 para 2 mother. Her prenatal course was uncomplicated with proper prenatal care and a normal fetal ultrasound. The patient was delivered via spontaneous vaginal delivery at 40 6/7 weeks.

(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 boy aged 7 years was investigated for dizziness, diplopia and occasional visual hallucinations over a period of three months. Examination revealed mild nystagmus and left-sided cerebellar signs, including ataxia and dysdiadochokinesis. A mass arising from the roof of the fourth ventricle was demonstrated on MRI (Fig. 1). No other radiologic abnormalities were present within the neuraxis. Serum AFP was 1KU/L, and HCG was < 1 IU/L. The tumor was removed via a posterior fossa craniotomy. The child received craniospinal radiotherapy and cisplatin-based chemotherapy, and remains well 44 months post-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 22 year old obese female with a BMI of 34.3 kg/m2 and no significant past medical presented to the ED with left-sided facial droop. She was diagnosed by Bell's palsy and started on oral corticosteroid therapy. A routine laboratory workup, including Lyme disease testing was negative. Over the next two to three weeks, the patient developed left-sided ptosis, left lateral and upper gaze paralysis, progressive left-sided visual loss and partial right-sided visual obscuration. She also complained of pulsating "tinnitus" and bi-frontal morning headaches. She was referred by her primary care physician to the ED, where she underwent an extensive workup.

(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.)

2001-2004

(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 male patient was diagnosed with long segment Hirschsprung disease (HSCR) at birth at an outside hospital. By report, the entire colon and the small bowel up to 6 cm above the ligament of Treitz were aganglionic. The child had been on total parenteral nutrition (TPN) and over time developed TPN-associated liver cirrhosis.

(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 complaining of headache, photophobia and altered mental status arrived to the ER from another hospital. His symptoms began a few months earlier with diarrhea and vomiting, daily fever up to 39ºC, and weight loss. At that time, the neurological examination showed a Glasgow Coma Scale (GCS) score of 8 points and nuchal rigidity. A brain CT scan was normal, and ceftriaxone 2gr per day, vancomycin 2 gr every 12 hours, ampicillin 2gr every 4 hours, clarithromycin 500mg every 12 hours, and acyclovir 800 mg every 5 hours were started. Because there was no improvement, two days later he was transferred to our hospital. At entry the heart rate was 53 beats per minute, breathing rate was 18 per minute with Cheyne-Stokes respiration, blood pressure was 100/60 mmHg, and temperature was 38ºC. The GCS score was of 6 points: 2 points for the ocular response, 1 point for the verbal response and 3 points for the motor the response. His head and gaze were persistently deviated to the right. He had bilateral papilledema, and his pupils were asymmetric, with the right pupil size of 2mm and the left of 5mm. Strength was abated, but when pain was elicited he acquired a posture of decerebration. The Hoffman and Babinski signs were produced on the right side. He had involuntary myoclonic jerks in the upper and lower extremities that lasted more than 5 minutes. Nuchal rigidity was present. He was intubated and put on mechanical ventilation. Dexamethasone was administrated for cerebral edema, levetiracetam and propofol for persistent epileptic seizures. Amphotericin B was added and the antibiotics were continued. Two days later mannitol, meropenem, rifampicin, pyrazinamide and etambutol were included, however, the patient continued to be hypothermic and had severe slow heart rate and hypotension. He died 9 days 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 was a diabetic male in his 50s with progressive loss of sensitivity on the left side of the body and horizontal diplopia. Symptoms appeared after a right basal pneumonia one month before admission. The patient did not have a risk factor of HIV infection. The routine blood analysis was normal. A CT scan showed an expansive lesion in the pons (Fig. 1), which was considered as non-surgical. The patient was treated with corticoids. One week later, the patient showed general deterioration. The fifth and sixth right cranial nerves were affected. Ataxia and disorders in swallowing were also present. A second CT scan showed that the pontine mass had become larger. The patient died 7 days after his admission and the autopsy was limited to CNS.

(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.)

CASE 1: